A Brunel University London professor has joined the illustrious pantheon of Hans Asperger and John Langdon Down by having a syndrome named after her.
Sep 28, 2021
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The cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study has found.
Aug 26, 2021
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A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. The study, led by researchers at The Ohio State University ...
Jul 12, 2021
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Cytosolic peptide:N-glycanase (NGLY1) is a widely conserved enzyme involved in de–N-glycosylation of N-glycosylated proteins. Mutations in the human NGLY1 gene cause global developmental delay and multisystemic symptoms, ...
Jul 6, 2021
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The neocortex is a layered structure of the brain in which neurons are arranged parallel to each other. This organization is critical for healthy brain function. A team of researchers from Charité - Universitätsmedizin ...
Jul 6, 2021
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CHARGE syndrome is a rare genetic disorder affecting about 1 in 10,000 newborns. It can lead to neurological and behavioral disorders for which no treatment is currently available. Dr. Kessen Patten and his team from the ...
Apr 28, 2021
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Mice with symptoms that mimic Bardet-Biedl Syndrome (BBS) have difficulty with learning and generating new neurons in the hippocampus. However, according to a new study by Thomas Pak, Calvin Carter, and Val Sheffield of the ...
Apr 22, 2021
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Researchers from Children's Hospital of Philadelphia (CHOP) have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder. Additionally, the ...
Mar 23, 2021
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Until recently, scientists believed that the primary cilium—an antenna-like structure found on the surface of most human cells—was largely vestigial and had little bearing on the day-to-day lives of human beings. But ...
Feb 25, 2021
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In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to ...
Jan 27, 2021
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