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ESHG: Parental Mosaicism Raises Recurrence Risk in Families With Presumed De Novo Variant Disorders
GenomeWeb News· 6 hours agoFamilies with a child diagnosed with a rare genetic disorder presumed to stem from a de novo variant might have a higher-than-expected ...
Scientists identify gene linked to developmental disorders - UPI.com
UPI· 1 day agoRNU4-2 -- can cause a collection of developmental symptoms that had not previously been tied to a...
BridgeBio Stock Gives Up Gains On Comparisons To BioMarin Drug
Investor's Business Daily· 12 minutes agoBridgeBio reversed premarket gains and tumbled Tuesday after the drugmaker's growth disorder...
Genetic changes identified as key to childhood lupus
Medical Xpress· 24 hours agoIn people with lupus the body's immune system mistakenly attacks its own cells and tissues. Until now, its exact cause has been unknown, but it was thought to be a combination of genetic ...
New genetic cause of intellectual disability potentially uncovered in 'junk DNA'
LiveScience· 4 days agoScientists have uncovered a rare genetic cause of intellectual disability in a historically...
Genetic disorder likely causes many unexplained cases of intellectual disability, scientists find
NBC Universal via AOL· 4 days ago“It helps them come to terms with the impact,” he said. “Being able to tell someone, ‘Yes, we have...
Gene therapy offers huge potential for combating disease, doctors say
United Press International via Yahoo News· 4 days agoResearchers are engineering ways to alter genes or swap flawed ones with healthy replacements,...
Intellectual disability disorder may be linked to a single, 'surprising' gene, research shows
Fox News· 1 day agoScientists have identified the genetic basis of a disorder causing intellectual disability,...
What is auto-brewery syndrome and how it happens
CBC via Yahoo News· 2 hours agoA 50-year-old woman would suddenly fall asleep multiple times while getting ready for work, slurring her speech and falling.She went to emergency...
Her gut was producing alcohol. Doctors didn’t believe her. | CNN
CNN.com· 2 days ago“She visited her family doctor again and again and went to the emergency room seven times over two...