Navigation Links
UCSF receives $4.5M to study value of gene sequencing in newborns
Date:9/5/2013

s potential for identifying disorders that California currently includes in the newborn screen, as well as those that are not currently screened for, but for which newborns may benefit if detection can occur early in life.

The UCSF research will examine the issue from three vantage points. The first will be a partnership with the California Department of Public Health (CDPH) to test blood drops previously collected from 1,400 children statewide who received standard newborn screening, to determine whether exome sequencing would be more accurate and also whether it provides insights that could lead to improved newborn screening, care and treatment.

My hope is that this will give us solid information on the specificity of gene testing, versus standard biochemical testing, for the disorders we are already screening for, said Robert Nussbaum, MD, who leads the UCSF Division of Medical Genetics and holds the Holly Smith Distinguished Professorship in Science and Medicine at UCSF. In addition, some of the disorders we pick up during screening are chemical abnormalities, but we dont know whether they will actually cause problems for the child. Wed like to know whether there is something in the childrens genes that determines whether these abnormalities actually will cause disease.

The second project will offer genetic testing to patients in a UCSF immune system disorders clinic run by Jennifer Puck, MD, a pediatrician in the UCSF Benioff Childrens Hospital whose research laboratory pioneered the current newborn test for Severe Combined Immunodeficiency (SCID). Parents will be asked to give informed consent for this arm of the project.

While there are several known genetic mutations that lead to the immune disorder, Pucks original test simply looks at a marker of whether children lac
'/>"/>

Contact: Kristen Bole
kristen.bole@ucsf.edu
415-502-6397
University of California - San Francisco
Source:Eurekalert

Page: 1 2 3 4

Related biology news :

1. In search for a vaccine, IU biologist receives $2.3 million to explore chlamydia genomics
2. Renowned geneticist R. Rodney Howell receives ACMG Foundation Lifetime Achievement Award
3. UF receives $1 million from Keck Foundation to study mechanisms of inherited disease
4. Gladstone scientist Warner C. Greene receives Washington University School of Medicine Alumni Award
5. Carnegies Wolf B. Frommer receives Bogorad Award for Excellence in Plant Biology
6. UC Riverside plant cell biologist receives top scientific honor
7. UC Riverside receives grant for global health and development research
8. Washington University receives $8 million to lead international childhood malnutrition effort
9. SRI Sarnoffs Iris on the Move® N-Glance™ Identification System Receives Lenel Factory Certification
10. SF State biology department receives $1.5 million to support science teaching
11. Dr. Karen Lloyd receives WHOIs Holger W. Jannasch Visiting Scholar Award
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/28/2014)... Institute for Biologically Inspired Engineering at Harvard University ... be commercialized by a newly formed private company ... personalized medicine products. The announcement follows ... Technology Development (OTD) and the start-up Emulate Inc., ... human Organs-on-Chips platform. , "This is a ...
(Date:7/27/2014)... the asteroid strike that wiped them out if it ... scientists say. , A fresh study using up-to-date fossil ... build a new narrative of the prehistoric creatures, demise, ... in the few million years before a 10km-wide asteroid ... upheaval. This included extensive volcanic activity, changing sea levels ...
(Date:7/27/2014)... potential for global climate change to cut food supplies. ... the interactions between increasing temperature and air pollution ... , A new study involving researchers at MIT shows ... policymakers need to take both warming and air pollution ... looked in detail at global production of four leading ...
Breaking Biology News(10 mins):Wyss Institute's technology translation engine launches 'Organs-on-Chips' company 2Wyss Institute's technology translation engine launches 'Organs-on-Chips' company 3Dinosaurs fell victim to perfect storm of events, study shows 2Study: Climate change and air pollution will combine to curb food supplies 2Study: Climate change and air pollution will combine to curb food supplies 3
... at Children's Hospital Boston have demonstrated that it may ... attack and protect the heart from scarring. Working with ... inhibitor of cell division with a naturally occurring growth ... two agents enabled heart-muscle cells to multiply and the ...
... at Urbana-Champaign have developed a simple "dipstick" test for ... blood serum. The test is based upon DNA-gold nanoparticle ... to those used for home pregnancy tests. , "Building ... constructed colorimetric sensors that are based on the lateral ...
... started compiling an online database of seashells 15 years ... meticulous record-keeping would eventually shed light on a 40-year-old ... the island rule: that small animals isolated on islands ... large animals evolve to be smaller. In a paper ...
Cached Biology News:Rescuing injured hearts by enhancing regeneration 2Rescuing injured hearts by enhancing regeneration 3Scientists design simple dipstick test for cocaine, other drugs 2Scientist's persistence sheds light on marine science riddle 2
(Date:7/28/2014)... 28, 2014 It’s a hard truth: Nearly ... to further their post-secondary education are failing to obtain a ... this year. And according to an analysis by The ... veteran students’ uninformed choice of college majors, which leads to ... the study: Some 51.7 percent of post-9/11 veterans using ...
(Date:7/28/2014)... 2014  InterMune, Inc. (NASDAQ: ITMN ) ... 2014 financial results at the close of the U.S. ... and webcast will be hosted by InterMune at 4:30 ... investors and others may participate in the conference call ... ID#21728775. A replay of the webcast and teleconference will be ...
(Date:7/28/2014)... 28, 2014 Research and Markets has ... Market 2014-2018" report to their offering. ... is a technique used to determine the size of a ... is crucial to analyze the size of particles as it ... analysis is performed to determine the behavior and nature of ...
(Date:7/26/2014)... Albany, NY (PRWEB) July 26, 2014 ... 2020 provides key market data on the Canada ... in millions of US dollars, volume (in units) ... segments - High-End Endoscopy Visualization Systems, Mid-Range Endoscopy ... Browse Full Report at http://www.marketresearchreports.biz/analysis/213254 . , ...
Breaking Biology Technology:Resume Place: To Choose the Best College Majors, Veterans Need Early Career Counseling, Data Shows 2Resume Place: To Choose the Best College Majors, Veterans Need Early Career Counseling, Data Shows 3Resume Place: To Choose the Best College Majors, Veterans Need Early Career Counseling, Data Shows 4InterMune to Release Second Quarter Financial Results on August 6 2Global Particle Size Analysis Market 2014-2018 2Canada Endoscopy Visualization Systems Market Outlook to 2020: MarketResearchReports.Biz 2Canada Endoscopy Visualization Systems Market Outlook to 2020: MarketResearchReports.Biz 3Canada Endoscopy Visualization Systems Market Outlook to 2020: MarketResearchReports.Biz 4Canada Endoscopy Visualization Systems Market Outlook to 2020: MarketResearchReports.Biz 5
... Medical, Inc.,(Nasdaq: ATSI ), manufacturer and marketer ... that the US Food and Drug,Administration (FDA) has ... of its line of ATS Open Pivot(R) Mechanical ... Michael Dale, Chairman and Chief Executive Officer, noted, ...
... FabricAide(TM) to High Schools ... ... 22 Industry leading,SportCoatings(TM) and the North American Booster Club ... allows parents to raise funds while being,proactive against the threat ...
... U.S. Food and Drug,Administration (FDA) today approved RISPERDAL(R) ... 13-17 and for the short-term,treatment of bipolar mania ... disorder in children and adolescents ages 10-17. ... than 430 adolescents,ages 13-17, in the treatment of ...
Cached Biology Technology:ATS Medical Expands Open Pivot Heart Valve Offerings 2SportCoatings; The North American Booster Club Association (NABCA); the Coatings Specialist Group New Booster Program Goes High Tech With Invisible Antimicrobial Defense 2SportCoatings; The North American Booster Club Association (NABCA); the Coatings Specialist Group New Booster Program Goes High Tech With Invisible Antimicrobial Defense 3FDA Approves RISPERDAL(R) to Treat Adolescents with Schizophrenia and Children and Adolescents with Bipolar Mania 2FDA Approves RISPERDAL(R) to Treat Adolescents with Schizophrenia and Children and Adolescents with Bipolar Mania 3
Evi-1 Antibody Shipping Temperature: Cold Storage Temperature: -20C...
... contains the basic components required for the ... and recombinant mouse Dickkopf homolog-1 (Dkk-1) in ... contains sufficient materials to run ELISAs on ... following conditions are met: The assay ...
The pCDF Expression System 1 plus Competent Cells contains 10 µg of pET-45b(+) DNA. pET-45b carries an N-terminal His•Tag ® coding sequence that is cleavable with enterokinase as well...
... Phosphorylase 1 ( Abpromise for all ... Synthetic peptide: MAATGANAEK AESHNDCPVR LLNPNIAKMK EDILYHFNLT TSRHNFPALF ... amino acids 1-99 of Human Uridine Phosphorylase ... 7378 Swiss Protein ...
Biology Products: