Unlocking the Secrets of our DNA

“My high school science teacher partnered with Yale University to give us a chance to work in real genetics labs,” says Christina Grant, MD, PhD. “I remember thinking, wow, this is awesome.”

That experience set Dr. Grant on her path to medical school. A clinical genetics rotation introduced her to a whole new world of discovery. Today she is a medical geneticist at the Children’s National Rare Disease Institute. Her research changes the lives of children and families.

One of Dr. Grant’s patients, Elly, was born without thumbs due to a congenital difference called bilateral thumb hypoplasia. Genetic testing helped rule out potentially related, life-threatening conditions. Dr. Grant also recommended Elly participate in a clinical trial at the Pediatric Mendelian Genomics Research Center to study her entire genome and have it recorded for future research.

Dr. Grant also is director of the Lysosomal Storage and Treatment Program at Children’s National. Lysosomal storage disorders are rare genetic conditions that cause a buildup of toxic materials in the body’s cells. She specializes in Pompe disease, which can cause muscle weakness and trouble breathing.

“We had one patient whose body rejected an FDA-approved drug for the disease. We enrolled her in a protocol at Children’s National that used chemotherapy to help her body accept the drug,” says Dr. Grant. “She was one of the first patients in the country to receive this protocol. Now she's surviving and able to ride her bike and go swimming. She can really be a kid!”

Dr. Grant says that’s the beauty of science — it’s always changing. “For instance, we asked Elly’s family to check in with us every few years because it’s possible that science has caught up to her condition, leading to new answers,” she says.

"Kids are resilient. It’s very rewarding to connect with these children and their families and watch them grow.”