Tag: rare diseases

Blog

Successful treatment of a rare genetic disorder in the womb

For the first time, an inherited disorder has been reversed in babies before birth. “There are a number of conditions for which we would seek treatment in utero, but traditionally these have been non-genetic, non-inherited conditions,” Dr. Maisa Feghali, an assistant professor of maternal fetal medicine at the University of Pittsburgh, who was not involved in this study, told STAT. The disease, X-linked hypohidrotic ectodermal … Continue reading Successful treatment of a rare genetic disorder in the womb

3 Comments
Blog, Opinion

Risky Business: The far-reaching consequences of slashing the orphan drug tax credit

by Christopher Gerry The routes that lead to a career in biomedicine are as diverse as they are plentiful, but one of my colleagues has taken a particularly unorthodox path. Sonia had just graduated from law school when she learned of a “typo” in her genetic code that will almost certainly induce a fatal and untreatable brain disorder called prion disease. She and her husband, … Continue reading Risky Business: The far-reaching consequences of slashing the orphan drug tax credit

1 Comment