Archive for the ‘Ashkenazi’ Category

Disease-linked genes in 14 Indian groups – Calcutta Telegraph

New Delhi, July 19: Millions of people in each of at least 14 population groups across the Indian subcontinent may possess disease-linked genes, inherited from roots in founding populations and passed down generations through within-community marriages.

A genetic study of 260 distinct South Asian population groups has identified 14 groups, each with census counts of more than one million and each displaying genetic evidence for what scientists call “founder events”, or descent from small founding populations.

Scientists have long known that similar founder events for certain populations such as the Ashkenazi Jews or the Finns have contributed to high rates of so-called recessive disease-linked genes in these populations.

The South Asian study, published yesterday in the research journal Nature Genetics, has now detected a stronger founder-effect in the 14 populations than what had been observed in the Ashkenazi Jews or the Finns.

The 14 groups sampled in the study were Arunthathiyars from Tamil Nadu, Baniyas from Uttar Pradesh, Manipur Brahmins, Nepal Brahmins, Gujjars from Jammu and Kashmir, Kumhars from Uttar Pradesh, Yadavs from Puducherry, and Reddys and Vysyas from Telangana, among others.

“Fragments of DNA present in the founders of each of these populations have been handed down for at least 100 generations and persist today,” said Kumarasamy Thangaraj, a senior scientist at the Centre for Cellular and Molecular Biology (CCMB), Hyderabad, who led the study.

Thangaraj and his colleagues from Harvard University analysed sections of the genomic make-up of 2,800 individuals from 260 distinct South Asian population groups and assigned an “identity-by-descent” (IBD) score, a measure of common ancestry.

Each of the 14 population groups had higher IBD scores than Ashkenazi Jews and Finns, who have higher rates of certain congenital disorders such as cystic fibrosis (in the Jews), or congenital newborn kidney disease (in the Finns) than in general populations.

India’s Vyasa community in the southern states, for instance, with a census count of about 3 million, has a founder effect 1.2-fold stronger than in the Finnish population. Earlier studies have shown that members of the Vyasa community on average have unusually high rates of a specific enzyme deficiency that makes them particularly sensitive to certain drugs, including muscle relaxants, given prior to surgery.

The study underscores the potential to look for such recessive gene-linked diseases in such populations with strong founder events and within-community marriages. “Groups with strong founder events are expected to have a high recurrence rate of the same rare diseases that arise from mutations carried in the founders,” David Reich, principal investigator at Harvard University, told The Telegraph.

Mapping such mutations could help develop strategies for diagnosis, counselling, or managing such disorders. The scientists say a knowledge of these mutations could also guide match-making.

They cite an example of this strategy in a community genetic testing programme among Orthodox Ashkenazi Jews which screens students for common recessive disease-causing mutations and enters those results in a confidential database. Matchmakers can query this database to determine the risk of a couple passing a recessive gene to children. The risk is highest when both the boy and girl carry the same recessive gene.

“This strategy has reduced the rate of many recessive diseases to near-zero among Orthodox Ashkenazi Jews who use the service,” said Reich. “A similar strategy may (also) be effective in South Asians.”

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Disease-linked genes in 14 Indian groups – Calcutta Telegraph

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South Asia Rife with Undiscovered Genetic Disease? – MedPage Today

The well-known genetic isolation of Old Order Amish, Ashkenazi Jews, and Finns that has given rise to rare recessive diseases in those populations likely may be just a drop in the bucket compared with South Asia, researchers suggested.

In one of the first studies to look beyond consanguineous marriages there, researchers found that 81 out of 263 unique groups studied that are isolated by caste, language, religion, and geography “descend from founder events more extreme than those in Ashkenazi Jews and Finns, both of which have high rates of recessive disease due to founder events.”

Notably, 14 of those groups have populations of more than 1 million people, according to David Reich, DPhil, of Harvard, and colleagues mostly in India, writing in Nature Genetics.

“However, the groups with smaller census sizes are also important: outside of South Asia, groups with small census sizes and extremely strong founder events, such as the Amish, Hutterites, and people of the Saguenay-Lac Saint-Jean region have led to the discovery of dozens of novel disease-causing variants,” they wrote.

Reich and colleagues said the findings point to a big opportunity to improve health in South Asia (India, Pakistan, Bangladesh, Nepal, Bhutan, and Sri Lanka). Whereas many know to avoid marriage to close relatives, entire cultural groups are at risk of recessive diseases.

“As an example of the promise of founder-event mapping of disease-associated genes in South Asia, we highlight the case of the Vysya, who have a census size of more than 3 million and an estimated IBD [identity by descent] score approximately 1.2-fold higher than that of Finns. The Vysya have an approximately 100-fold higher rate of butyrylcholinesterase deficiency than other groups, and Vysya ancestry is a known counterindication for the use of muscle relaxants, such as succinylcholine or mivacurium, that are given before surgery.”

Many other recessive diseases are likely implicated too, as examples are known anecdotally in South Asia.

A “fruitful” way forward would be to take the same approach as taken in the 1950s for the Old Order Amish in the U.S. that mapped many dozens of recessive diseases. “That research program was crucial to founding modern medical genetics and provided extraordinary health benefits,” Reich’s group wrote. “Our results suggest that the potential for disease gene mapping in South Asia would be orders of magnitude greater.”

That’s especially true for these South Indian communities that often practice arranged marriages. A community genetic testing program among religious Ashkenazi Jews that feeds into a confidential database for matchmakers has almost eliminated recessive diseases such as Tay-Sachs in these communities. “A similar approach should work as well in South Asian communities,” Reich’s group wrote. “Given the potential for saving lives, this or similar types of research could be a valuable investment for future generations.”

The researchers disclosed no relevant relationships with industry.

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South Asia Rife with Undiscovered Genetic Disease? – MedPage Today

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Indians Prone To Rare Genetic Diseases: Study – BW Businessworld

People living in India and other South Asian countries are particularly vulnerable to rare genetic diseases, according to a genomic analysis that may help detect and prevent population-specific disorders.

Several diseases specific to South Asian populations had been identified in the past, but the genetic causes of the vast majority remained largely mysterious.

The study, led by Harvard Medical School (HMS) in the US and the CSIR – Centre for Cellular and Molecular Biology (CCMB) in Hyderabad, reveals that so-called founder events – in which a small number of ancestors give rise to many descendants – significantly contributed to high rates of population-specific, recessive diseases in the region.

“Our work highlights an opportunity to identify mutations that are responsible for population-specific disease and to test for and decrease the burden of recessive genetic diseases in South Asia,” said David Reich, professor of genetics at HMS and co-senior author of the study.

“Much of the focus of genetic research in India has been on diseases such as diabetes, thalassemia or sickle cell anaemia that are prevalent across populations,” said Kumarasamy Thangaraj, a scientist at the CCMB.

“But that misses the huge burden of disease caused by rare conditions,” said Thangaraj, co-senior author of the study published in the journal Nature Genetics.

“I hope this study motivates people in India to study the genetic features that are specific to each of these groups and to try to translate this to actionable medical research,” added Thangaraj.

“This is an opportunity to improve health for many in the Indian subcontinent,” he said.

The Indian subcontinent is one of the most genetically diverse places on Earth, with a population approaching 1.5 billion that includes nearly 5,000 well-defined subgroups, researchers said.

They analysed genome-wide data from more than 2,800 people from over 260 South Asian subgroups and found that nearly one-third of these subgroups derived from distinctive founder events.

Such founder events tend to limit genetic diversity.

Geographic, linguistic or cultural barriers, such as restrictions on marriage between groups, increase the likelihood that mates share much of the same ancestry.

This can lead to the perpetuation and proliferation of certain rare, recessive diseases, researchers said.

“Everybody carries a small number of mutations that could cause severe disease, but each person usually only has one copy – and two copies are needed to get sick,” said the study’s first author, Nathan Nakatsuka, a graduate student in the Reich lab.

“If parents have the same common ancestry, there is a greater risk that they will both carry the same recessive mutation, so their offspring are at much greater risk of inheriting the two copies needed to manifest disease,” said Nakatsuka.

Although the prevalence of these genetic variants increases disease risk, it also makes them easier to detect.

In the West, studies of similarly isolated populations have resulted in the discovery of many disease-causing genetic variants.

This has led to screening practices that have reduced the incidence of disease. The most well-known examples are tests that screen people of Ashkenazi Jewish descent for the genetic variants that cause Tay-Sachs disease.

Discovering disease-inducing genetic variants could lead to prenatal screenings to prevent disease, researchers said.

Efforts to screen for carrier status for disease variants have reduced the rate of rare recessive disease to almost zero in Western “founder” communities that practice arranged marriage, such as ultra-Orthodox Ashkenazi Jews.

Since arranged marriage is also common among some groups in India, this intervention might be similarly effective, researchers said.

(PTI)

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Indians Prone To Rare Genetic Diseases: Study – BW Businessworld

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South Asians more prone to genetic diseases: study – The Hindu


The Hindu
South Asians more prone to genetic diseases: study
The Hindu
We found that 81 out of 263 unique South Asian groups, including 14 groups with estimated census sizes of over a million, have a genetic mutation base with recessive diseases much more than the one that occurred in both Finns and Ashkenazi Jews in the …
Why South Asia is a 'living laboratory' to study population genetics and diseaseGenetic Literacy Project
Weddings within groups make most south Asian groups vulnerable to rare genetic diseases: StudyMumbai Mirror

all 12 news articles »

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South Asians more prone to genetic diseases: study – The Hindu

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Same caste marriages may lead to genetic disorders: India based study – The New Indian Express

HYDERABAD: Marrying within the same caste is harmful for health of the offspring of such couple, points out a study conducted by Center for Cellular and Molecular Biology, Hyderabad. The study busts commonly held assumption that only marrying within close relatives can cause genetic problems.

The report found out that even two people, not related to each other but belonging to same community, caste or tribe, if they marry each other, stands at the risk of transmitting the genetic defects in their DNA a result of age old endogamy practice to their offspring.

The study also raises the question of whether widely prevalent diseases in India were due to the practice of marrying within the same caste, community or tribe.

A study by a team of 17 scientists from various institutes led by Dr K Thangaraj of CCMB has found that the chances of diseases occurring in children due to genetic defects from parents, also known as recessive diseases, is very high in Indian communities because of endogamy, practice of marrying within the same community or caste in the Indian scenario.

The study was conducted on genome wide data collected from 2,800 individuals belonging to 260 communities from South Asia, around 80 percent of which were from India.

As part of study, the Identity by Descent (IBD) score was calculated for all 260 communities. IBD score gives an understanding of how vulnerable a population is to recessive diseases.

Shockingly, it was found that IBD scores of Indian communities was higher than that of even Ashkenazi Jews who are known for marrying in close communities among whom high prevalence of recessive diseases has been proven.

The report further found out that there was a high risk of recessive diseases and genetic defects, being passed on through generations, not “getting diluted”. IBD scores of 14 castes from India with populations above one million reportedly were higher than Ashkenazi Jews.

It was found that IBD score of Gujjar community was 11.6 times higher than the Ashkenazi Jews. Similarly IBD score of members of Reddy and Vyshya castes was higher than Ashkenazi Jews by 2 and 1.2 times. IBD score was 9.5 times, 9.2 times and 2.4 times higher among members of Pattapu Kapu, Vadde and Kshatriya Aqnikula castes of Andhra Pradesh.

Dr Thangaraj suggested that in future there might be organizations which might provide services of providing genetic faults in the couple from same caste which desires to get married and the probable effect it might have on their child.

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Same caste marriages may lead to genetic disorders: India based study – The New Indian Express

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In South Asian Social Castes, a Living Lab for Genetic Disease – The … – New York Times

Along with David Reich, a geneticist at Harvard Medical School, Dr. Thangaraj led an effort to analyze data from more than 2,800 individuals belonging to more than 260 distinct South Asian groups organized around caste, geography, family ties, language, religion and other factors. Of these, 81 groups had losses of genetic variation more extreme than those found in Ashkenazi Jews and Finns, groups with high rates of recessive disease because of genetic isolation.

In previous studies, Dr. Reich, Dr. Thangaraj and colleagues found that social groups in South Asia mixed between around 4,000 and 2,000 years ago. After that, the solidification of Indias caste system resulted in a shift toward endogamy. You can see writ in the genome the effects of this intense endogamy, Dr. Reich said.

Today, South Asia consists of around 5,000 anthropologically well-defined groups. Over 15 years, the researchers collected DNA from people belonging to a broad swath of these groups, resulting in a rich set of genetic data that pushes beyond the fields focus on individuals of European ancestry, Dr. Reich said.

The scientists then looked at something called the founder effect. When a population originates from a small group of founders that bred only with each other, certain genetic variants can become amplified, more so than in a larger starting population with more gene exchange.

Most people carry some disease-associated mutations that have no effect because theyre present only in one parents genes. In an endogamous group, however, its more likely that two individuals carry the same mutation from a common founder. If they reproduce, their offspring have a higher risk of inheriting that disease.

Rare conditions are therefore disproportionately common in populations with strong founder events. Among Finns, for instance, congenital nephrotic syndrome, a relatively rare kidney disease, is uniquely prevalent. Similarly, Ashkenazi Jews are often screened for diseases like cystic fibrosiss or Gaucher disease.

To measure the strength of different founder events, Dr. Reich and Dr. Thangarajs team looked for long stretches of DNA shared between individuals from the same subgroups. More shared sequences indicated a stronger founder event.

The strongest of these founder groups most likely started with major genetic contributions from just 100 people or fewer. Today, 14 groups with these genetic profiles in South Asia have estimated census sizes of over one million. These include the Gujjar, from Jammu and Kashmir; the Baniyas, from Uttar Pradesh; and the Pattapu Kapu, from Andhra Pradesh. All of these groups have estimated founder effects about 10 times as strong as those of Finns and Ashkenazi Jews, which suggests the South Asian groups have just as many, or more, recessive diseases, said Dr. Reich, who is of Ashkenazi Jewish heritage himself.

The next step, the authors say, is to map out and study the genetic origins of diseases prevalent in different groups. As proof of concept, they screened 12 patients from southern India for a gene mutation known to cause a joint disease called progressive pseudorheumatoid dysplasia. Of the six people that had the mutation, five instances could be traced to founder effects, and one case could be traced to a marriage between close relatives.

This distinction is important because its well documented that marriage between close relatives can increase the possibilities of recessive disease. But many South Asians are not yet aware that they should also look out for genetic risks among broader populations, said Svati Shah, an associate professor of medicine at Duke University who was not involved in the research.

Theres a tendency to think, This will never happen to me because I will never marry my first cousin, Dr. Shah said. But thats not whats happening here, according to the data.

There are many other suspected examples of disease associations that have yet to be systematically studied in South Asia. Some medical caregivers speculate that people with the surname Reddy may be more likely to develop a form of arthritis affecting the spine, Dr. Thangaraj said. Others think people from the Raju community, in southern India, may have higher incidents of cardiomyopathy, which affects the heart muscle.

If recessive disease mutations are cataloged, they could potentially be used for prenatal or premarital screening programs, which can be immensely powerful, said Priya Moorjani, an author of the paper and a postdoctoral researcher at Columbia University.

An example of successful genetic cataloging can be found in Dor Yeshorim, a Brooklyn-based organization that screens Ashkenazi and Sephardi Jews for common disease-causing mutations to inform marriage matchmaking. The program is credited with virtually eliminating new cases of Tay-Sachs disease, a neurodegenerative disorder, from these communities.

Beyond rare diseases, groups with founder effects hold lessons about common diseases and basic biology, said Alan Shuldiner, a professor of medicine at the University of Maryland and a genetics researcher for Regeneron Pharmaceuticals, who was not involved in the study. He and his collaborators have gained new insights into heart disease and Type 2 diabetes, for instance, from studying Old Order Amish.

Scientists often try to manipulate, or knock out, genes in mice or flies to better understand human disease. But populations like those found across South Asia provide a powerful opportunity to study how gene changes manifest naturally in humans. These are genetic experiments of nature that have occurred across the planet, Dr. Shuldiner said.

The sheer number of people and different groups in South Asia means theres a huge, untapped opportunity to do biological and genetic research there, Dr. Reich said.

He suggested that knockouts of almost every single gene in the genome probably exist in India.

I would argue that its unequal to anywhere else, he said.

A version of this article appears in print on July 18, 2017, on Page D3 of the New York edition with the headline: A Living Lab for Inherited Diseases.

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In South Asian Social Castes, a Living Lab for Genetic Disease – The … – New York Times

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What is pre-pregnancy carrier screening and should potential parents consider it? – Medical Xpress

July 14, 2017 by Gina Ravenscroft, Nigel Laing And Royston Ong, The Conversation Couples thinking about kids can be screened for genes that may cause disease in their offspring. Credit: Redd Angelo, Unsplash, CC BY-SA

The American College of Obstetricians and Gynecologists recently recommended obstetricians, gynaecologists and other related health care providers offer pre-pregnancy carrier screening for genetic diseases to all patients.

Pre-pregnancy carrier screening involves testing healthy adults for the presence of gene mutations that cause diseases that are not present in them, but if both parents have the same recessive gene, could eventuate in their children. This includes diseases such as cystic fibrosis and muscular dystrophies.

Who are genetic carriers?

If both partners in a couple carry the same recessive disease, then the couple have a one in four chance of a child with that disease. Carrier couples may therefore have multiple affected children. Some recessive diseases are relatively mild but others are severe, including many that cause death at or shortly after birth.

Newton Morton, one of the founders of genetic epidemiology, estimated from population data as long ago as 1956 that each of us is a carrier of three to five lethal recessive mutations and this has been confirmed by more recent research. This means we are all carriers of something, but most of us are generally unaware of our carrier status unless we have an affected child.

Pre-pregnancy carrier screening

Historically, pre-pregnancy carrier screening programs have been tailored for specific population groups who are more likely to have a recessive disease. For example, the recessive brain condition Tay-Sachs disease, which is usually fatal in early childhood, has a high incidence in the Ashkenazi-Jewish community.

In 1969 it was discovered the loss of an enzyme (called hexosaminidase A) causes the disease. This led to the development of tests allowing carriers for Tay-Sachs disease to be identified. The first pre-pregnancy carrier screening programs in the Ashkenazi population followed in the 1970s. Since then the incidence of Tay-Sachs disease has reduced by more than 90%.

Other such targeted pre-pregnancy carrier screening programs exist in other parts of the world. For example in Mediterranean countries where there is a high rate of the recessive blood disease thalassaemia, pre-pregnancy carrier screening was offered and this also resulted in a reduction in the incidence of the disease.

Today, the country with the most comprehensive pre-pregnancy carrier screening program is Israel. It introduced a national program in 2003 and by 2015, the program was screening approximately 60,000 people annually for nearly 100 recessive conditions. The Israeli program is tailored to the different ethnic groups in the country, but also includes diseases common in all ethnic groups such as spinal muscular atrophy.

Diagnostic laboratories around the world are now using technology that can sequence multiple individuals for hundreds of disorders at once. This technology is used to diagnose many different types of genetic diseases and is more effective than standard diagnostic testing. It has also been investigated for carrier screening and can detect carriers of multiple recessive disorders.

Benefits

When pre-pregnancy carrier screening programs are introduced, they reduce death and disease associated with the screened diseases. They can save families from experiencing the tragedy of a child affected by a significant genetic disease. They also reduce the burden of recessive disease within the population as a whole.

Each recessive disease is rare but there are hundreds of recessive diseases and so collectively they have wide-ranging social and economic impacts. A study of 50 severe recessive diseases found their collective incidence to be greater than that of Down syndrome (one in 600 compared to one in 1,100).

So pre-pregnancy carrier screening programs that include many genetic diseases, as now recommended by the American College, would maximise knowledge of genetic risk for couples.

Limitations

When testing genes, some identified variations are definitely harmful while most are definitely harmless. But for some variations we can’t be sure if they are harmful, and whether or not they will cause disease in any children.

And some mutations, called de novo mutations, arise spontaneously during the development of a child. These mutations cannot be detected by pre-pregnancy screening.

So while the risk of having an affected child is reduced by pre-pregnancy carrier screening, it is not eliminated.

There are no guarantees that pre-pregnancy screening will result in a healthy baby, but it will allow couples options to reduce the burden of disease associated with known disease-causing mutations.

Counselling is required before and after the test to explain the risks to couples.

There is little health risk from the test, no more than the risk associated with taking a blood sample. The cost may be prohibitive for many couples, though. While it depends on the number of genes screened, costs may be several hundred dollars per person.

Can and should we have testing in Australia?

A small number of targeted pre-pregnancy carrier screening programs have been in place in Australia for a number of years including for Ashkenazi populations, for individuals with a family history of various diseases, and in IVF clinics. In Victoria the Victorian Clinical Genetics Service offers private pre-pregnancy carrier screening.

Several Australian groups, such as the Australian Genomics Health Alliance, are researching ways to screen larger numbers of genes. It remains to be seen if Australian bodies will make similar recommendations to those in the US.

Explore further: ACOG recommends use of carrier screening before pregnancy

This article was originally published on The Conversation. Read the original article.

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What is pre-pregnancy carrier screening and should potential parents consider it? – Medical Xpress

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Home Movies – Arkansas Online

Norman,

directed by Joseph Cedar

(R, 1 hour, 58 minutes)

Norman Oppenheimer is a guy who claims to have more inside information than you figure he can, who only wants a minute of your time to pitch you on a deal that could work out for everyone. He’s a name dropper who tends to exaggerate his importance. Maybe you’ve listened politely to Norman, maybe you’ve brushed him off.

He’s not a bad guy. It’s just that he pushes a little too hard.

We meet Norman doing what he does. He tries to trade on the slightest connection, he ambushes captains of industry in the streets, and he is, sometimes kindly but always firmly, rebuffed.

But then he catches low-level Israeli politician Micha Eshel (Israeli actor Lior Ashkenazi) — the deputy of a deputy minister — at a vulnerable time.

Three years later, that politician is elected prime minister of Israel. Norman is in the crowd, clapping and smiling beatifically. Maybe that vulnerability will pay off for him.

Norman is remarkable for the gentle and precisely calibrated performances of Richard Gere, who plays (once again) against his dashing type as the deferential yet dignified would-be deal maker, and Ashkenazi, who as Eshel displays genuine affection and gratitude for Norman.

Director Cedar has crafted a bright and modest movie about ordinary people running up against their limitations. That might sound like a weak response to the superheroes on the loose this summer, but if you’re looking for something a little more grown up, a little less sweet, have I got a deal for you.

With Charlotte Gainsbourg, Steve Buscemi, Michael Sheen.

Their Finest (R, 1 hour, 57 minutes) This witty, meandering, intelligent comedic drama, set in London in 1940, concerns the hiring of Catrin Cole (Gemma Arterton) to write female dialogue for morale-boosting propaganda films produced by the British government, which leads her to work on an epic feature based on the Dunkirk rescue starring former matinee idol Ambrose Hilliard (Bill Nighy). With Sam Claflin. Richard E. Grant, Jake Lacy; directed by Lone Scherfig.

The Fate of the Furious (PG-13, 2 hours, 16 minutes) The kinetic horsepower-fueled franchise returns for the eighth time, predictable as ever, with the classy addition of Charlize Theron as a coolly competent villain named Cipher and a cameo by Helen Mirren. With Vin Diesel, Dwayne Johnson, Michelle Rodriguez, Tyrese Gibson, Ludacris, Kurt Russell, Jason Statham and Scott Eastwood; directed by F. Gary Gray.

Violet (not rated, 1 hour, 25 minutes) An ambitious, quiet, and tautly focused psychological drama, set in a rural area of Belgium. A vicious attack on a teenager at a mall forces the kid’s 15-year-old friend, Jesse (Cesar De Sutter), to try to come to grips with senseless trauma. Could he have prevented the violence? With Mira Helmer; directed by Bas Devos.

The Lost City of Z (PG-13, 2 hours, 21 minutes) A long-winded yet spirited and elegant portrayal of ambitious British 20th-century explorer Percy Fawcett (a fine performance by Charlie Hunnam) who, while exploring remote reaches of the lush Amazon jungle in Bolivia, encounters signs of a previously undiscovered civilization and hears rumors of a city no white man has ever seen. Based on the nonfiction book by David Grann. With Tom Holland, Sienna Miller, Robert Pattinson; directed by James Gray.

MovieStyle on 07/14/2017

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Explainer: what is pre-pregnancy carrier screening and should potential parents consider it? – The Conversation AU

Couples thinking about kids can be screened for genes that may cause disease in their offspring.

The American College of Obstetricians and Gynecologists recently recommended obstetricians, gynaecologists and other related health care providers offer pre-pregnancy carrier screening for genetic diseases to all patients.

Pre-pregnancy carrier screening involves testing healthy adults for the presence of gene mutations that cause diseases that are not present in them, but if both parents have the same recessive gene, could eventuate in their children. This includes diseases such as cystic fibrosis and muscular dystrophies.

If both partners in a couple carry the same recessive disease, then the couple have a one in four chance of a child with that disease. Carrier couples may therefore have multiple affected children. Some recessive diseases are relatively mild but others are severe, including many that cause death at or shortly after birth.

Newton Morton, one of the founders of genetic epidemiology, estimated from population data as long ago as 1956 that each of us is a carrier of three to five lethal recessive mutations and this has been confirmed by more recent research. This means we are all carriers of something, but most of us are generally unaware of our carrier status unless we have an affected child.

Historically, pre-pregnancy carrier screening programs have been tailored for specific population groups who are more likely to have a recessive disease. For example, the recessive brain condition Tay-Sachs disease, which is usually fatal in early childhood, has a high incidence in the Ashkenazi-Jewish community.

In 1969 it was discovered the loss of an enzyme (called hexosaminidase A) causes the disease. This led to the development of tests allowing carriers for Tay-Sachs disease to be identified. The first pre-pregnancy carrier screening programs in the Ashkenazi population followed in the 1970s. Since then the incidence of Tay-Sachs disease has reduced by more than 90%.

Other such targeted pre-pregnancy carrier screening programs exist in other parts of the world. For example in Mediterranean countries where there is a high rate of the recessive blood disease thalassaemia, pre-pregnancy carrier screening was offered and this also resulted in a reduction in the incidence of the disease.

Today, the country with the most comprehensive pre-pregnancy carrier screening program is Israel. It introduced a national program in 2003 and by 2015, the program was screening approximately 60,000 people annually for nearly 100 recessive conditions. The Israeli program is tailored to the different ethnic groups in the country, but also includes diseases common in all ethnic groups such as spinal muscular atrophy.

Diagnostic laboratories around the world are now using technology that can sequence multiple individuals for hundreds of disorders at once. This technology is used to diagnose many different types of genetic diseases and is more effective than standard diagnostic testing. It has also been investigated for carrier screening and can detect carriers of multiple recessive disorders.

When pre-pregnancy carrier screening programs are introduced, they reduce death and disease associated with the screened diseases. They can save families from experiencing the tragedy of a child affected by a significant genetic disease. They also reduce the burden of recessive disease within the population as a whole.

Each recessive disease is rare but there are hundreds of recessive diseases and so collectively they have wide-ranging social and economic impacts. A study of 50 severe recessive diseases found their collective incidence to be greater than that of Down syndrome (one in 600 compared to one in 1,100).

So pre-pregnancy carrier screening programs that include many genetic diseases, as now recommended by the American College, would maximise knowledge of genetic risk for couples.

When testing genes, some identified variations are definitely harmful while most are definitely harmless. But for some variations we cant be sure if they are harmful, and whether or not they will cause disease in any children.

And some mutations, called de novo mutations, arise spontaneously during the development of a child. These mutations cannot be detected by pre-pregnancy screening.

So while the risk of having an affected child is reduced by pre-pregnancy carrier screening, it is not eliminated.

There are no guarantees that pre-pregnancy screening will result in a healthy baby, but it will allow couples options to reduce the burden of disease associated with known disease-causing mutations.

Counselling is required before and after the test to explain the risks to couples.

There is little health risk from the test, no more than the risk associated with taking a blood sample. The cost may be prohibitive for many couples, though. While it depends on the number of genes screened, costs may be several hundred dollars per person.

A small number of targeted pre-pregnancy carrier screening programs have been in place in Australia for a number of years including for Ashkenazi populations, for individuals with a family history of various diseases, and in IVF clinics. In Victoria the Victorian Clinical Genetics Service offers private pre-pregnancy carrier screening.

Several Australian groups, such as the Australian Genomics Health Alliance, are researching ways to screen larger numbers of genes. It remains to be seen if Australian bodies will make similar recommendations to those in the US.

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Explainer: what is pre-pregnancy carrier screening and should potential parents consider it? – The Conversation AU

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Disease-linked genes in 14 Indian groups – Calcutta Telegraph

New Delhi, July 19: Millions of people in each of at least 14 population groups across the Indian subcontinent may possess disease-linked genes, inherited from roots in founding populations and passed down generations through within-community marriages. A genetic study of 260 distinct South Asian population groups has identified 14 groups, each with census counts of more than one million and each displaying genetic evidence for what scientists call “founder events”, or descent from small founding populations. Scientists have long known that similar founder events for certain populations such as the Ashkenazi Jews or the Finns have contributed to high rates of so-called recessive disease-linked genes in these populations. The South Asian study, published yesterday in the research journal Nature Genetics, has now detected a stronger founder-effect in the 14 populations than what had been observed in the Ashkenazi Jews or the Finns. The 14 groups sampled in the study were Arunthathiyars from Tamil Nadu, Baniyas from Uttar Pradesh, Manipur Brahmins, Nepal Brahmins, Gujjars from Jammu and Kashmir, Kumhars from Uttar Pradesh, Yadavs from Puducherry, and Reddys and Vysyas from Telangana, among others. “Fragments of DNA present in the founders of each of these populations have been handed down for at least 100 generations and persist today,” said Kumarasamy Thangaraj, a senior scientist at the Centre for Cellular and Molecular Biology (CCMB), Hyderabad, who led the study. Thangaraj and his colleagues from Harvard University analysed sections of the genomic make-up of 2,800 individuals from 260 distinct South Asian population groups and assigned an “identity-by-descent” (IBD) score, a measure of common ancestry. Each of the 14 population groups had higher IBD scores than Ashkenazi Jews and Finns, who have higher rates of certain congenital disorders such as cystic fibrosis (in the Jews), or congenital newborn kidney disease (in the Finns) than in general populations. India’s Vyasa community in the southern states, for instance, with a census count of about 3 million, has a founder effect 1.2-fold stronger than in the Finnish population. Earlier studies have shown that members of the Vyasa community on average have unusually high rates of a specific enzyme deficiency that makes them particularly sensitive to certain drugs, including muscle relaxants, given prior to surgery. The study underscores the potential to look for such recessive gene-linked diseases in such populations with strong founder events and within-community marriages. “Groups with strong founder events are expected to have a high recurrence rate of the same rare diseases that arise from mutations carried in the founders,” David Reich, principal investigator at Harvard University, told The Telegraph. Mapping such mutations could help develop strategies for diagnosis, counselling, or managing such disorders. The scientists say a knowledge of these mutations could also guide match-making. They cite an example of this strategy in a community genetic testing programme among Orthodox Ashkenazi Jews which screens students for common recessive disease-causing mutations and enters those results in a confidential database. Matchmakers can query this database to determine the risk of a couple passing a recessive gene to children. The risk is highest when both the boy and girl carry the same recessive gene. “This strategy has reduced the rate of many recessive diseases to near-zero among Orthodox Ashkenazi Jews who use the service,” said Reich. “A similar strategy may (also) be effective in South Asians.”

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South Asia Rife with Undiscovered Genetic Disease? – MedPage Today

The well-known genetic isolation of Old Order Amish, Ashkenazi Jews, and Finns that has given rise to rare recessive diseases in those populations likely may be just a drop in the bucket compared with South Asia, researchers suggested. In one of the first studies to look beyond consanguineous marriages there, researchers found that 81 out of 263 unique groups studied that are isolated by caste, language, religion, and geography “descend from founder events more extreme than those in Ashkenazi Jews and Finns, both of which have high rates of recessive disease due to founder events.” Notably, 14 of those groups have populations of more than 1 million people, according to David Reich, DPhil, of Harvard, and colleagues mostly in India, writing in Nature Genetics. “However, the groups with smaller census sizes are also important: outside of South Asia, groups with small census sizes and extremely strong founder events, such as the Amish, Hutterites, and people of the Saguenay-Lac Saint-Jean region have led to the discovery of dozens of novel disease-causing variants,” they wrote. Reich and colleagues said the findings point to a big opportunity to improve health in South Asia (India, Pakistan, Bangladesh, Nepal, Bhutan, and Sri Lanka). Whereas many know to avoid marriage to close relatives, entire cultural groups are at risk of recessive diseases. “As an example of the promise of founder-event mapping of disease-associated genes in South Asia, we highlight the case of the Vysya, who have a census size of more than 3 million and an estimated IBD [identity by descent] score approximately 1.2-fold higher than that of Finns. The Vysya have an approximately 100-fold higher rate of butyrylcholinesterase deficiency than other groups, and Vysya ancestry is a known counterindication for the use of muscle relaxants, such as succinylcholine or mivacurium, that are given before surgery.” Many other recessive diseases are likely implicated too, as examples are known anecdotally in South Asia. A “fruitful” way forward would be to take the same approach as taken in the 1950s for the Old Order Amish in the U.S. that mapped many dozens of recessive diseases. “That research program was crucial to founding modern medical genetics and provided extraordinary health benefits,” Reich’s group wrote. “Our results suggest that the potential for disease gene mapping in South Asia would be orders of magnitude greater.” That’s especially true for these South Indian communities that often practice arranged marriages. A community genetic testing program among religious Ashkenazi Jews that feeds into a confidential database for matchmakers has almost eliminated recessive diseases such as Tay-Sachs in these communities. “A similar approach should work as well in South Asian communities,” Reich’s group wrote. “Given the potential for saving lives, this or similar types of research could be a valuable investment for future generations.” The researchers disclosed no relevant relationships with industry.

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Indians Prone To Rare Genetic Diseases: Study – BW Businessworld

People living in India and other South Asian countries are particularly vulnerable to rare genetic diseases, according to a genomic analysis that may help detect and prevent population-specific disorders. Several diseases specific to South Asian populations had been identified in the past, but the genetic causes of the vast majority remained largely mysterious. The study, led by Harvard Medical School (HMS) in the US and the CSIR – Centre for Cellular and Molecular Biology (CCMB) in Hyderabad, reveals that so-called founder events – in which a small number of ancestors give rise to many descendants – significantly contributed to high rates of population-specific, recessive diseases in the region. “Our work highlights an opportunity to identify mutations that are responsible for population-specific disease and to test for and decrease the burden of recessive genetic diseases in South Asia,” said David Reich, professor of genetics at HMS and co-senior author of the study. “Much of the focus of genetic research in India has been on diseases such as diabetes, thalassemia or sickle cell anaemia that are prevalent across populations,” said Kumarasamy Thangaraj, a scientist at the CCMB. “But that misses the huge burden of disease caused by rare conditions,” said Thangaraj, co-senior author of the study published in the journal Nature Genetics. “I hope this study motivates people in India to study the genetic features that are specific to each of these groups and to try to translate this to actionable medical research,” added Thangaraj. “This is an opportunity to improve health for many in the Indian subcontinent,” he said. The Indian subcontinent is one of the most genetically diverse places on Earth, with a population approaching 1.5 billion that includes nearly 5,000 well-defined subgroups, researchers said. They analysed genome-wide data from more than 2,800 people from over 260 South Asian subgroups and found that nearly one-third of these subgroups derived from distinctive founder events. Such founder events tend to limit genetic diversity. Geographic, linguistic or cultural barriers, such as restrictions on marriage between groups, increase the likelihood that mates share much of the same ancestry. This can lead to the perpetuation and proliferation of certain rare, recessive diseases, researchers said. “Everybody carries a small number of mutations that could cause severe disease, but each person usually only has one copy – and two copies are needed to get sick,” said the study’s first author, Nathan Nakatsuka, a graduate student in the Reich lab. “If parents have the same common ancestry, there is a greater risk that they will both carry the same recessive mutation, so their offspring are at much greater risk of inheriting the two copies needed to manifest disease,” said Nakatsuka. Although the prevalence of these genetic variants increases disease risk, it also makes them easier to detect. In the West, studies of similarly isolated populations have resulted in the discovery of many disease-causing genetic variants. This has led to screening practices that have reduced the incidence of disease. The most well-known examples are tests that screen people of Ashkenazi Jewish descent for the genetic variants that cause Tay-Sachs disease. Discovering disease-inducing genetic variants could lead to prenatal screenings to prevent disease, researchers said. Efforts to screen for carrier status for disease variants have reduced the rate of rare recessive disease to almost zero in Western “founder” communities that practice arranged marriage, such as ultra-Orthodox Ashkenazi Jews. Since arranged marriage is also common among some groups in India, this intervention might be similarly effective, researchers said. (PTI)

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South Asians more prone to genetic diseases: study – The Hindu

The Hindu South Asians more prone to genetic diseases: study The Hindu We found that 81 out of 263 unique South Asian groups, including 14 groups with estimated census sizes of over a million, have a genetic mutation base with recessive diseases much more than the one that occurred in both Finns and Ashkenazi Jews in the … Why South Asia is a 'living laboratory' to study population genetics and disease Genetic Literacy Project Weddings within groups make most south Asian groups vulnerable to rare genetic diseases: Study Mumbai Mirror all 12 news articles »

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Same caste marriages may lead to genetic disorders: India based study – The New Indian Express

HYDERABAD: Marrying within the same caste is harmful for health of the offspring of such couple, points out a study conducted by Center for Cellular and Molecular Biology, Hyderabad. The study busts commonly held assumption that only marrying within close relatives can cause genetic problems. The report found out that even two people, not related to each other but belonging to same community, caste or tribe, if they marry each other, stands at the risk of transmitting the genetic defects in their DNA a result of age old endogamy practice to their offspring. The study also raises the question of whether widely prevalent diseases in India were due to the practice of marrying within the same caste, community or tribe. A study by a team of 17 scientists from various institutes led by Dr K Thangaraj of CCMB has found that the chances of diseases occurring in children due to genetic defects from parents, also known as recessive diseases, is very high in Indian communities because of endogamy, practice of marrying within the same community or caste in the Indian scenario. The study was conducted on genome wide data collected from 2,800 individuals belonging to 260 communities from South Asia, around 80 percent of which were from India. As part of study, the Identity by Descent (IBD) score was calculated for all 260 communities. IBD score gives an understanding of how vulnerable a population is to recessive diseases. Shockingly, it was found that IBD scores of Indian communities was higher than that of even Ashkenazi Jews who are known for marrying in close communities among whom high prevalence of recessive diseases has been proven. The report further found out that there was a high risk of recessive diseases and genetic defects, being passed on through generations, not “getting diluted”. IBD scores of 14 castes from India with populations above one million reportedly were higher than Ashkenazi Jews. It was found that IBD score of Gujjar community was 11.6 times higher than the Ashkenazi Jews. Similarly IBD score of members of Reddy and Vyshya castes was higher than Ashkenazi Jews by 2 and 1.2 times. IBD score was 9.5 times, 9.2 times and 2.4 times higher among members of Pattapu Kapu, Vadde and Kshatriya Aqnikula castes of Andhra Pradesh. Dr Thangaraj suggested that in future there might be organizations which might provide services of providing genetic faults in the couple from same caste which desires to get married and the probable effect it might have on their child.

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In South Asian Social Castes, a Living Lab for Genetic Disease – The … – New York Times

Along with David Reich, a geneticist at Harvard Medical School, Dr. Thangaraj led an effort to analyze data from more than 2,800 individuals belonging to more than 260 distinct South Asian groups organized around caste, geography, family ties, language, religion and other factors. Of these, 81 groups had losses of genetic variation more extreme than those found in Ashkenazi Jews and Finns, groups with high rates of recessive disease because of genetic isolation. In previous studies, Dr. Reich, Dr. Thangaraj and colleagues found that social groups in South Asia mixed between around 4,000 and 2,000 years ago. After that, the solidification of Indias caste system resulted in a shift toward endogamy. You can see writ in the genome the effects of this intense endogamy, Dr. Reich said. Today, South Asia consists of around 5,000 anthropologically well-defined groups. Over 15 years, the researchers collected DNA from people belonging to a broad swath of these groups, resulting in a rich set of genetic data that pushes beyond the fields focus on individuals of European ancestry, Dr. Reich said. The scientists then looked at something called the founder effect. When a population originates from a small group of founders that bred only with each other, certain genetic variants can become amplified, more so than in a larger starting population with more gene exchange. Most people carry some disease-associated mutations that have no effect because theyre present only in one parents genes. In an endogamous group, however, its more likely that two individuals carry the same mutation from a common founder. If they reproduce, their offspring have a higher risk of inheriting that disease. Rare conditions are therefore disproportionately common in populations with strong founder events. Among Finns, for instance, congenital nephrotic syndrome, a relatively rare kidney disease, is uniquely prevalent. Similarly, Ashkenazi Jews are often screened for diseases like cystic fibrosiss or Gaucher disease. To measure the strength of different founder events, Dr. Reich and Dr. Thangarajs team looked for long stretches of DNA shared between individuals from the same subgroups. More shared sequences indicated a stronger founder event. The strongest of these founder groups most likely started with major genetic contributions from just 100 people or fewer. Today, 14 groups with these genetic profiles in South Asia have estimated census sizes of over one million. These include the Gujjar, from Jammu and Kashmir; the Baniyas, from Uttar Pradesh; and the Pattapu Kapu, from Andhra Pradesh. All of these groups have estimated founder effects about 10 times as strong as those of Finns and Ashkenazi Jews, which suggests the South Asian groups have just as many, or more, recessive diseases, said Dr. Reich, who is of Ashkenazi Jewish heritage himself. The next step, the authors say, is to map out and study the genetic origins of diseases prevalent in different groups. As proof of concept, they screened 12 patients from southern India for a gene mutation known to cause a joint disease called progressive pseudorheumatoid dysplasia. Of the six people that had the mutation, five instances could be traced to founder effects, and one case could be traced to a marriage between close relatives. This distinction is important because its well documented that marriage between close relatives can increase the possibilities of recessive disease. But many South Asians are not yet aware that they should also look out for genetic risks among broader populations, said Svati Shah, an associate professor of medicine at Duke University who was not involved in the research. Theres a tendency to think, This will never happen to me because I will never marry my first cousin, Dr. Shah said. But thats not whats happening here, according to the data. There are many other suspected examples of disease associations that have yet to be systematically studied in South Asia. Some medical caregivers speculate that people with the surname Reddy may be more likely to develop a form of arthritis affecting the spine, Dr. Thangaraj said. Others think people from the Raju community, in southern India, may have higher incidents of cardiomyopathy, which affects the heart muscle. If recessive disease mutations are cataloged, they could potentially be used for prenatal or premarital screening programs, which can be immensely powerful, said Priya Moorjani, an author of the paper and a postdoctoral researcher at Columbia University. An example of successful genetic cataloging can be found in Dor Yeshorim, a Brooklyn-based organization that screens Ashkenazi and Sephardi Jews for common disease-causing mutations to inform marriage matchmaking. The program is credited with virtually eliminating new cases of Tay-Sachs disease, a neurodegenerative disorder, from these communities. Beyond rare diseases, groups with founder effects hold lessons about common diseases and basic biology, said Alan Shuldiner, a professor of medicine at the University of Maryland and a genetics researcher for Regeneron Pharmaceuticals, who was not involved in the study. He and his collaborators have gained new insights into heart disease and Type 2 diabetes, for instance, from studying Old Order Amish. Scientists often try to manipulate, or knock out, genes in mice or flies to better understand human disease. But populations like those found across South Asia provide a powerful opportunity to study how gene changes manifest naturally in humans. These are genetic experiments of nature that have occurred across the planet, Dr. Shuldiner said. The sheer number of people and different groups in South Asia means theres a huge, untapped opportunity to do biological and genetic research there, Dr. Reich said. He suggested that knockouts of almost every single gene in the genome probably exist in India. I would argue that its unequal to anywhere else, he said. A version of this article appears in print on July 18, 2017, on Page D3 of the New York edition with the headline: A Living Lab for Inherited Diseases.

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What is pre-pregnancy carrier screening and should potential parents consider it? – Medical Xpress

July 14, 2017 by Gina Ravenscroft, Nigel Laing And Royston Ong, The Conversation Couples thinking about kids can be screened for genes that may cause disease in their offspring. Credit: Redd Angelo, Unsplash, CC BY-SA The American College of Obstetricians and Gynecologists recently recommended obstetricians, gynaecologists and other related health care providers offer pre-pregnancy carrier screening for genetic diseases to all patients. Pre-pregnancy carrier screening involves testing healthy adults for the presence of gene mutations that cause diseases that are not present in them, but if both parents have the same recessive gene, could eventuate in their children. This includes diseases such as cystic fibrosis and muscular dystrophies. Who are genetic carriers? If both partners in a couple carry the same recessive disease, then the couple have a one in four chance of a child with that disease. Carrier couples may therefore have multiple affected children. Some recessive diseases are relatively mild but others are severe, including many that cause death at or shortly after birth. Newton Morton, one of the founders of genetic epidemiology, estimated from population data as long ago as 1956 that each of us is a carrier of three to five lethal recessive mutations and this has been confirmed by more recent research. This means we are all carriers of something, but most of us are generally unaware of our carrier status unless we have an affected child. Pre-pregnancy carrier screening Historically, pre-pregnancy carrier screening programs have been tailored for specific population groups who are more likely to have a recessive disease. For example, the recessive brain condition Tay-Sachs disease, which is usually fatal in early childhood, has a high incidence in the Ashkenazi-Jewish community. In 1969 it was discovered the loss of an enzyme (called hexosaminidase A) causes the disease. This led to the development of tests allowing carriers for Tay-Sachs disease to be identified. The first pre-pregnancy carrier screening programs in the Ashkenazi population followed in the 1970s. Since then the incidence of Tay-Sachs disease has reduced by more than 90%. Other such targeted pre-pregnancy carrier screening programs exist in other parts of the world. For example in Mediterranean countries where there is a high rate of the recessive blood disease thalassaemia, pre-pregnancy carrier screening was offered and this also resulted in a reduction in the incidence of the disease. Today, the country with the most comprehensive pre-pregnancy carrier screening program is Israel. It introduced a national program in 2003 and by 2015, the program was screening approximately 60,000 people annually for nearly 100 recessive conditions. The Israeli program is tailored to the different ethnic groups in the country, but also includes diseases common in all ethnic groups such as spinal muscular atrophy. Diagnostic laboratories around the world are now using technology that can sequence multiple individuals for hundreds of disorders at once. This technology is used to diagnose many different types of genetic diseases and is more effective than standard diagnostic testing. It has also been investigated for carrier screening and can detect carriers of multiple recessive disorders. Benefits When pre-pregnancy carrier screening programs are introduced, they reduce death and disease associated with the screened diseases. They can save families from experiencing the tragedy of a child affected by a significant genetic disease. They also reduce the burden of recessive disease within the population as a whole. Each recessive disease is rare but there are hundreds of recessive diseases and so collectively they have wide-ranging social and economic impacts. A study of 50 severe recessive diseases found their collective incidence to be greater than that of Down syndrome (one in 600 compared to one in 1,100). So pre-pregnancy carrier screening programs that include many genetic diseases, as now recommended by the American College, would maximise knowledge of genetic risk for couples. Limitations When testing genes, some identified variations are definitely harmful while most are definitely harmless. But for some variations we can’t be sure if they are harmful, and whether or not they will cause disease in any children. And some mutations, called de novo mutations, arise spontaneously during the development of a child. These mutations cannot be detected by pre-pregnancy screening. So while the risk of having an affected child is reduced by pre-pregnancy carrier screening, it is not eliminated. There are no guarantees that pre-pregnancy screening will result in a healthy baby, but it will allow couples options to reduce the burden of disease associated with known disease-causing mutations. Counselling is required before and after the test to explain the risks to couples. There is little health risk from the test, no more than the risk associated with taking a blood sample. The cost may be prohibitive for many couples, though. While it depends on the number of genes screened, costs may be several hundred dollars per person. Can and should we have testing in Australia? A small number of targeted pre-pregnancy carrier screening programs have been in place in Australia for a number of years including for Ashkenazi populations, for individuals with a family history of various diseases, and in IVF clinics. In Victoria the Victorian Clinical Genetics Service offers private pre-pregnancy carrier screening. Several Australian groups, such as the Australian Genomics Health Alliance, are researching ways to screen larger numbers of genes. It remains to be seen if Australian bodies will make similar recommendations to those in the US. Explore further: ACOG recommends use of carrier screening before pregnancy This article was originally published on The Conversation. Read the original article. Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

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Home Movies – Arkansas Online

Norman, directed by Joseph Cedar (R, 1 hour, 58 minutes) Norman Oppenheimer is a guy who claims to have more inside information than you figure he can, who only wants a minute of your time to pitch you on a deal that could work out for everyone. He’s a name dropper who tends to exaggerate his importance. Maybe you’ve listened politely to Norman, maybe you’ve brushed him off. He’s not a bad guy. It’s just that he pushes a little too hard. We meet Norman doing what he does. He tries to trade on the slightest connection, he ambushes captains of industry in the streets, and he is, sometimes kindly but always firmly, rebuffed. But then he catches low-level Israeli politician Micha Eshel (Israeli actor Lior Ashkenazi) — the deputy of a deputy minister — at a vulnerable time. Three years later, that politician is elected prime minister of Israel. Norman is in the crowd, clapping and smiling beatifically. Maybe that vulnerability will pay off for him. Norman is remarkable for the gentle and precisely calibrated performances of Richard Gere, who plays (once again) against his dashing type as the deferential yet dignified would-be deal maker, and Ashkenazi, who as Eshel displays genuine affection and gratitude for Norman. Director Cedar has crafted a bright and modest movie about ordinary people running up against their limitations. That might sound like a weak response to the superheroes on the loose this summer, but if you’re looking for something a little more grown up, a little less sweet, have I got a deal for you. With Charlotte Gainsbourg, Steve Buscemi, Michael Sheen. Their Finest (R, 1 hour, 57 minutes) This witty, meandering, intelligent comedic drama, set in London in 1940, concerns the hiring of Catrin Cole (Gemma Arterton) to write female dialogue for morale-boosting propaganda films produced by the British government, which leads her to work on an epic feature based on the Dunkirk rescue starring former matinee idol Ambrose Hilliard (Bill Nighy). With Sam Claflin. Richard E. Grant, Jake Lacy; directed by Lone Scherfig. The Fate of the Furious (PG-13, 2 hours, 16 minutes) The kinetic horsepower-fueled franchise returns for the eighth time, predictable as ever, with the classy addition of Charlize Theron as a coolly competent villain named Cipher and a cameo by Helen Mirren. With Vin Diesel, Dwayne Johnson, Michelle Rodriguez, Tyrese Gibson, Ludacris, Kurt Russell, Jason Statham and Scott Eastwood; directed by F. Gary Gray. Violet (not rated, 1 hour, 25 minutes) An ambitious, quiet, and tautly focused psychological drama, set in a rural area of Belgium. A vicious attack on a teenager at a mall forces the kid’s 15-year-old friend, Jesse (Cesar De Sutter), to try to come to grips with senseless trauma. Could he have prevented the violence? With Mira Helmer; directed by Bas Devos. The Lost City of Z (PG-13, 2 hours, 21 minutes) A long-winded yet spirited and elegant portrayal of ambitious British 20th-century explorer Percy Fawcett (a fine performance by Charlie Hunnam) who, while exploring remote reaches of the lush Amazon jungle in Bolivia, encounters signs of a previously undiscovered civilization and hears rumors of a city no white man has ever seen. Based on the nonfiction book by David Grann. With Tom Holland, Sienna Miller, Robert Pattinson; directed by James Gray. MovieStyle on 07/14/2017

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Explainer: what is pre-pregnancy carrier screening and should potential parents consider it? – The Conversation AU

Couples thinking about kids can be screened for genes that may cause disease in their offspring. The American College of Obstetricians and Gynecologists recently recommended obstetricians, gynaecologists and other related health care providers offer pre-pregnancy carrier screening for genetic diseases to all patients. Pre-pregnancy carrier screening involves testing healthy adults for the presence of gene mutations that cause diseases that are not present in them, but if both parents have the same recessive gene, could eventuate in their children. This includes diseases such as cystic fibrosis and muscular dystrophies. If both partners in a couple carry the same recessive disease, then the couple have a one in four chance of a child with that disease. Carrier couples may therefore have multiple affected children. Some recessive diseases are relatively mild but others are severe, including many that cause death at or shortly after birth. Newton Morton, one of the founders of genetic epidemiology, estimated from population data as long ago as 1956 that each of us is a carrier of three to five lethal recessive mutations and this has been confirmed by more recent research. This means we are all carriers of something, but most of us are generally unaware of our carrier status unless we have an affected child. Historically, pre-pregnancy carrier screening programs have been tailored for specific population groups who are more likely to have a recessive disease. For example, the recessive brain condition Tay-Sachs disease, which is usually fatal in early childhood, has a high incidence in the Ashkenazi-Jewish community. In 1969 it was discovered the loss of an enzyme (called hexosaminidase A) causes the disease. This led to the development of tests allowing carriers for Tay-Sachs disease to be identified. The first pre-pregnancy carrier screening programs in the Ashkenazi population followed in the 1970s. Since then the incidence of Tay-Sachs disease has reduced by more than 90%. Other such targeted pre-pregnancy carrier screening programs exist in other parts of the world. For example in Mediterranean countries where there is a high rate of the recessive blood disease thalassaemia, pre-pregnancy carrier screening was offered and this also resulted in a reduction in the incidence of the disease. Today, the country with the most comprehensive pre-pregnancy carrier screening program is Israel. It introduced a national program in 2003 and by 2015, the program was screening approximately 60,000 people annually for nearly 100 recessive conditions. The Israeli program is tailored to the different ethnic groups in the country, but also includes diseases common in all ethnic groups such as spinal muscular atrophy. Diagnostic laboratories around the world are now using technology that can sequence multiple individuals for hundreds of disorders at once. This technology is used to diagnose many different types of genetic diseases and is more effective than standard diagnostic testing. It has also been investigated for carrier screening and can detect carriers of multiple recessive disorders. When pre-pregnancy carrier screening programs are introduced, they reduce death and disease associated with the screened diseases. They can save families from experiencing the tragedy of a child affected by a significant genetic disease. They also reduce the burden of recessive disease within the population as a whole. Each recessive disease is rare but there are hundreds of recessive diseases and so collectively they have wide-ranging social and economic impacts. A study of 50 severe recessive diseases found their collective incidence to be greater than that of Down syndrome (one in 600 compared to one in 1,100). So pre-pregnancy carrier screening programs that include many genetic diseases, as now recommended by the American College, would maximise knowledge of genetic risk for couples. When testing genes, some identified variations are definitely harmful while most are definitely harmless. But for some variations we cant be sure if they are harmful, and whether or not they will cause disease in any children. And some mutations, called de novo mutations, arise spontaneously during the development of a child. These mutations cannot be detected by pre-pregnancy screening. So while the risk of having an affected child is reduced by pre-pregnancy carrier screening, it is not eliminated. There are no guarantees that pre-pregnancy screening will result in a healthy baby, but it will allow couples options to reduce the burden of disease associated with known disease-causing mutations. Counselling is required before and after the test to explain the risks to couples. There is little health risk from the test, no more than the risk associated with taking a blood sample. The cost may be prohibitive for many couples, though. While it depends on the number of genes screened, costs may be several hundred dollars per person. A small number of targeted pre-pregnancy carrier screening programs have been in place in Australia for a number of years including for Ashkenazi populations, for individuals with a family history of various diseases, and in IVF clinics. In Victoria the Victorian Clinical Genetics Service offers private pre-pregnancy carrier screening. Several Australian groups, such as the Australian Genomics Health Alliance, are researching ways to screen larger numbers of genes. It remains to be seen if Australian bodies will make similar recommendations to those in the US.

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