Navigation Links
Researchers find new insights into inherited retinal disease
Date:1/17/2010

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine have discovered new links between a common form of inherited blindness affecting children and a gene known as Abelson helper integration site-1 (AHI1). Their findings, which may lead to new therapies and improved diagnostics for retinal disease, will appear online in advance of publication in the journal Nature Genetics on January 17.

A newly recognized class of disease known as "ciliopathies" has caught the attention of the medical community. Ciliopathies are caused by problems in the structure and/or function of cilia, which are small antenna-like structures protruding from the surface of most cells.

The function of cilia has not been understood, but patients with ciliopathies can suffer from a spectrum of problems including retinal blindness, obesity, renal failure, liver fibrosis and mental impairment. Major breakthroughs in the past few years have linked many forms of these diseases with defects in the structure or signaling capacity of the cilia in cells as diverse as retinal, fat, kidney, liver and nerve cells. Because cilia are so widely present on cells throughout the body, many seemingly unrelated diseases are now known to be related through functions of cilia.

"We are just beginning to uncover the genetic causes for these disorders, but more research is needed to understand why patients with these particular genetic alterations have such variable diseases," said Joseph G. Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego and Howard Hughes Medical Institute Investigator, who supervised the work.

The scientists, led by Gleeson and UCSD graduate student Carrie M. Louie, discovered that loss of the AHI1 gene, which had already been found to cause Joubert Syndrome, a ciliopathy of mental retardation and impaired balance, also caused severe early onset retinal degenerati
'/>"/>

Contact: Debra Kain
ddkain@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert

Page: 1 2

Related medicine news :

1. Stanford researchers find culprit in aging muscles that heal poorly
2. UCLA researchers identify markers that may predict diabetes in still-healthy people
3. Mayo Clinic researchers discover new diagnostic test for detecting infection in prosthetic joints
4. Bipolar disorder relapses halved by Melbourne researchers
5. Cell that triggers symptoms in allergy attacks can also limit damage, Stanford researchers find
6. High and mighty: first common height gene identified by researchers behind obesity gene finding
7. Researchers estimate about 9 percent of US children age 8 to 15 meet criteria for having ADHD
8. Majority of 2.4 Million U.S. Children With ADHD Not Diagnosed or Consistently Treated, According to New Gold Standard Study by Cincinnati Childrens Researchers
9. Researchers develop long-lasting growth hormone
10. Jefferson immunology researchers halt lethal rabies infection in brain
11. Purdue researchers develop technology to detect cancer by scanning surface veins
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/20/2014)... Punzoné , the first line of ... a lot to celebrate this month. October marks Italian Heritage ... and contributions of Americans of Italian heritage and Italians in ... it shares its favorite Italian cocktails and encourages everyone to ... even if it is only in a glass. , ...
(Date:10/20/2014)... Silver Spring, Maryland, USA (PRWEB) October 20, 2014 ... readers or to track interventions? Here comes a wonderful ... leading mobile app development company helped its ... track Intervention more efficiently. The app is designed for ... iPad, and iPod touch. This app is optimized for ...
(Date:10/19/2014)... 2014 The leading review website, ... ) and GreenGeeks are the best Dedicated Server ... those who want to buy high quality hosting ... The IT manager of Top10BestSEOHosting.com says, “We believe ... suppliers for everyone. A lot of the global ...
(Date:10/19/2014)... New York (PRWEB) October 19, 2014 ... Nations Population Fund, welcomes news of a ceasefire agreement ... the more than 200 girls who were kidnapped from ... girls have languished in captivity long enough, and it ... schools and communities," stated Dr. Osotimehin. , "We owe ...
(Date:10/19/2014)... Having been working in the garment industry for decades, ... According to James, one of the company’s top designers, many ... high-low skirts that add beauty to them. Chiffon floor length ... unveiled its new selection of 2014 long prom dresses. ... items are available in over 20 popular designs. The company ...
Breaking Medicine News(10 mins):Health News:Celebrate Italian Heritage Month With Authentic Cocktails from Punzoné: The Only Ultra Premium Line of Organic Imported Italian Vodka 2Health News:Celebrate Italian Heritage Month With Authentic Cocktails from Punzoné: The Only Ultra Premium Line of Organic Imported Italian Vodka 3Health News:Celebrate Italian Heritage Month With Authentic Cocktails from Punzoné: The Only Ultra Premium Line of Organic Imported Italian Vodka 4Health News:Metassessor App Launched: an RTI tool for Teachers & Parents 2Health News:Metassessor App Launched: an RTI tool for Teachers & Parents 3Health News:Top10BestSEOHosting.com Considers iPage And GreenGeeks As The Best Dedicated Server Hosting Suppliers 2Health News:2014 Long Prom Dresses From LunaDress Now Available In Over 20 Popular Designs 2
... top scientists will focus on childhood ... in mental health research, NEW YORK, Oct. 5 ... sophisticated imaging and genetic,technologies, are giving rise to important ... Some of the most,important new insights will be shared ...
... The American Cancer Society, the largest non-government, not-for-profit funding source ... national research and training grants totaling more than $52.6 million ... the grants, 91 are new and 18 are renewals of ... 1, 2008. , The American Cancer Societys Research and Training ...
... Exclusive Event Footage, TUALATIN, Ore., Oct. 5 ... and marketers of award-winning personal,electronic products, today announced ... an official sponsor of "Everest Rocks." A,fourteen-day trek ... top musicians and,mountaineers, Everest Rocks will culminate with ...
... Oct. 5 Anesiva,Inc. (Nasdaq: ANSV ) today ... will present at the Biotechnology Industry,Organization,s "BIO InvestorForum 2007" ... San Francisco. To access the live webcast or ... and go to the Investors page, and click on,Events. ...
... -- In a star-studded event,at the Shanghai ... individuals and the city of Shanghai for ... to make to promote and raise,awareness of ... intellectual,disabilities, and the Special Olympics movement around ...
... NEWARK, Del., Oct. 4 More than 125 ... Ann Minner, joined together,to support a multi-year, statewide ... Nation. The campaign, launched by Nemours Health and,Prevention ... community organizations, health professionals, child care centers,parents, and ...
Cached Medicine News:Health News:NARSAD - World's Leading Mental Health Research Charity - Presents 19th Annual New York Mental Health Symposium, Oct. 19th & 20th 2Health News:American Cancer Society awards research grants to 109 investigators at 77 institutions nationwide 2Health News:American Cancer Society awards research grants to 109 investigators at 77 institutions nationwide 3Health News:Oregon Scientific to Sponsor First-Ever Rock Concert on Mount Everest 2Health News:Oregon Scientific to Sponsor First-Ever Rock Concert on Mount Everest 3Health News:Special Olympics 'Special Spirit in China Award Of Excellence' Presented to Dedicated Friends of Special Olympics and City of Shanghai 2Health News:Governor Ruth Ann Minner, U.S. Senator Tom Carper, U.S. Representative Mike Castle and Lt. Governor John Carney Join 125 Delaware Community Leaders Endorsing the Campaign to Make Delaware's Kids the Healthiest in the Nation 2Health News:Governor Ruth Ann Minner, U.S. Senator Tom Carper, U.S. Representative Mike Castle and Lt. Governor John Carney Join 125 Delaware Community Leaders Endorsing the Campaign to Make Delaware's Kids the Healthiest in the Nation 3
(Date:10/17/2014)... 17, 2014 With the recent changes ... has come across several challenges in creating and ... globalization.  The Medical Affairs ... to providing benchmarking and best practices across critical ... a service composed of three stages: 1) member-driven ...
(Date:10/17/2014)... 17, 2014 ... announced the addition of the  "China Interventional ... offering.       (Logo: http://photos.prnewswire.com/prnh/20130307/600769) ... China impacted by ... consumption concept, dietary habit, way of working ...
(Date:10/17/2014)... , October 17, 2014 ... Pharmaceuticals Inc. (NASDAQ: ARNA ), NPS Pharmaceuticals ... XOMA ), Momenta Pharmaceuticals Inc. (NASDAQ: ... CPRX). Free research on these five companies can be ... markets on Thursday, October 16, 2014, ended on a ...
Breaking Medicine Technology:Early Key Findings from the Medical Affairs Consortium Research 2China Interventional Cardiovascular Device Industry Report 2014-2017 2China Interventional Cardiovascular Device Industry Report 2014-2017 3Biotech Equities Technical Briefing - Arena Pharma, NPS Pharma, XOMA, Momenta Pharma, and Catalyst Pharma Partners 2Biotech Equities Technical Briefing - Arena Pharma, NPS Pharma, XOMA, Momenta Pharma, and Catalyst Pharma Partners 3Biotech Equities Technical Briefing - Arena Pharma, NPS Pharma, XOMA, Momenta Pharma, and Catalyst Pharma Partners 4Biotech Equities Technical Briefing - Arena Pharma, NPS Pharma, XOMA, Momenta Pharma, and Catalyst Pharma Partners 5
... Disease Indication for HUMIRA Provides Patients with Visible, ... Chronic Autoimmune Disease, ABBOTT PARK, Ill., Jan. ... it has received U.S. Food and Drug Administration ... for adult patients,with moderate to severe chronic plaque ...
... Jan. 17 GeoVax Labs, Inc. (OTC,Bulletin Board: ... it has been named a "2008 Deal of ... recognized GeoVax for receiving a,$15 million IPCAVD (Integrated ... of Health (NIH) in October,2007. The award will ...
Cached Medicine Technology:Abbott's HUMIRA(R) (adalimumab) Receives FDA Approval For Moderate to Severe Chronic Plaque Psoriasis 2Abbott's HUMIRA(R) (adalimumab) Receives FDA Approval For Moderate to Severe Chronic Plaque Psoriasis 3Abbott's HUMIRA(R) (adalimumab) Receives FDA Approval For Moderate to Severe Chronic Plaque Psoriasis 4Abbott's HUMIRA(R) (adalimumab) Receives FDA Approval For Moderate to Severe Chronic Plaque Psoriasis 5Abbott's HUMIRA(R) (adalimumab) Receives FDA Approval For Moderate to Severe Chronic Plaque Psoriasis 6Abbott's HUMIRA(R) (adalimumab) Receives FDA Approval For Moderate to Severe Chronic Plaque Psoriasis 7GeoVax Labs, Inc. Selected by Georgia Bio as '2008 Deal of the Year' Award Winner in Life Sciences Industry 2GeoVax Labs, Inc. Selected by Georgia Bio as '2008 Deal of the Year' Award Winner in Life Sciences Industry 3GeoVax Labs, Inc. Selected by Georgia Bio as '2008 Deal of the Year' Award Winner in Life Sciences Industry 4
... precision, ergonomics, and value!, Comfortable ... soft non-slip, contoured handle , Finer ... plunger spring action , Completely autoclavable ... the need for recalibration , Easy-to-read ...
... With its simplified operations, the ... patient, clinic or satellite lab testing. ... offers multi-language software. Built on ... technology, the KX-21N features a completely ...
... Tubes were designed for ease of use, ... capillary blood sample is collected. The wider-diameter ... features an integrated collection scoop and improved ... tubes is available for hematology and chemistry ...
... The Identity pacemaker family, which ... provides clinicians with the most advanced ... AF Suppression algorithm, the first and ... to suppress atrial fibrillation (AF). The ...
Medicine Products: