Of mice, men and proteasomes; OTUD6B variant causes intellectual and physical disability

Of mice, men and proteasomes; OTUD6B variant causes intellectual and physical disability

One of Dr. Magdalena Walkiewicz’s patients had not received a genetic diagnosis for his condition that included a number of intellectual and physical disabilities. After following the appropriate protocols, Walkiewicz, an assistant professor of molecular and human genetics at Baylor College of Medicine and assistant laboratory director at Baylor Genetics, ordered whole exome sequencing analysis. … Continue reading

Collaboration matters when looking for answers to undiagnosed diseases

Collaboration matters when looking for answers to undiagnosed diseases

It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to search through haystacks of genetic data, but advances in gene sequencing technologies and in computerized strategies to search genomic data sets with vast amounts of information have made the job … Continue reading

Discovery of the new hormone asprosin could have potential implications in treatment of diabetes

Discovery of the new hormone asprosin could have potential implications in treatment of diabetes

By Dipali Pathak When Dr. Atul Chopra began studying a rare genetic condition called neonatal progeroid syndrome (NPS) he did not suspect that his discoveries could potentially affect the lives of millions of people living with a different condition, type 2 diabetes. The findings appear in the journal Cell. NPS keeps the body from accumulating fat, … Continue reading