Navigation Links
Scripps Translational Science Institute Contributes to Discovery of Predisposition Gene for Childhood Cancer
Date:8/25/2008

SAN DIEGO, Aug. 25 /PRNewswire/ -- Researchers at Scripps Translational Science Institute (STSI) have contributed to a major genetic breakthrough -- the discovery of a gene responsible for the majority of inherited cases of a common childhood cancer. The finding was reported online Aug. 24 in Nature.

Neuroblastoma -- a cancer of the nervous system -- accounts for 15 percent of childhood cancer deaths and has bleak survival probabilities of less than 40 percent. There is a strong familial association and it was predicted more than 30 years ago that there is a genetic element to the disease.

The genetic discovery stems from a global research collaboration headed by Children's Hospital of Philadelphia. The study involved screening the genomes of 20 affected families (a total of 176 people), looking for single letter changes in the DNA code, which are mutations known as single nucleotide polymorphisms, or SNPs.

STSI was sought to participate in the study based on its expertise in conducting structural studies of SNPs identified in genes and proteins. Researchers at STSI looked at the mutations identified through the genetic screening and determined precisely where on the protein structure those mutations resided, enabling them to predict whether the mutations are likely to have meaningful biological effects.

Researchers identified inherited mutations in the gene encoding ALK, a tyrosine kinase receptor, as being responsible for causing the disease known as neuroblastoma in the majority of families. SNP mutations in this gene were also found in sporadic cases of neuroblastoma. The mutations mapped to a part of the ALK gene that cause it to be constantly active in promoting cell proliferation, explaining its ability to contribute to the cancer.

"This is a significant finding because it means we can screen for people who carry mutations to see if they are at risk for neuroblastoma," said Nicholas Schork, Ph.D., director of biostatistics for STSI.

Schork and STSI researcher and Dickinson scholar Ali Torkamani, Ph.D. are among the authors of the article in Nature online. The research opens the door for a long-sought-after molecular diagnostic test for predisposition to neuroblastoma, as well as identifying ALK as a promising drug target.

Scripps Translational Science Institute (STSI) is an initiative of Scripps Health, in collaboration with The Scripps Research Institute. Scripps Health is a $2 billion nonprofit community health system based in San Diego, Calif.


'/>"/>
SOURCE Scripps Translational Science Institute
Copyright©2008 PR Newswire.
All rights reserved

Related medicine news :

1. Scripps Research scientists shed new light on how antibodies fight HIV
2. Scripps Health Treats More Than 160 Fire Victims at Emergency Departments Across San Diego County
3. Scripps research scientists discover chemical triggers for aggression in mice
4. Scripps research scientists find new genetic mutation that halts the development of lupus
5. Scripps scientists find calcium channel blockers help normalize lysosomal storage disease cells
6. Scripps scientists peg wind as the force behind fish booms and busts
7. Scripps research scientists devise approach that stops HIV at earliest stage of infection
8. Scripps Florida awarded $7.6 million grant to develop novel treatment for Parkinsons disease
9. Scripps research team wins $4M grant to study effects of chronic marijuana use
10. Scripps Florida scientists develop a process to disrupt hepatitis C virion production
11. Scripps Memorial Hospital Nurses Throw Out CNA
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/26/2017)... ... ... of Eden”: retells the stories of three Bible figures in modern terms. “Just What ... trader, horse farmer, artist and a former GM journeyman. Born in 1953 in Portland, ... to Dayton, Ohio, where Penny graduated high school. At sixteen, she toured France to ...
(Date:5/24/2017)... ... 2017 , ... Last month, representatives from Rendina Healthcare Real ... officials to celebrate the grand opening of the 87,000 square foot medical office/ICU ... its ongoing relationship with RWJBarnabas Health, New Jersey’s largest health system. Two years ...
(Date:5/24/2017)... ... May 24, 2017 , ... Altec Products, Inc., a ... 2017 – a one-day technology conference in San Diego, CA. , At nVerge ... users to fully utilize and enhance their Sage ERP solutions by providing improved visibility ...
(Date:5/24/2017)... ... , ... Dr. Manju R. Kejriwal, a leading Ohio dentist, is now welcoming ... referral. Dr. Kejriwal understands the emotional and financial toll traditional orthodontics can take on ... no longer need to feel the esthetic effects of wires and brackets when they ...
(Date:5/24/2017)... Hattiesburg, Mississippi (PRWEB) , ... May 24, 2017 , ... ... fact is his has the ability to sell luxury homes anywhere on the planet. ... in the county side from Hattiesburg to Houston city-scapes. A quick search of “11 ...
Breaking Medicine News(10 mins):
(Date:5/6/2017)...  May is Stroke Awareness Month and Omron Healthcare ... methods to prevent a stroke: monitor and manage your ... and Prevention, undetected and uncontrolled hypertension is a leading ... leader in personal heart health technology, recently evolved its ... and stroke and is advancing a national public education ...
(Date:5/4/2017)... , May 4, 2017  A recent ... Control, Ultraviolet-C light as a means ... SmartUVC,s ability to reduce bioburden on anesthesia workstations. ... reduction on high-touch, complex medical equipment surfaces contaminated ... infections. "This study further validates the ...
(Date:5/4/2017)... 4, 2017  DarioHealth Corp. (NASDAQ: DRIO), a leading ... data solutions, today announced that it is teaming up ... Technologies Limited to lower diabetes healthcare costs in ... card, which is available throughout all provinces and territories ... be eligible for additional savings when shopping for Dario ...
Breaking Medicine Technology: