Screening for spinal muscular atrophy, the leading genetic cause of infant death, can save lives

November 30, 2020 9:37 am Comments Off on Screening for spinal muscular atrophy, the leading genetic cause of infant death, can save lives (access required)

Regina Philipps’ son, Shane, was born a happy, healthy and strong baby — holding his head up on his own, rolling, and pushing himself up on his arms. But at six months old, Regina noticed something might be wrong. “He started moving less, and some of the strength he had seemed to be disappearing,” said ...

Local clinic conducts ground-breaking research in rare genetic disorders

June 13, 2019 9:36 am Comments Off on Local clinic conducts ground-breaking research in rare genetic disorders (access required)

The Clinic for Special Children provides genetic counseling, molecular diagnostic testing and dietary support to treat those with rare, recessive disorders.