Michele Spencer-Manzon, MD, is a clinical geneticist who specializes in treating people of all ages, infancy through adulthood, who have inherited cardiovascular diseases and other genetic disorders. She spends a lot of time studying and treating newborn babies whose bodies are unable to process food into energy on a cell level—a condition called “inborn errors of metabolism.” Specifically, Dr. Spencer-Manzon is a board-certified biochemical geneticist, a rare sub-specialty within the field.
Explains Dr. Spencer-Manzon: “The kind of work we [clinical geneticists] do is some of the hardest in the hospital. That’s because we share information with patients and parents about genetic results, but we can’t fix genes yet.” She says that each patient and family is unique in how they receive genetic testing results; some are relieved to get information, while others find it very difficult. “In conversations with patients, I encourage them to share their feelings if they want to. I give them my cell phone and offer to answer any follow-up questions they might have,” Dr. Spencer-Manzon says.
As a clinical geneticist for the Pediatric Genomics Discovery Program, Dr. Spencer-Manzon works with a team of specialists to determine possible genetic causes for babies born with rare diseases. The ability to detect a genetic disorder in a newborn or infant is “the most rewarding part of my job,” she says. A recent memorable and moving example is that she was able to diagnose a three-day-old infant with citrullinemia, a recessive urea cycle disorder. Dr. Spencer-Manzon was then able to help this tiny boy’s care team arrange for a life-saving liver transplant.
Dr. Spencer-Manzon is also an assistant professor of genetics and pediatrics at Yale School of Medicine.
Yale Medicine, Yale New Haven Children’s Hospital