Paula Goldenberg, MD, MSW, MScE, is the director of the New England Regional Center for Chromosome 22, the Stickler/Marshall Syndrome Clinic and the Prenatal Genetics Program at Mass General for Children and Massachusetts General Hospital. An unexpected diagnosis when her son was born inspired her to pursue a career in medical genetics.

What do you like most about your job?
In the field of clinical medical genetics, we have the perfect balance of the art and science of medicine. I get to combine time-honored skills of physical examination for clues for diagnosis with high technology and communication and counseling with patients and families. At the same time, the science of genetics is advancing rapidly. Every time I go to a department meeting, there are new methods of understanding the human genome being discovered. Our job is to bring these advances to patient care, from bench to bedside as it were. I learn something new every day!

What is special about Mass General for Children?
Mass General for Children (MGfC) is a world leader in advanced health care, research and medical education. Our patients in Genetics benefit from our teaming with pediatric and adult care specialists who provide first-class intervention for their various medical problems. MGfC and Massachusetts General Hospital serve patients of all ages, which we in genetics especially appreciate because we care for patients throughout their lifespan.

Describe your journey into health care.
I have had a rather unique journey into medical genetics. In the late 1990s I was a psychiatric social worker doing mental health and crisis work with children and families in Oregon. I had a son who was ultimately diagnosed with a genetic syndrome called DiGeorge syndrome, which is also called 22q11.2 deletion syndrome. In a sense, I was an early internet mother searching for answers about my child. I decided to apply to medical school at Oregon Health and Science University to help other children and families in their search for understanding.

After medical school, I trained in Pediatrics and Medical Genetics at Duke University School of Medicine. I have started three different clinics for patients with 22q11.2 deletion syndrome at Duke, Cincinnati Children’s Hospital, and now at MGfC and Mass General. We have a Facebook page and Twitter feed for our clinic, which is very popular in the 22q11.2 community worldwide.