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:5/6/2015)... May 06, 2015 More and more people ... created by Brian Flatt, personal trainer and nutritionist. This particular ... 23 pounds in just three weeks or 21 days. , ... been scientifically tested and found to work on all types ... On average, people lose between 12 and 23 pounds using ...
(Date:5/5/2015)... VA (PRWEB) May 06, 2015 Social ... Regulations, Make Social Media Your Most Powerful Marketing Tool ... – Washington, DC, http://www.fdanews.com/SocialMedia , Social media ... dream of social media’s reach. Patients are using it ... their doctors about what they’ve discovered. , But, it ...
(Date:5/5/2015)... 2015 The Journal of ... “ Priority interventions to improve the management of ... research of the ACCORD program ” , As ... actors, including clinicians, patients and family members, managers, ... which included knowledge gap, “work in silos”, lack ...
(Date:5/5/2015)... FL (PRWEB) May 05, 2015 ... company focused on the $1.6 billion peripheral nerve repair ... first quarter ended March 31, 2015 compared to $3.14 ... market’s continued adoption of our proprietary portfolio of nerve ... Connector and AxoGuard® Nerve Protector – and our solid ...
(Date:5/5/2015)... May 05, 2015 The 2015 Crystal Ball, ... to benefit their global research, outreach and patient advocacy programs. ... and awards ceremony that attracted hundreds of supporters. , The ... discovery of the hepatitis B virus (HBV) by Dr. Baruch ... the Nobel Prize in Medicine for his discovery of the ...
Breaking Medicine News(10 mins):Health News:Brian Flatt Announces The 3 Week Diet - A Scientifically Proven Diet Plan 2Health News:FDAnews Announces: Social Media Regulatory Affairs Summit, June 24-26, 2015 2Health News:FDAnews Announces: Social Media Regulatory Affairs Summit, June 24-26, 2015 3Health News:FDAnews Announces: Social Media Regulatory Affairs Summit, June 24-26, 2015 4Health News:Priority interventions in chronic non-cancer pain published by Dove Medical Press 2Health News:AxoGen, Inc. Reports 58% Year-Over-Year Revenue Growth for the 2015 First Quarter 2Health News:AxoGen, Inc. Reports 58% Year-Over-Year Revenue Growth for the 2015 First Quarter 3Health News:AxoGen, Inc. Reports 58% Year-Over-Year Revenue Growth for the 2015 First Quarter 4Health News:Hepatitis B Foundation Marks 50th Anniversary of HBV Discovery at its Crystal Ball Gala 2Health News:Hepatitis B Foundation Marks 50th Anniversary of HBV Discovery at its Crystal Ball Gala 3
... found in cannabis, also known as hashish or marijuana, ... it on rats //. ,Yehoshua Maor, a ... created a synthetic version of a minor cannabis constituent ... lowering blood pressure, reported science portal The News Medical. ...
... common school system in the country, educationists Sunday said ... education //system and remove disparities among students. ... in the country so that all students get equal ... Madhu Prasad, educationist and a professor in Delhi University, ...
... and Mental Health Services Administration borrowed data from the ... revealed //that 2.4 million persons, 12 years of age ... relievers, 12 months prior to the survey. Meanwhile, an ... marijuana and 1 million, cocaine abuse. ,The ...
... what older American women say, in getting a mammogram done ... This study also reveals that older African-American, Asian-American and Hispanic ... women. ,And unlike prior studies based on patient self-reports ... rate of screening mammography among elderly American women is significantly ...
... by the Ministry of Health statistics it was shocking to ... from breast cancer //. Out of the total number of ... cases were Fijians, 22 were Indians and the rest belonged ... the Fiji Cancer Society's organized Breast Cancer Awareness Week. ...
... by the scientist Iriti Marcello at the University of Milan it ... have high levels of melatonin. The study results were published in ... hormone which is secreted by the pineal gland in the brain ... shocked the researcher. It is otherwise called the sleep hormone. It ...
Cached Medicine News:Health News:Older Women Have Fewer Mammograms Than is Reported 2Health News:Older Women Have Fewer Mammograms Than is Reported 3
(Date:5/5/2015)... , May 05, 2015 Research and ... the addition of the "Electro Surgical Market" ... global electrosurgical market is expected to achieve a ... invasive surgery offer huge benefits for patients as ... post surgery infections, condensed visible marks, bleeding control ...
(Date:5/5/2015)... LONG BEACH, Calif. and ST. ... with diabetes, high blood pressure or high cholesterol may ... part of performance-based networks, according to early results of ... Express Scripts (NASDAQ: ESRX ). "Pharmacists ... professionals and their frequent interactions with our members presents ...
(Date:5/5/2015)... Oregon , May 5, 2015 Big ... in the US, Europe , ( France ... , Spain , UK) and Japan ... etiology are reviewed. The report provides the 5-year test volume and ... HCV, HCV NAT, Anti-HBc, Anti-HBs, Anti-HAV, Hepatitis Delta, HBc Ag, HBe ...
Breaking Medicine Technology:Global Electro Surgical Market 2015 2SCAN Health Plan, Express Scripts' Quality Network Improves Medicare Beneficiary Health 2SCAN Health Plan, Express Scripts' Quality Network Improves Medicare Beneficiary Health 3SCAN Health Plan, Express Scripts' Quality Network Improves Medicare Beneficiary Health 42015 Opportunities in the Global Hepatitis Diagnostic Testing Market: Big Market Research 22015 Opportunities in the Global Hepatitis Diagnostic Testing Market: Big Market Research 3
... a global leader in medical diagnostic testing equipment ... dual source hematology contract agreement with Amerinet. Amerinet ... hematology analyzers, reagents, controls, and service. Training and ... through Sysmex America,s headquarters in Mundelein, Illinois. The ...
... Md., Oct. 19 In the largest meeting of its ... in Baltimore, Md., Oct. 21 –23, 2010, to present the ... research and care. The conference comes at ... fatal genetic disease that causes life-threatening lung infections and premature ...
Cached Medicine Technology:Sysmex America Announces Amerinet Hematology Contract 2Baltimore to Host Largest Gathering of Cystic Fibrosis Scientists and Clinicians in the World 2
Inquire...
Inquire...
... Tura, the new Lulu Guinness Eyewear line ... retro Lulu Guinness herself. This collection brings ... the past with a flair for contemporary ... flair include a sizable collection of prescription ...
... a variety of colors and classic ... styles designed with elegant jewel detail. ... women that are made from the ... in our fine timepieces, Timex branded ...
Medicine Products: