Professor Dr. Michele Spencer Manzon

Biography

Michele Spencer-Manzon, MD, is an associate professor of genetics and pediatrics at Yale School of Medicine. As a clinical geneticist, she specializes in treating individuals from infancy to adulthood with inherited cardiovascular diseases and genetic disorders. She is particularly focused on inborn errors of metabolism, a condition where the body is unable to process food into energy at the cellular level. Sufficient care and communication with patients and their families regarding genetic testing results is a significant aspect of her practice. Working within the Pediatric Genomics Discovery Program, Dr. Spencer-Manzon collaborates with a team to identify genetic causes of rare diseases in newborns. A memorable case involved diagnosing a three-day-old infant with citrullinemia, leading to a life-saving liver transplant. Dr. Spencer-Manzon's commitment to the field is evident through her continuous collaboration and contribution to advancing genetic research and patient care.

Research Interests