Jennifer Cohen, MD, assistant professor of pediatrics in the Division of Medical Genetics, recently received the John M. Opitz Young Investigator Award from John Wiley & Sons, Inc. The award was established in honor of Dr. John Opitz and his long-standing commitment to educating young scientists and his dedication as founding editor-in-chief of the American Journal of Medical Genetics (AJMG). An internationally respected physician and researcher, Opitz is one of the first physicians to recognize and correlate specific groupings of pediatric anomalies with heredity.
The award was granted based on Cohen’s 2019 publication in the American Journal of Medical Genetics Part A, Diagnosis and Management of the Phenotypic Spectrum of Twins with Beckwith-Wiedemann Syndrome. Monozygotic twins with Beckwith-Wiedemann syndrome (BWS) are often discordant for clinical features, leaving families and clinicians with the challenge of diagnosing and managing these twins. Using her observations from clinical data that she analyzed from a large cohort of twin gestations affected by BWS, Cohen proposed both embryologic hypotheses to explain the phenomena she and prior authors had observed, and furthermore, proposed an algorithm for how to appropriately diagnose and clinically manage these twins, starting in the perinatal period. This work has provided both families and clinicians with new guidance and explanations to help navigate the previous challenges faced in this patient population.
Cohen will be formally announced as the winner of the award at the upcoming 2020 David W. Smith Virtual Workshop in September. Congratulations on this well-deserved honor!