Mutations may yield clues to heartbreaking childhood disease

Pamela K. Douglas, a Johns Hopkins University senior, has spent months analyzing DNA from children suffering from a rare but devastating disease. An undergraduate research grant has allowed her to do important lab work for a team that is trying to understand and produce a treatment for the disease, which kills more than half of its victims before their second birthday.

Douglas, a 22-year-old biomedical engineering major from Winter Park, Fla., has been working in the lab of Nancy Braverman, a pediatric geneticist in the Johns Hopkins School of Medicine. Bravermans team has been studying children affected by Rhizomelic Chondrodysplasia Punctata, or RCDP. Children with RCDP commonly suffer from cataracts, shortened arms and legs, and mental retardation.

Braverman identified the defective gene, known as PEX7, which causes this disorder. To learn even more about the cellular processes that go haywire when RCDP occurs, Douglas has been helping Braverman find the specific PEX7 mutations in skin and blood cells collected from 75 patients with the disease.

Characterizing these changes in the PEX7 gene helps us to understand both the normal biological function of the protein and how disruptions in it can result in different severities of disease, Braverman said.

Braverman often visits with RCDP patients and their families, and on occasion, Douglas has accompanied her. Ive seen children with this horrible disease, and its so sad, the undergraduate said. Dr. Bravermans team is building a thorough understanding of this protein and its interactions. We have to do that before we can come up with a possible treatment.

Douglas met Braverman two years ago when the undergraduate began looking for work in a Johns Hopkins research lab. She looked at my resume and hired me practically on the spot, Douglas recalled. I had a superficial understanding of genetics, but she taught me a lot more about it, especially the experimental procedures. It was

Contact: Phil Sneiderman
Johns Hopkins University

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