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

A striking number of genetic changes can occur early in human development

A striking number of genetic changes can occur early in human development

Dr. Pengfei Liu has a challenging job.  As the assistant laboratory director of Baylor Genetics and assistant professor of molecular and human genetics at Baylor College of Medicine, he is part of a team of researchers that evaluates young patients with a variety of developmental issues in order to determine the posibility of a genetic diagnosis of their condition. … Continue reading

A single species of gut bacteria can reverse autism-related social behavior in mice

A single species of gut bacteria can reverse autism-related social behavior in mice

The absence of one specific species of gut bacteria causes social deficits in mice. Researchers at Baylor College of Medicine report June 16 in Cell that by adding this bacterial species back to the guts of affected mice, the researchers were able to reverse some of the mice’s behavioral deficits, which are reminiscent of symptoms … Continue reading