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Mutations May Yield Clues To Heartbreaking Childhood Disease; Undergraduate Analyzes DNA To Probe Disorder That Causes Stunted Limbs, Retardation

Date:
March 7, 2002
Source:
Johns Hopkins University
Summary:
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.

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. Braverman’s 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. “I’ve seen children with this horrible disease, and it’s so sad,” the undergraduate said. “Dr. Braverman’s 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 intimidating at first, but Dr. Braverman is an excellent teacher and is very patient.”

Her undergraduate research grant allowed Douglas to remain in Baltimore last summer to continue working in Braverman’s lab. Douglas spent the time analyzing DNA sequence readouts from more than a dozen RCDP patients, looking for significant mutations. She also studied the case of a rare patient who exhibited four mutations, none of which appeared to come from her parents.

As a result of her work, Douglas is expected to be listed as one of the authors on an upcoming scientific paper based on the team’s findings. Meanwhile, Douglas has also taken on another challenge in a nearby biophysics lab, where she is building a computer model of PEX7 that demonstrates how these mutations can affect the shape of this protein.

The lab experiences have caused Douglas to shift gears in her academic plans and apply to master’s and doctoral programs in biomedical engineering. “This has really sparked my interest in going to grad school,” she said. “Working in a genetics lab has given me a focus. This has been a huge part of my Hopkins experience, and it’s been really exciting. There’s an element of creativity involved in a research lab because you have to design your own experiments. That doesn’t always happen in a classroom course.”

As one of 42 Johns Hopkins students who received Provost's Undergraduate Research Awards in the 2001-2002 academic year, Douglas will present an overview on her project during an upcoming awards ceremony. It will run from 3 p.m. to 6 p.m. on Thursday, March 7, in the Glass Pavilion on the Homewood campus, 3400 N. Charles St., in Baltimore.

The Johns Hopkins University is recognized as the country's first graduate research university, and has been in recent years the leader among the nation’s research universities in winning federal research and development grants. The opportunity to be involved in important research is one of the distinguishing characteristics of an undergraduate education at Johns Hopkins.

The Provost's Undergraduate Research Awards program provides one of these research opportunities, open to students in each of the university’s four schools with full-time undergraduates: the Krieger School of Arts and Sciences, the Whiting School of Engineering, the Peabody Conservatory and the School of Nursing. Since 1993, about 40 students each year have been awarded up to $2,500 to propose and conduct original research, some results of which have been published in professional journals. The awards, begun by then provost Joseph Cooper and funded through a donation from the Hodson Trust, are an important part of the university's commitment to research.


Story Source:

The above story is based on materials provided by Johns Hopkins University. Note: Materials may be edited for content and length.


Cite This Page:

Johns Hopkins University. "Mutations May Yield Clues To Heartbreaking Childhood Disease; Undergraduate Analyzes DNA To Probe Disorder That Causes Stunted Limbs, Retardation." ScienceDaily. ScienceDaily, 7 March 2002. <www.sciencedaily.com/releases/2002/03/020304081358.htm>.
Johns Hopkins University. (2002, March 7). Mutations May Yield Clues To Heartbreaking Childhood Disease; Undergraduate Analyzes DNA To Probe Disorder That Causes Stunted Limbs, Retardation. ScienceDaily. Retrieved July 29, 2014 from www.sciencedaily.com/releases/2002/03/020304081358.htm
Johns Hopkins University. "Mutations May Yield Clues To Heartbreaking Childhood Disease; Undergraduate Analyzes DNA To Probe Disorder That Causes Stunted Limbs, Retardation." ScienceDaily. www.sciencedaily.com/releases/2002/03/020304081358.htm (accessed July 29, 2014).

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