We are initiating a mandatory genetic screening program to screen couples before marriage and their newborns for SMA. Minister of health fahrettin koca ANKARA Turkey announced on Thursday that screening for Spinal Muscular Atrophy (SMA) disease will be required prior to marriage in the country by the end of the month. “We are implementing the…
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Knowing a baby’s whole genetic code would help detect a range of health problems, but would not replace need for some existing tests What is the current newborn screening? All babies in the UK are offered the “heel prick” or blood spot test at around five days old to screen for nine serious health conditions, including cystic…
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As part of the [£5 billion pound] package, Genomics England will receive funding to support new initiatives, such as ‘Generation Genome,’ a national pilot of 100,000 newborns to use genome sequencing to detect rare diseases. The new technology will enable doctors to detect over 200 conditions compared to existing tests which can just identify nine…
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“If you go to a scientific meeting, even with the greatest critics, and you ask, how many people in this audience believe that your entire genome will be part of your everyday medical care in fifty years, every person will raise their hand. So the only questions we’re debating are: how do we get there,…
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Rapid Genetic Testing May Have Spared This Baby From Death — Whole-genome sequencing delivered diagnosis in record 13 hours; treated with thiamine For an infant with seizures, every passing hour risks more harm to the newborn’s brain. That’s why this story from Rady Children’s Hospital in San Diego is so inspiring, not just for parents…
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Radcliffe researcher explores genetic testing in newborns that could help them escape severe health consequences. A few months ago, Lisa Diller saw a family for a consultation in her cancer clinic. Their story is one of tragedy, and of hope. The mother had an eye removed out of medical necessity at the age of 2, but knew…
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As genomic sequencing becomes increasingly common in the clinic, questions linger about its use and role in newborn medicine. Can sequencing provide actual actionable insights? How common is it to find something important to a child’s future health? What are the benefits and other consequences of such findings for families? The BabySeq Project, a joint effort…
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NEW YORK (GenomeWeb News) — Four research teams across the US have been awarded a total of $5 million in fiscal year 2013 under a new Genomic Sequencing and Newborn Screening Disorders program jointly funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Human Genome Research Institute.…
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