Priya Kishnani, MD, HS'91-'95

by Marty Fisher

Helping to cure a rare childhood
genetic disease was not part of
Priya Kishnani’s plan for her medical
career. In fact, she never planned to leave Bombay, India, where she was born and received her medical degree.

“I had everything going for me in India,” says Kishnani, MD, HS’91-‘95. “In fact, I was sure I was never coming to the U.S.”

The desire to learn more about childhood leukemia, cancer, and hematology led Kishnani to the Children’s Hospital of Philadelphia (CHOP) as an observer in hematology/oncology.

At CHOP she found an incredibly supportive mentor in oncology chief Anna T. Meadows, MD. She also met the man who later became her husband.

Kishnani thought she might stay in the states awhile. While CHOP didn’t have an
opening in its pediatric residency program, Meadows contacted a friend at Duke—pediatric hematologist/oncologist Tom Kinney, T’66, MD’70, and arranged for Kishnani to do a one-year pediatric residency here.

Kishnani hoped to return to CHOP for a fellowship in pediatric hematology/oncology.
She changed her mind when she took an elective in Duke’s Division of Pediatric
Medical Genetics.

“I absolutely loved it,” she says. At that time, “there were rumblings of breakthroughs coming in. I had the opportunity to train with three of the finest biochemical geneticists in the country—Y.T. Chen (MD, PhD, HS’78-’80), Steve Kahler (MD’73, A’87), and Charlie Roe, (T’59, MD’64).”

This fall, Kishnani and her Duke colleagues celebrated with more than 80 patients and their families the approval of Myozyme, the first treatment for Pompe.

Kishnani did a clinical fellowship followed by two years in the laboratory as a genetics research fellow, building a foundation of knowledge about the role of genetics in pediatric metabolic and other diseases.

She watched from a distance as families from all over the world brought their babies with rare genetic conditions to Duke. Many of the babies were born with Pompe disease, a devastating condition in which the body lacks the ability to break down glycogen and convert it into energy.

Because of a treatment for Pompe developed and tested at Duke by Chen, she knew this was uncharted territory—if the babies survived they would represent the oldest Pompe survivors ever, changing the natural history of the disease.

“I watched the whole trial and error process, attempting to make the enzyme from
urine and then human placentas, then the first successful experiments with quail who had Pompe disease, and I knew my role was going to begin soon,” says Kishnani.

This fall, Kishnani and her Duke colleagues celebrated with more than 80 patients and their families the approval of Myozyme, the first treatment for Pompe, developed by the Division of Medical Genetics in collaboration with Genzyme
Corporation. The treatment was 15 years in the making.

In addition to her work on the Duke Pompe team, Kishnani herself successfully
cloned the gene for the animal model of another genetic metabolic disease, glycogen storage disease type one.

Kishnani also is the first to attempt treatment interventions to improve cognition in
Down syndrome babies. Using the knowledge that brain changes in Alzheimer’s and
Down syndrome are very similar, she collaborated with Duke Psychiatry and Behavioral Sciences Chair Ranga R. Krishnan, MD, HS’81-’84, to conduct the first clinical trail of cholinesterase inhibitors (FDA-approved drugs for Alzheimer’s) in young adults and now children.

Kishnani lives in Durham with her husband, Sunil, a software engineer at SAS, and
their two children, Kunal, 13, and Sujata, 9. She has always included her family in
reunions with her patients and their families and says her daughter Sujata “wants to do this work, but do it better than me!”