Navigation Links
15-year hunt finds cause of pseudothalidomide syndrome

A team of scientists from Colombia, the United States and elsewhere has successfully completed a 15-year-plus search for the genetic problems behind the very rare Roberts syndrome, whose physical manifestations often include cleft lip and palate and shortened limbs that resemble those of babies whose mothers took thalidomide during pregnancy.

The discovery, which is reported in the April 10 advance online section of Nature Genetics, proves that genes behind very rare inherited diseases can now be found, offering excellent opportunities to strengthen understanding of craniofacial and limb development, health and disease beyond the rare disease itself, say the researchers.

Because of advances in technology and computer analysis, the researchers were able to find the Roberts gene, called ESCO2, by studying samples from just 15 Roberts syndrome families from Colombia, Turkey, Canada and Italy and to provide insight into its biological effect.

"For decades now, we've known that the appearance and number of chromosomes were abnormal in people with Roberts syndrome, but we hadn't been able to figure out why or how," says Ethylin Jabs, M.D., a professor in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. "Just within the last few years have the genetic techniques, the genomic information, and the computer analysis become powerful enough to find the genetic mutations behind a disease as rare as Roberts."

Some of the techniques they used -- such as that to make many copies of DNA from a small sample -- have been around in some form for more than a decade. But others are much more recent developments. For example, the researchers found important genetic changes in part by comparing different species' genetic sequences, most of which were published only within the last four years.

"In 1989, we were collecting samples and characterizing the chromosome problem in cells from people with Roberts syndrome," Jabs remembers. "
'"/>

Source:John Hopkins


Page: 1 2 3 4

Related biology news :

1. Current human embryonic stem cell lines contaminated UCSD/Salk team finds
2. Study finds more than one-third of human genome regulated by RNA
3. ASU researchers finds novel chemistry at work to provide parrots vibrant red colors
4. Same mutation aided evolution in many fish species, Stanford study finds
5. NC State scientist finds soft tissue in T. rex bones
6. Genrate: a generative model that finds and scores new genes and exons in genomic microarray data
7. Genetically modified rice in China benefits farmers health, study finds
8. Survey finds silver contamination in North Pacific waters
9. Anti cancer virotherapy well tolerated in first human administration, research finds
10. NASA study finds snow melt causes large ocean plant blooms
11. Oceans more vulnerable to agricultural runoff than previously thought, study finds
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: year hunt finds cause pseudothalidomide syndrome

(Date:10/22/2014)... Inc. (NASDAQ: AWRE ), a leading supplier of ... third quarter ended September 30, 2014. Revenue for ... of 40% compared to $4.3 million in the same quarter ... was $4.1 million compared to $1.0 million in the third ... month period was primarily due to: i) a $1.0 million ...
(Date:10/18/2014)... genetic conditions, a certain type of exome sequencing method ... traditional molecular diagnostic methods, according to a study appearing ... to coincide with the American Society of Human Genetics ... region of the genome (the complete set of genes ... has been rapidly applied in research settings and recent ...
(Date:10/17/2014)... available in German . ... few drugs. When treating overdoses, doctors are often limited to ... if there is a combination of drugs involved. So what ... swallows his grandmother,s pills? ETH professor Jean-Christophe Leroux from the ... an answer to this question. "The task was to develop ...
Breaking Biology News(10 mins):Aware, Inc. Reports Third Quarter 2014 Financial Results 2Aware, Inc. Reports Third Quarter 2014 Financial Results 3Aware, Inc. Reports Third Quarter 2014 Financial Results 4Aware, Inc. Reports Third Quarter 2014 Financial Results 5Aware, Inc. Reports Third Quarter 2014 Financial Results 6Aware, Inc. Reports Third Quarter 2014 Financial Results 7Study examines type of exome sequencing and molecular diagnostic yield 2Study examines type of exome sequencing and molecular diagnostic yield 3Emergency aid for overdoses 2Emergency aid for overdoses 3
... better understanding of brain injury, a way to rejuvenate ... monitor their glaucoma at home, number among this years ... What surprises me every time I walk through ... involving so many NJIT graduate and undergraduate students, said ...
... French . , A new brain-imaging study by ... ghrelin - a stomach hormone, acts on specific regions of ... and eating for pleasure. This study, published in the ... understanding and treating obesity, a condition affecting millions world-wide. ...
... The potential of no-tillage (NT) soils for increasing the soil ... Most of the previous studies about SOC accrual in NT ... depth), and not for the whole soil profile. The lack ... to conclusively ascertain the effects of NT farming on SOC ...
Cached Biology News:NJIT applauds students for studies on brain injury, glaucoma and more 2Hunger hormone: Makes food more attractive 2Finding the real potential of no-till farming for sequestering carbon 2
(Date:10/22/2014)... According to new market research report "Cloud ... Deployment & Support), by Service Model (SaaS, PaaS, ... (Hybrid & Community)) - Global Forecast to 2019", ... Professional Services Market into various sub-segments with an ... identifies the drivers and restraints for this market ...
(Date:10/22/2014)... Oct. 22, 2014 Research and Markets ... Market by Material, by Application, Geography - Global Analysis ... offering. Organic electronics, also called as ... material science which deals with small conductive molecules and ... small molecules and polymers are carbon based, made using ...
(Date:10/20/2014)... (PRWEB) October 20, 2014 Convey ... that a team from Iowa State University won first ... contest. Using a Convey HC-2ex, the team’s solution achieved ... times faster than the second place finisher. , Experts ... embarked upon the month long challenge, using a variety ...
(Date:10/20/2014)... , Oct. 20, 2014  GenVec, Inc. (NASDAQ: ... P. Horovitz , Ph.D., from its board of directors effective ... in August 2003, and served as its chairman from June ... on the Nominating and Corporate Governance and Audit Committees of ... more than a decade of dedicated service to GenVec, and ...
Breaking Biology Technology:Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 2Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 3Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 4Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 5Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 2Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 3Team from Iowa State Wins 2014 MemoCODE Design Contest Using Convey HC-2ex 2Team from Iowa State Wins 2014 MemoCODE Design Contest Using Convey HC-2ex 3Zola P. Horovitz To Retire From GenVec Board 2
... DIEGO, Jan . 8 Arena Pharmaceuticals, Inc. (Nasdaq: ... to present at the 27th Annual J.P. Morgan Healthcare Conference ... p.m. Eastern Time) at the Westin St. Francis Hotel in ... is scheduled to provide an overview of the company, including ...
... 8 Palomar Medical Technologies, Inc. (Nasdaq: ... of light-based systems for cosmetic treatments, today announced ... the Swedish company Q-MED AB (OMX Nordic Exchange, ... based in Uppsala, Sweden. The international distribution ...
... SAN DIEGO, Jan. 7 Volcano Corporation,(Nasdaq: ... sales of,products for the diagnosis and treatment of coronary ... its previously announced acquisition of,Axsun Technologies, Inc. , ... manufacturer of lasers and optical,engines used in medical Optical ...
Cached Biology Technology:Arena Pharmaceuticals to Present at the 27th Annual J.P. Morgan Healthcare Conference 2Arena Pharmaceuticals to Present at the 27th Annual J.P. Morgan Healthcare Conference 3Palomar and Q-MED AB Terminate International Distribution Agreement 2Palomar and Q-MED AB Terminate International Distribution Agreement 3Palomar and Q-MED AB Terminate International Distribution Agreement 4Palomar and Q-MED AB Terminate International Distribution Agreement 5Volcano Announces Closing of Axsun Technologies Acquisition 2
Syd-2 (cL-19)...
... isolation and affinity purification of small ... Hydrophobic, monodisperse magnetic particles (2.8 m ... further surface activation is not required. ... optimal orientation for affinity purification of ...
ZO-2 (H-110)...
p-Bcl-2 (Thr 74)...
Biology Products: