FCS Spotlight: Meet Dr. Katy Phelan, Genetics Lab Director
Dr. Phelan identified the chromosome variant now known as Phelan-McDermid Syndrome
As a young geneticist, FCS Genetics Laboratory Director Katy Phelan, PhD, FACMG made a fascinating discovery. She took special interest in a newborn patient’s case noting the deletion of chromosome 22q13 and quickly came to the realization that no prior literature or studies existed. Curious, she began looking deeper into this rare syndrome and enlisted Dr. Heather McDermid to conduct a DNA study on the patient. Together they presented their case at the American Society of Human Genetics meeting in 1988, where they identified that the patient was missing a segment of the long arm of chromosome 22.
After following the patient for three years, Dr. Phelan and Dr. McDermid published a case study on Deletion 22q13, which caught the eye of several parents looking for answers on their own children who had similar diagnoses. Soon a small group of 23 families, connected by Dr. Phelan, were learning about this unique disorder that bound them together. This kick-started the bi-annual 22Q13 Deletion Family Support Group, which has transformed into an international conference hosting up to 600 families. In 2003, 22Q13 Deletion Syndrome officially adopted “Phelan-McDermid Syndrome” (PMS) as its moniker, an endearing name to the hundreds of families brought together by these two scientists who were dedicated to their cause.
Fast-forward to the present-day, there are nearly 3,000 recognized cases of Phelan-McDermid Syndrome world-wide thanks to Dr. Phelan, Dr. McDermid, and the increasing availability of genetic testing. The symptoms, although often difficult to identify physically, include low muscle tone, developmental delay, intellectual impairment, and a high percentage diagnosed with an Autism Spectrum Disorder.
Nowadays, Dr. Phelan is still making her mark in the world. She is incredibly active with the Phelan-McDermid Syndrome Foundation, working with families, serving as an advisor to physicians, and advocating for continuous research and awareness of PMS – including the annual “Phelan Lucky” t-shirt campaign. On most days, though, you can find her directing efforts in Florida Cancer Specialists’ genetics lab. Each week, as many as 250 genetic test results are processed in the in-house lab – tests that provide answers patients are longing to hear that will determine the course of their treatment. And while genetic test results can often take up to 10 days to process, her goal is to complete them in six, even if it means putting in extra hours on a Saturday to prevent a patient from having to wait over a weekend. “I have always been driven to take care of people and give them hope,” remarked Dr. Phelan. And to that, we would have to say that our patients are lucky to have her looking over their care, too.