HOME >> MEDICINE >> NEWS
Fifteen-year hunt uncovers gene behind 'pseudothalidomide' syndrome

members. "We knew it would be really important to find the gene, but it just wasn't practical at that time."

A few years later, in 1995, two Colombian geneticists started their quest to fully understand Roberts syndrome. Without their push, the gene for Roberts might still be unknown.

Colombian Hugo Vega had noticed an unusual number of patients with Roberts syndrome in the clinic at the University of Bogot. Fairly quickly, he tracked down seven families with Roberts syndrome in two villages outside Bogot. Four of the families share an 18th-century ancestor, he and Miriam Gordillo, then an undergraduate, discovered.

"The families have really collaborated with us, they've worked with us quite closely to help us uncover the gene behind the syndrome," says Gordillo. "Now we have about 10 affected families from outside Bogot, and we can offer a genetic test to families at risk of Roberts syndrome."

Vega and Gordillo, a husband-and-wife team, criss-crossed the globe to continue their work and find better funding opportunities. In Japan, Vega tied the Colombian families' syndrome to a large region of chromosome 8. In The Netherlands, a post-9/11 detour, he added to his analysis samples from Turkish and Italian families with Roberts syndrome.

In 2004, Gordillo got a student visa to work with Jabs and to study for her doctorate in human genetics at Johns Hopkins. Over the past year, Gordillo analyzed the chromosome 8 region in samples from 15 families (consisting of 18 affected members and 33 unaffected members) and tied the condition to one of 6 genes.

Then, the international team compared the human sequence of the genes to those from chimpanzee, mouse, rat, chicken and zebrafish, and to the gene sequences of the affected family members. One segment of a gene called ESCO2 that was identical in all the animals contained changes that disrupted the gene's protein-making instructions in people with the syndrome. Knocking out th
'"/>

Contact: Joanna Downer
jdowner1@jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions
11-Apr-2005


Page: 1 2 3 4

Related medicine news :

1. New survey uncovers how insomnia affects job performance and safety
2. Study uncovers mechanism of drug resistance in form of lung cancer
3. Large-scale cross-platform study of research microarrays uncovers high concordance across platforms
4. Study uncovers significant functional differences of novel estrogen receptor
5. Study of obesity in prostate cancer screening uncovers new predictor of disease for overweight men
6. Study uncovers placental microtransfusions lead to transmission of AIDS virus during childbirth
7. Study uncovers potential biomarker for lupus atherosclerosis
8. Computer scientist reveals the math and science behind blockbuster movies
9. The science behind a wrinkle-filler: Researchers discover for the first time how product works
10. Magnet lab researcher exploring science behind commercial applications of liquid helium
11. Poorest countries well behind global health goals agreed years ago

Post Your Comments:
(Date:10/20/2014)... Rockynol Retirement Community broke ... 14. The $11 million project will include the latest ... kitchen with full-service restaurant style dining. , “We are ... class Assisted Living apartments,” said Kara Hanzie, Rockynol Executive ... quality of care and this investment is proof of ...
(Date:10/20/2014)... Cleveland, Ohio (PRWEB) October 20, 2014 Unveiled ... Affairs’ new Strategic Direction Scorecard conservatively estimates member hospital ROI ... dollar spent on dues, The Center provides $12.50 in value ... ROI is (Member Value – Member Dues)/Member Dues. , ... get at this number and we think the methodology is ...
(Date:10/19/2014)... Hastings and Hastings, a Phoenix personal ... throughout the greater Phoenix area and across Arizona reports ... to catastrophic automobile accidents. Statistics have indicated a steady ... Arizona. As such, Hastings and Hastings has seen a ... those who have been injured through no fault of ...
(Date:10/19/2014)... Having been working in the garment industry ... customer needs. According to James, one of the company’s top ... or with high-low skirts that add beauty to them. Chiffon ... LunaDress has unveiled its new selection of 2014 long prom ... brand new items are available in over 20 popular designs. ...
(Date:10/19/2014)... Stephen T. Greenberg, M.D., with offices in Woodbury, Southampton and ... as one of Long Island’s best cosmetic surgeons. In ... the best provider for Botox injections. Glisten, his Skin & ... best Laser Treatment center on Long Island.* , The voting ... the contest once per day, per IP address. , Stephen ...
Breaking Medicine News(10 mins):Health News:Rockynol Retirement Community Expands Assisted Living Center 2Health News:Scorecard Estimates Hospital ROI at $12.50 for every $1 Spent on Dues 2Health News:Scorecard Estimates Hospital ROI at $12.50 for every $1 Spent on Dues 3Health News:Scorecard Estimates Hospital ROI at $12.50 for every $1 Spent on Dues 4Health News:Hastings And Hastings Reports Record Demand In 2014 For Legal Representation With Regard To Catastrophic Automobile Accidents 2Health News:Hastings And Hastings Reports Record Demand In 2014 For Legal Representation With Regard To Catastrophic Automobile Accidents 3Health News:2014 Long Prom Dresses From LunaDress Now Available In Over 20 Popular Designs 2Health News:Dr. Stephen T. Greenberg – Nominated for the 10th Consecutive Year for One of Long Island’s Best Cosmetic Surgeons for 2015 by the Long Island Press 2
(Date:10/19/2014)... SEATTLE, Wash. , Oct. 20, 2014 ... today that it will report its third quarter 2014 ... close of the U.S. financial markets. Following the announcement, ... conference call to discuss the results and provide a ... PDT). Access to the event can be obtained as ...
(Date:10/18/2014)... 18, 2014  In a policy paper ... the nation,s largest lesbian, gay, bisexual and transgender ... of Truvada for Pre-Exposure Prophylaxis (PrEP). PrEP is ... prevent the spread of a disease or infection ... name anti-HIV drug combination currently approved for PrEP, ...
(Date:10/17/2014)... , Oct. 17, 2014  Hanger, Inc. (NYSE: ... to report its results of operations for the quarter ... after the market closes.  A conference call to discuss ... ET, on Friday, November 7, 2014. Those wishing to ... until Friday, November 14, 2014 by dialing 1-855-859-2056 and ...
Breaking Medicine Technology:CTI BioPharma to Report Third Quarter 2014 Financial Results on October 29, 2014 2HRC Endorses PrEP, Calls for Bold Action to Expand Access to Anti-HIV Drug 2HRC Endorses PrEP, Calls for Bold Action to Expand Access to Anti-HIV Drug 3
Cached News: