NGLY1 deficiency Archives - Baylor College of Medicine Blog Network

Family helps advance research into rare disease

July 16, 2014 Dr. Hamed Jafar-Neiad, Dr. Huda Zoghbi, Dr. Matthew Bainbridge, Genetics, Genome Sequencing, Healthcare, Human Genome Sequencing Center, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, molecular and human genetics, NGLY1 deficiency, pediatrics, Research

Baylor College of Medicine’s genetics program continues to break barriers in diagnosing rare diseases through the use of advanced genome testing. Often the diagnosis is