Park Alumnus Co-Authors Study Identifying Cause of Rare Disease


Researchers at Kennedy Krieger Institute announced this month that they have pinpointed the genetic mutation that causes Sturge-Weber syndrome (SWS), a rare disorder associated with birthmarks on the face, glaucoma, and seizures.  Jonathan Pevsner, Ph.D. ’79, Director of Bioinformatics at Kennedy Krieger Institute co-authored the study. According to the announcement from the Kennedy Krieger Institute:

Dr. Pevsner’s laboratory found the somatic mutation (a change in DNA that occurs after conception and affects only part of the body) that causes SWS and port-wine birthmarks by performing whole genome sequencing on affected and unaffected tissue and blood samples from three individuals with SWS. 

Further testing confirmed the findings of Dr. Pevsner’s lab. These findings could lead to new treatments and potentially, a cure for SWS in the coming years. 

Read the announcement from the Kennedy Krieger Institute.

Read more about the discovery from The Baltimore Sun.

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