JENNA PUCEL
Genetic Counselor / Research Coordinator
I received my M.S. in Genetic Counseling from the MGH Institute of Health Professions and my B.S. in Cell and Molecular Biology from Tulane University. During graduate training, I provided genetic counseling for patients in different clinical contexts including cancer, prenatal, and pediatrics. My master’s capstone project focused on evaluating the diagnostic yield of exome and genome sequencing in patients enrolled in the NIH Undiagnosed Diseases Network, sparking a lasting interest in rare disease genetics and complex diagnostic cases. I am especially passionate about advocating for patients with rare diseases and improving access to appropriate genetic testing.
In the Chakravarti Lab, I study the complex genetic architecture of Hirschsprung disease, with a focus on phenotypic variability and genotype–phenotype correlations, with the broader goal of improving diagnosis, genetic counseling, and care for individuals with multifactorial conditions.
Interests: Running, yoga, redwood trees, attempting my own latte art, and discovering New York City restaurants and bakeries :)
