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/PRNewswire/ -- The ACMG Foundation for Genetic and Genomic Medicine (ACMGF) announced today that Marilyn C. Jones, MD, FACMG; Harry Ostrer, MD, FACMG; Lisa G....
Daniel Geschwind will discuss what genes have taught us about complex brain disorders during his Faculty Research Lecture.
<p>In a study that spans more than a decade, researchers at Baylor College of Medicine have looked at generations of families in a specific population to reveal the role newly inherited DNA variants play on recessive disease traits, and in the process, they have created a population specific database revealing unique DNA information unseen in larger cohorts.</p>
Researchers from the University of Helsinki and HUS Helsinki University Hospital have achieved a significant medical breakthrough by successfully correcting a genetic defect that causes a hereditary metabolic disease, thus mitigating its harmful effects on cells. This landmark research focused on Argininosuccinic Aciduria (ASA-uria), a severe metabolic disorder prevalent in the Finnish gene pool, where the body fails to process proteins properly, leading to dangerous accumulations of ASA and ammonia. Excessive ammonia can cause disturbances in consciousness, coma, and even death.
Tributes have been left to a woman with links to Banbury who was found dead at an Oxford beauty spot in Headington earlier this year.