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:11/27/2014)... Most babies and young children don,t need medicines if ... Administration says. Over-the-counter (OTC) cold and cough medicine ... because they could cause serious and potentially deadly side ... three colds a year, but children get them more ... to give them pain relievers, decongestants and other medicines, ...
(Date:11/27/2014)... (HealthDay News) -- Thanksgiving meals can pose a challenge ... an expert says. Many traditional Thanksgiving dishes -- ... -- are gluten-free, but "when it comes to pies, ... considered," Dr. Anca Safta, director of the Gluten and ... Center in North Carolina, said in a center news ...
(Date:11/27/2014)... November 27, 2014 The founders of VIM ... comfortable and high functioning compression socks, are proud to announce ... use an innovative Gradient Pressure (TM) knitting technology that is ... VIM & VIGR’s commitment to adding flair and style to ... functional recently caught the eye of a writer at ...
(Date:11/27/2014)... Vegas, NV (PRWEB) November 27, 2014 ... 2014 shopping season has officially launched, Emassagechair.com ... and Cyber Monday Discount Event. , Negotiating on ... relationships with top massage chair brands, Emassagechair.com has generated ... their best deals and biggest discounts yet. , Shoppers ...
(Date:11/27/2014)... Two international trainers and lecturers on ... help one person with significant needs but limited means ... Dr. Mamaly Reshad of the Anacapa Dental Art Institute ... website devoted to helping dentist learn about using All-on-4™ ... be devoted to helping a patient who has damaged ...
Breaking Medicine News(10 mins):Health News:Steer Clear of Cold Meds for Babies, FDA Advises 2Health News:Expert Shares Gluten-Free Thanksgiving Tips 2Health News:VIM & VIGR Announces Launch of Men’s Line of Compression Socks 2Health News:Emassagechair.com is Excited to Announce Their Biggest Discount Event of the Year, Starting the Day After Thanksgiving and Lasting Through The Holiday Weekend. 2Health News:Emassagechair.com is Excited to Announce Their Biggest Discount Event of the Year, Starting the Day After Thanksgiving and Lasting Through The Holiday Weekend. 3Health News:Emassagechair.com is Excited to Announce Their Biggest Discount Event of the Year, Starting the Day After Thanksgiving and Lasting Through The Holiday Weekend. 4Health News:World-Renowned Oxnard All-on-4™ Dental Implants Experts to Give Away Full Mouth Rehabilitation Annually 2Health News:World-Renowned Oxnard All-on-4™ Dental Implants Experts to Give Away Full Mouth Rehabilitation Annually 3Health News:World-Renowned Oxnard All-on-4™ Dental Implants Experts to Give Away Full Mouth Rehabilitation Annually 4Health News:World-Renowned Oxnard All-on-4™ Dental Implants Experts to Give Away Full Mouth Rehabilitation Annually 5
(Date:11/27/2014)... , November 27, 2014 Hovione ... Drug (IND) Application with the U.S. Food and Drug ... strategy of developing improved drug delivery options for established ... gel, a novel formulation using a new patented crystalline ... the most widely prescribed oral antibiotics for acne. Currently, ...
(Date:11/26/2014)...  Aethlon Medical, Inc. (OTCQB:AEMD), announced today that it ... $3.3 million at a price of $0.30 per unit. ... investor. Each unit consists of one common share and ... Each whole warrant entitles the holder to acquire one ... period of five years from closing.  ...
(Date:11/26/2014)... Texas , Nov. 26, 2014 ... today announced the completion of previously announced concurrent ... million.  After fees and estimated offering expenses, Lexicon ... the transactions.  The transactions consisted of: ... common stock, pursuant to a registration statement that ...
Breaking Medicine Technology:Hovione Files its First Investigational New Drug Application With the FDA 2Aethlon Medical Announces $3.3 Million Equity Investment 2Aethlon Medical Announces $3.3 Million Equity Investment 3Lexicon Announces Completion Of $280 Million In Financing Transactions 2Lexicon Announces Completion Of $280 Million In Financing Transactions 3
Cached News: