Consider for a moment that your life is dominated by spontaneous nosebleeds, chronic stomach hemorrhaging, persistent anemia and a complex constellation of other manifestations, some potentially life-threatening.
Genetic researchers at Nagoya University, Japan, have delved into the genetic underpinning of a rare skin condition affecting children that is unusually common in Japan.
Rett syndrome, a rare genetic disorder that causes mental retardation, autism, and physical deformities, has no cure. However, a small clinical trial has found that a growth factor known as IGF1 can help treat some symptoms ...
Jun 23, 2014
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Researchers from the Germans Trias i Pujol Research Institute (IGTP) have made progress in exploring potential treatments for skin tumors associated with neurofibromatosis type 1. Their findings in cell models have been published ...
Feb 13, 2024
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An investigational drug, encaleret, restored calcium levels in people with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic disorder marked by an imbalance of calcium in the blood and urine, as well as abnormally ...
Oct 13, 2023
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Researchers from the University of Tokyo reveal how the presynaptic Ube3a E3 ligase, a causal factor in Angelman syndrome, eliminates neural chatter. The study helps find a better drug target for the Angelman syndrome treatment.
Sep 14, 2023
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A gene variant found almost exclusively in the genomes of people of African ancestry increases the risk of developing Parkinson's disease, according to an international study of nearly 198,000 participants with this genetic ...
Aug 24, 2023
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A treatment for a rare cancer-like lung disease found in women of childbearing age may have been discovered by University of Cincinnati researchers.
Jun 15, 2023
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Britain's fertility regulator on Wednesday confirmed the births of the U.K.'s first babies created using an experimental technique combining DNA from three people, an effort to prevent the children from inheriting rare genetic ...
May 10, 2023
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Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...
Feb 6, 2023
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