The team behind the Deciphering Developmental Disorders (DDD) Study, one of the world's largest nationwide rare disease genome-wide sequencing initiatives, have developed a novel computational approach to identify genetic ...
Oct 5, 2015
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The first results to emerge from a nationwide project to study the genetic causes of rare developmental disorders have revealed 12 causative genes that have never been identified before. The Deciphering Developmental Disorders ...
Dec 24, 2014
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The first nationwide project to genetically diagnose rare diseases will pave the way for translating advances in genomics into patient care in the NHS. Deciphering Developmental Disorders (DDD), a collaboration between the ...
Dec 16, 2014
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A small freshwater fish found in many tropical aquariums may hold the key to unlocking one of the leading causes of respiratory diseases in humans.
Sep 15, 2014
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A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal ...
Aug 28, 2014
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Although it is rare, tuberous sclerosis complex (TSC) can be a difficult and frightening diagnosis for parents and children. The genetic disorder causes nonmalignant tumors to form in many different organs, including the ...
Jul 10, 2014
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Folic acid deficiency can cause severe health problems in offspring, including spina bifida, heart defects and placental abnormalities. A study out today reveals that a mutation in a gene necessary for the metabolism of folic ...
Sep 26, 2013
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Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic ...
Sep 18, 2013
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Reproductive genetics researchers at Columbia University Medical Center (CUMC) are leading a multicenter prospective clinical study investigating the effects of chromosomal abnormalities (duplicative or missing material) ...
Aug 21, 2013
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Sleep research typically involves recording electroencephalography (EEG) and electromyography (EMG) signals of brain activity over long periods of time, then painstakingly analyzing these records in a process called sleep ...
Aug 2, 2013
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