HOME >> BIOLOGY >> NEWS
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
prs@jhu.edu
410-516-7907
Johns Hopkins University
1-Mar-2002


Page: 1 2 3

Related biology news :

1. Mutations in the ABCR gene are an overwhelming cause of inherited vision loss
2. Mutations not the only gene defect that leads to cancer
3. Emory University Scientists Demonstrate New Pathway For Genetic Mutations In Everyday Cell Life
4. Genetic Mutations Linked To Rare Metabolic Disease
5. Aspirin Decreases Genetic Mutations Associated With Inherited Colon Cancer
6. New Genetic Mutation Linked To Breast Cancer Risk Poses Less Risk Than Previously Discovered Gene Mutations
7. Frequent Genetic Mutations In Hepatocellular Carcinoma
8. UCSF Researchers Identify Mutations In Gene Causing Hereditary Form Of Childhood Rickets
9. Women Who Smoke While Pregnant Pass Along Genetic Mutations To Their Babies, According To Pitt Researchers
10. Common Mutations Linked To Increased Risk Of Breast Cancer
11. Salvage Gene Is At The Root Of Many Mutations

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:8/23/2020)... Texas (PRWEB) , ... August 21, 2020 , ... ... Rigaku Corporation has been published and is now available on the ... crystal X-ray diffraction—serves the X-ray analysis community, presenting current news and crystallographic research. ...
(Date:8/21/2020)... (PRWEB) , ... August 20, 2020 , ... ... that Hassan Movahhed , a Clinical Operations executive with expertise in clinical ... has joined the firm as an Expert Consultant. Throughout his career, Mr. Movahhed ...
(Date:8/7/2020)... ... August 06, 2020 , ... ... the prestigious National STEM Scholar Program, a unique professional development program that provides ... support for middle school science teachers nationwide. , Created in partnership between the ...
Breaking Biology News(10 mins):
(Date:7/31/2020)... ... 29, 2020 , ... eSource has long been touted as the solution to ... of eSource, the reasons it did not take off as quickly as people initially ... industry is moving towards capturing data electronically for clinical trials and then repurposing it ...
(Date:7/18/2020)... , ... July 16, 2020 , ... “We are thrilled ... Wave Bioactives. “It’s the only technology of its kind on the market and we ... onions with the protective capacity of traditional cultured ingredients, creating a natural way to ...
(Date:7/10/2020)... HONG KONG (PRWEB) , ... July 09, 2020 ... ... chemical compound called 1-phenyl-2-thiourea (PTU) is commonly used to suppress pigment formation in ... years, the PolyU research team led by Dr MA has been using the ...
(Date:7/1/2020)... ... June 29, 2020 , ... The Interlocal Purchasing System (TIPS), ... membership, recently named BioFit Engineered Products an Awarded Vendor. Awarded Vendor ... seating, cafeteria tables, book trucks and carts at discounted pricing without the delay ...
Breaking Biology Technology:
Cached News: