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

From mouse model to human; serendipity leads to human genetic diagnosis

From mouse model to human; serendipity leads to human genetic diagnosis

When Dr. Huda Zoghbi and her colleagues were investigating the role protein complex ATXN1-CIC plays in the normal development of the mouse brain they did not expect their work would lead to finding a genetic cause of an undiagnosed human condition. “When we began this research, we were just curious about what the ATXN1-CIC complex normally does,” … Continue reading