Navigation Links
Scientists unravel the cause of rare genetic disease: Goldman-Favre Syndrome explained
Date:8/31/2011

Bethesda, MDA new research report published in The FASEB Journal (https://www.fasebj.org) will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called Enhanced S-Cone Syndrome or Goldman-Favre Syndrome. In the report, scientists found that the expression of genes responsible for the healthy renewal of rods and cones in the retina was reduced and that this problem originates in the photoreceptors themselves rather than in the adjacent retinal pigment epithelial layer as once thought.

"This research could help identify therapeutic agents that would prevent, ameliorate or possibly cure these blinding diseases related to defective renewal of retinal cells," said Krzysztof Palczewski, Ph.D., a senior scientist involved in the research and an editorial board member of The FASEB Journal from the Department of Pharmacology in the School of Medicine at Case Western Reserve University, in Cleveland, Ohio. "It is possible that during aging, this process is slowed and such intervention could be important for determining diseases such as age-related macular degeneration."

To make this discovery, researchers studied both human ESCS patients and an ESCS mouse model. They found that phagocytosis, a process that allows for the normal and continual renewal of rods and cones in the retina, was defective. Using RNA-sequencing to identify differences in complete transcriptomes, and cell culture techniques, scientists demonstrated that the phagocytotic defect was due to the ESCS photoreceptors themselves, rather than the adjacent retinal pigment epithelium layer that also is involved in photoreceptor phagocytosis.

"Learning what goes wrong in rare diseases like Enhanced S-Cone Syndrome allows us to understand how vision works at the molecular level," said Gerald Weissmann, M.D., Editor
'/>"/>

Contact: Cody Mooneyhan
cmooneyhan@faseb.org
301-634-7104
Federation of American Societies for Experimental Biology
Source:Eurekalert

Page: 1 2

Related biology news :

1. Hurricane Irene: Scientists collect water quality and climate change data from huge storm
2. Tropical coral could be used to create novel sunscreens for human use, say scientists
3. Scientists find new drug candidates for set of protein-folding diseases
4. Weight loss without the hunger: Cornell scientists say eat a lighter lunch
5. Scientists receive grant to develop new DNA sequencing method
6. Cars could run on recycled newspaper, Tulane scientists say
7. Scientists create natural Alzheimers-fighting compound in lab
8. Scientists reengineer antibiotic to overcome dangerous antibiotic-resistant bacteria
9. Scripps Research scientists help pinpoint cause of stress-related DNA damage
10. Penn molecular scientists develop color-changing stress sensor
11. Scientists discover the most primitive living eel
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/10/2014)... of the International Science and Business Belt project in ... led by professor Won Do Heo, have developed a ... remotely control specific receptors by light. They have named ... neuronal differentiation inducement. , The most significant feature of ... activate neuronal functions without the need of other substances. ...
(Date:7/10/2014)... or soap might not be ape friendly, and the situation ... in the Cell Press journal Current Biology on ... already led to the conversion of Southeast Asian forest into ... guidelines are not put in place very soon, researchers say ... Africa will be bad news for great apes there as ...
(Date:7/10/2014)... microbial megacity, teeming with life too small to be ... of bacteria can be found. Now scientists have ... own daily cyclesnot unlike the residents of a bustling ... eat at the same times., What,s more, it,s not ... energy to help them photosynthesize food from inorganic substanceshave ...
Breaking Biology News(10 mins):New optogenetic tool for controlling neuronal signalling by blue light 2Hunger for vegetable oil means trouble for Africa's great apes 2New research finds ocean's most abundant organisms have clear daily cycles 2New research finds ocean's most abundant organisms have clear daily cycles 3
... embryonic stem cell, which has the potential to become any ... of genes, proteins that bind DNA, and molecules that modify ... from MIT and the University of California at San Francisco ... cells into mature heart cells. The study, the first to ...
... A team of researchers that has been working ... within four years of a near-commercial-scale production level., The ... has received a $2 million National Science Foundation grant ... Devarenne, a Texas A&M AgriLife Research biochemist and collaborator ...
... ultrasound waves, MIT engineers have found a way to ... drug delivery more efficient. This technology could pave the ... to the researchers. "This could be used for ... systemic drugs and proteins such as insulin, as ...
Cached Biology News:Probing matters of the heart 2Probing matters of the heart 3Oil from algae closer to reality through studies by unique collaboration of scientists 2Oil from algae closer to reality through studies by unique collaboration of scientists 3Getting (drugs) under your skin 2Getting (drugs) under your skin 3
(Date:7/10/2014)... 10, 2014 /PRNewswire-iReach/ -- Tute Genomics, the ... announced an agreement with Lineagen, Inc., to ... NextStep Dx PLUS.  Lineagen, focused on ... disorders, currently offers FirstStep Dx PLUS, ... used by healthcare providers as a first-line ...
(Date:7/10/2014)... 2014 -- According to the International Atomic Energy ... comes from terrorists acquiring sufficient quantities of plutonium ... crude nuclear explosive device. The IAEA also notes ... involved gram-level quantities, which can be challenging to ... a new study appearing this week in the ...
(Date:7/10/2014)... published today in the journal PNAS (Proceedings of ... time of day and sleep deprivation have a significant ... when looking at the best time of day to ... and for administering medicines effectively. , Researchers from the ... London, investigated the links between sleep deprivation, body clock ...
(Date:7/10/2014)... our laptops and electric vehicles could store more energy ... help of a sponge-like silicon material. , Researchers ... used in one of the battery,s electrodes, as silicon ... of graphite. A paper describing the material,s performance as ... Nature Communications . , "Silicon has long been sought ...
Breaking Biology Technology:Tute Genomics Platform Selected to Provide Clinical Interpretation for Lineagen's NextStepDx PLUS Next-Generation Sequencing-Based Diagnostic Test 2Tute Genomics Platform Selected to Provide Clinical Interpretation for Lineagen's NextStepDx PLUS Next-Generation Sequencing-Based Diagnostic Test 3Tute Genomics Platform Selected to Provide Clinical Interpretation for Lineagen's NextStepDx PLUS Next-Generation Sequencing-Based Diagnostic Test 4Sensitive detection method may help impede illicit nuclear trafficking 2Time of day crucial to accurately test for diseases, new research finds 2Silicon sponge improves lithium-ion battery performance 2Silicon sponge improves lithium-ion battery performance 3
... security and compliance as their top issues, they dont see ... a big secret that few executives know about in most ... goes beyond knowing virus scans and firewalls. Security should be ... not a low-level function. , ,In several semesters of network ...
... and the progress of six regional firms were discussed on ... held at the Wisconsin Athletic Club. , ,Limited partners, portfolio ... in Milwaukee to hear a speech from Mark Hessen, president ... to updates from six firms that Mason Wells invests in. ...
... Care International Inc. announced on Wednesday that the U.S. Federal ... Bone Care have signed a definitive agreement for Genzyme ... at $33.00 per fully diluted share. The transaction ... at a meeting on June 30, and other customary ...
Cached Biology Technology:To find solid security candidates, look beyond tech certificates 2To find solid security candidates, look beyond tech certificates 3To find solid security candidates, look beyond tech certificates 4VC trends, company progress discussed at Mason Wells portfolio meeting 2VC trends, company progress discussed at Mason Wells portfolio meeting 3VC trends, company progress discussed at Mason Wells portfolio meeting 4
... Characteristics:, Antibody Binding: High, 400 ng ... volume) , Binding Interaction: Hydrophobic/Ionic , Performance ... (bottom): Flat , Maximum Well Volume: 360 ... tray ,Features, Special optically clear ...
...
...
... enables early selection of the best ... quantitative data for sensitivity, dynamic range, ... Furthermore quantitative antibody fingerprints can be ... your antibodies., The full-service package includes ...
Biology Products: