Providing state-of–the-art, individualized clinical support to children and families undertaking genetic and genomic testing. Offering interpretative and educational support to clinicians pursuing this testing for their patients.
Genetic counselor Sarah Raible works with families affected by rare diseases to explain complicated results of research testing and share novel discoveries.
Scientific minds are imagining. Sophisticated machines are harnessing genetic data. An invisible universe of microbes is revealing new insights into disease. Discoveries are changing children’s worlds. Every second of every day is filled with wonder at The Children’s Hospital of Philadelphia Research Institute.
CHOP medical geneticist and researcher Ian Krantz, MD, has been a tireless detective in his efforts to find out what genetic syndrome could be behind Leta’s constellation of symptoms.