Lamivudine, a commonly-used antiretroviral drug for treating HIV, improves cognition in a mouse model of Down syndrome, according to the findings of a joint new study by researchers at the Centre for Genomic Regulation (CRG) and the IrsiCaixa AIDS Research Institute, a centre jointly promoted by the “la Caixa” Foundation and the Department of Health of the Generalitat de Catalunya. The research is published today in the Journal of Cellular and Molecular Medicine.
Human populations have waxed and waned over the millennia, with some cultures exploding and migrating to new areas or new continents, others dropping to such low numbers that their genetic diversity plummeted.
A large genetic study by the U.S. Department of Veteran Affairs’ Million Veteran Program (MVP)) has found that a person’s height may affect their risk for several common health conditions in adulthood.
Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections.
The National Organization for Rare Disorders (NORD) has designated the Division of Medical Genetics and Genomics at The Mount Sinai Hospital as a Rare Disease Center of Excellence.
Clinical Fellow KONDO Atsushi and Professor NOZU Kandai et al. of Kobe University’s Graduate School of Medicine have estimated the prevalence of Gitelman syndrome across different ethnicities using a genome database.
New findings show that some patients with a rare and aggressive form of leukodystrophy may benefit from receiving treatment with a class of targeted therapy drugs that could improve their neurological function.
Researchers report in Science Advances that the lipid-based nanoparticles they have engineered, carrying two sets of protein-making instructions, showed in animal studies that they have the potential to function as therapies for two genetic disorders.
UCLA scientists have developed a method for restoring oxygen-consumption activity to previously frozen mitochondria samples. By speeding up research, investigators hope to accelerate the diagnosis of people living with mitochondrial diseases and secondary disorders in which mitochondria play a key role, including diseases related to aging, metabolism and the heart.
New research is shedding light on the biological architecture that lets us hear – and on a genetic disorder that causes both deafness and blindness.