An international effort led by physician-scientists at Rady Children's Institute for Genomic Medicine (RCIGM), in collaboration with a team at the Montreal Children's Hospital of the McGill University Health Centre (MCH-MUHC), ...
Feb 25, 2019
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A research group headed by Professor Outi Mäkitie, University of Helsinki, identified in families with childhood-onset osteoporosis disease-causing mutations in a gene that had previously not been connected with the skeletal ...
Feb 25, 2019
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Scientists from the University of Bath have shown that the zebrafish is a useful model to study a molecule called Rnasel-1, a counterpart to human Angiogenin, a molecule linked to the neurodegenerative disease ALS (Amyotrophic ...
Feb 6, 2019
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An international team of researchers has identified a gene responsible for the onset of pigmentary glaucoma, which may lead to new therapies for the condition.
Jan 31, 2019
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(HealthDay)—HFE p.C282Y homozygosity, the most common gene mutation causing hereditary hemochromatosis (type 1), is associated with other morbidity in men and women, according to a study published online Jan. 16 in The ...
Jan 17, 2019
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The most common genetic disorder in people from northern Europe is associated with substantially higher levels of disease than previously thought, despite being easy to detect and treat, finds a study published in The BMJ ...
Jan 16, 2019
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UCLA researchers led by Dr. Donald Kohn have created a method for modifying blood stem cells to reverse the genetic mutation that causes a life-threatening autoimmune syndrome called IPEX. The gene therapy, which was tested ...
Jan 11, 2019
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Researchers from the University of Barcelona have shown that defective versions of human brain cells called astrocytes are linked to the buildup of a toxic protein that is the hallmark of Parkinson's disease. The studied ...
Jan 10, 2019
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In 2015, then President Barack Obama launched a precision medicine initiative, saying that its promise was "delivering the right treatments, at the right time, every time to the right person." A biomedical engineer at Washington ...
Dec 19, 2018
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There are only 25 people in the whole of Quebec at the moment who have a rare recessive genetic disease called chronic atrial and intestinal dysrhythmia (CAID). It is a serious disease that affects both heart rate and intestinal ...
Dec 6, 2018
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