clinical research

Sugar Molecule Could Resolve Rare Diseases

IRP Research Hastens Development of First Treatment for Genetic Muscle Condition

cartoon highlighting one person in a crowd

An old medical adage warns doctors that when they hear hoofbeats, they should first think of horses, not zebras. After all, when someone comes into the hospital with a cough, the most likely explanation is something mundane like the flu. However, some patients truly are medical zebras, affected by a disease that afflicts very few others.

IRP senior investigator Marjan Huizing, Ph.D., has learned quite a bit about those zebras since arriving at the National Human Genome Research Institute (NHGRI) as a postdoctoral fellow in 1998. To help commemorate Rare Disease Day today, Dr. Huizing spoke with the “I Am Intramural” blog about her research on an array of ailments linked to a small sugar molecule called sialic acid, some of which are extremely rare.

Postdoc Profile: From Bench to Bedside and Back Again

Dr. Stefan Barisic Turns Laboratory Discoveries into Kidney Cancer Treatments

Dr. Stefan Barisic

The Laboratory of Transplantation Immunotherapy sits at the heart of the NIH Clinical Center, just down the hallway from the Southeast inpatient unit. Here, IRP postdoctoral research fellow Stefan Barisic, M.D., labors at the bench with the goal of creating practical treatments for kidney cancer patients. Having such proximity to his patients was one of the chief attractions of working at NIH for Dr. Barisic.

“The NIH Clinical Center is an amazing place because it has all the resources you need to go from the bench to the bedside and back to the bench all in one building,” says Dr. Barisic.