Human geneticists have long debated whether the genetic risk of the most common medical conditions derive from many rare mutations, each conferring a high degree of risk in different people, or common differences throughout ...
Mar 25, 2012
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A study published in Nature Genetics today has found new evidence for a link between the body clock hormone melatonin and type 2 diabetes. The study found that people who carry rare genetic mutations in the receptor for melatonin ...
Jan 29, 2012
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(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
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In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, ...
Feb 19, 2024
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An innovative gene therapy may help treat a severe and fatal developmental epilepsy syndrome that affects children. Researchers hope that this genetic therapy can also be adapted to other types of genetic epilepsies and think ...
Jun 22, 2023
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15 years ago, a woman in her thirties was diagnosed with metastatic kidney cancer. The oncologist José Pablo Maroto, from the Hospital de la Santa Creu i Sant Pau, in Barcelona, decided to treat her with the drug temsirolimus, ...
Jun 14, 2023
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The Department of Neurology at Niigata University has developed a new in silico method for evaluating the pathogenicity of missense variants using AlphaFold2 (MOVA).
Jun 14, 2023
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The research group led by Dr. Chengzhu Zhao (now Associate Professor in Chongqing Medical University) and Associate Professor Makoto Ikeya has discovered that ectopic bones formed in abnormal locations originate from neural ...
Jun 13, 2023
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A genetic mutation in the SPTSSA gene is identified as the cause of hereditary spastic paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study published ...
Jan 31, 2023
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Scientists at the National Eye Institute (NEI) have developed a zebrafish model of NEDBEH—a rare genetic disorder that can cause coloboma, where parts of the eye are missing due to developmental defects. The model provides ...
Jan 12, 2023
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