HOME >> BIOLOGY >> NEWS
'Lucky 13' as new gene discovery offers further hope for childhood blindness

h a highly evolved structure on one end (the outer segment) which detects light and sends signals to the brain, a function requiring a large amount of energy.

"LCA is usually a disease where protein function has been lost completely, but carriers of just one copy of the mutation, who will almost certainly have reduced protein levels, nevertheless function perfectly normally," explains Professor Inglehearn. "This being the case, restoration of even a tenth of the missing protein may be enough to restore vision. So our findings, together with the recently announced clinical trials, hold great promise."

Mutations in LCA5 are relatively rare. As it is a recessive gene, a child would need to be carrying two copies of the gene to develop LCA, one from each parent. However, the disorder is more common within populations where marriage to first or second cousins is common, such as the Pakistani community.

"If a parent is found to carry a mutation in the LCA5 gene, the risk of blindness in their children and grandchildren is still virtually zero as long as the other parent does not carry it," says Professor Inglehearn. "The odds of two parents both carrying the same or different mutations in the LCA5 gene is very low, but this increases where the parents are related."

Professor Inglehearn hopes that the findings will be useful to inform and counsel the families most at risk, particularly within the Pakistani communities both in the UK and Northern Pakistan.

The findings have been welcomed by Bruce Noble from Yorkshire Eye Research, which part-funded the research.

"Obviously we have to be careful how we interpret these results, as finding the genes doesn't automatically lead to a cure," says Mr Noble. "Nevertheless, this new result tells us something very important about what the eye is doing normally and about a new and common way in which it can go wrong. Given some exciting recent developments on testing possible
'"/>

Contact: Craig Brierley
c.brierley@wellcome.ac.uk
44-207-611-7329
Wellcome Trust
11-Jun-2007


Page: 1 2 3

Related biology news :

1. Enzyme discovery sheds light on vitamin D
2. New proteomics research promises to revolutionize biomedical discovery
3. MU researchers make discovery in molecular mechanics of phototropism
4. International team to honor 30th anniversary of deep-sea vent discovery in Galpagos
5. Screening approach leads to discovery of gene linked to breast cancer
6. Plants that produce more vitamin C may result from UCLA-Dartmouth discovery
7. Biting discovery: MU entomologist finds host of new aquatic insect species in Thailand
8. J&JPRD discovery may lead to new treatments for chronic sensitivity, pain caused by cold
9. Protein enables discovery of quantum effect in photosynthesis
10. Unicellular microRNA discovery
11. Jefferson researchers discovery may change thinking on how viruses invade the brain

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:7/1/2020)... ... July 01, 2020 , ... Catalent, a global ... of Teva-Takeda Pharmaceuticals’ packaging facility in Minakuchi, located in the Shiga prefecture of ... located in Kakegawa, the new 60,000-square-foot facility will provide customers with flexible clinical ...
(Date:6/25/2020)... ... June 24, 2020 , ... eClinical Solutions ... data services that accelerate drug development, is collaborating with Karyopharm Therapeutics (Nasdaq: ... hospitalized patients with severe COVID-19. This is the first study of an XPO1 ...
(Date:6/23/2020)... ... June 23, 2020 , ... ... pleased to announce the next event in a series of TOPIQ webinars, which ... TOPIQ series of webinars was developed in response to social distancing measures that ...
Breaking Biology News(10 mins):
(Date:7/31/2020)... MIAMI (PRWEB) , ... July 29, 2020 , ... ... nearly 200 of the top radiation centers in 16 countries, has reached its ... years, SDX® is now in routine use at top universities including University of ...
(Date:7/18/2020)... ... July 16, 2020 , ... ... in the early detection and prevention of high-burden diseases, and Centric Consulting, a ... and healthcare organizations to utilize existing data in order to identify and prioritize ...
(Date:7/10/2020)... ... July 09, 2020 , ... Sentien Biotechnologies, Inc., a ... of Allen R. Nissenson, M.D., F.A.C.P., as its Chief Medical Officer. Dr. ... lead product, SBI-101. Dr. Nissenson serves as an Emeritus Professor of Medicine ...
(Date:7/1/2020)... ... June 30, 2020 , ... ... that the launch of a new clinical diagnostics immuno-oncology service, TissueInsight ... microenvironment (TME). , “Flagship’s TissueInsight is a service that aids pathologists, oncologists, ...
Breaking Biology Technology:
Cached News: