Dr. Margretta Seashore

Biography

Margretta Seashore serves as Professor Emeritus at the Yale School of Medicine, specializing in Genetics. With an extensive background in the field, she has contributed significantly to the understanding of inherited disorders and their clinical implications. Her research interests particularly focus on inborn errors of metabolism, single gene disorders, and the genetic components of various conditions. She plays a pivotal role in supporting collaborative efforts among specialists to enhance care for individuals affected by metabolic disorders, particularly in the development of diagnostic strategies for newborn screening. Seashore has been involved in multiple clinical trials investigating new treatments for conditions such as phenylketonuria (PKU) and has been a part of initiatives that aim to track and improve clinical outcomes for patients with urea cycle disorders. Her career includes several prestigious educational positions and a commitment to advancing genetic counseling and pediatric genetics. She is passionate about the application of genetic research in clinical settings and continues to be active in relevant studies. Seashore is a certified medical geneticist and has made notable contributions to advancing knowledge in her field through research and clinical practice.

Research Interests

Experience