Dr. Jennifer L. Cohen

I was drawn to the field of medical genetics because of the opportunity it afforded to closely follow patients and families over time and collaborate with families from the perspective of research, in order to answer questions regarding the health concerns of their children. I am eager to push the field forward toward more numerous and effective treatments within the rare disease realm. Throughout my combined pediatrics and medical genetics residency training, I developed a particular clinical and research interest in working toward earlier diagnosis for children with rare disease in order to be able to more effectively treat them. My clinical areas of interest include Beckwith-Wiedemann syndrome (an epigenetic and genetic overgrowth disorder), genetic neuromuscular disorders (in particular those with cardiac involvement), and lysosomal storage disorders (such as Wolman disease and Pompe disease).

Dr. Cohen is rated as an Experienced provider by MediFind in the treatment of Hereditary Spastic Paraparesis. Her top area of expertise is Hereditary Spastic Paraparesis.