NATURE COMMUNICATIONS MEDICINE: Stephen Kingsmore talks about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future.
Ten hospitals in the Sanford Children's Genomic Medicine Consortium are participating in genome sequencing research of patients who have primary immune deficiency diseases (PIDD) or primary immune regulatory disorders (PIRD).
Babies with Fitz's condition, commonly known as "bubble boy disease," rarely survive to toddlerhood. He became one of the first babies anywhere to get a specific diagnosis within days of birth and an experimental therapy several months later that appears to have worked.
While companies and investors have learned how to profit handsomely from rare diseases, they are still a healthcare desert to most people who suffer from them.
Describing a previously unknown genetic condition that affects children, researchers at University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine say they also found a potential method to prevent the gene mutation by administering a drug during pregnancy.