Navigation Links
Gene linked to 'Missing Eye' condition in newborns

Bilateral Anophthalmia is a devastating condition, which is very rare, affecting approximately one in every 100,000 births. In this condition, babies are born without eyes i.e. they are born with empty eye sockets. This condition occurs due to the foetus not developing eyes in the normal way in the first 28 days of pregnancy. Babies born with this condition are often fitted with prosthetic eyes to allow normal facial// development.

Researchers from the Human Genetics Unit in Edinburgh who published their study in the journal Nature Genetics, have discovered that at least some of the babies born with this condition have their roots in a mutation of a gene called SOX2. The geneticists who tested the SOX2 gene in children born with the condition and found mutations in many of them, reassured parents that these genetic mistakes were not passed down from them. Instead, they are believed to have arisen spontaneously in either the egg or sperm involved.

Dr David Fitzpatrick, from the Human Genetics Unit, said that the research indicated that SOX2 plays a critical role in eye development and other genes that directly interact with SOX2 may be mutated in children affected with similar and more common conditions. The scientists involved in the study believed that this finding will help doctors understand anophthalmia better and also help patients with other degenerative eye conditions, such as retinal and macular degeneration, cataracts and glaucoma.


'"/>




Page: 1

Related medicine news :

1. El Ni?o cycles linked to cholera outbreaks
2. Cancers of Colon & Rectum linked to Cigarette Smoking
3. Gene linked to early puberty in girls
4. Maternal alcohol consumption linked to behavioral problems in children
5. Gene HPA-2 Met linked to cardiac arrest
6. Early puberty linked to nutrition
7. Alcohol linked to brain activity
8. Cement injections linked to osteoporosis
9. Asthma linked to obesity
10. Miscarriage linked to late embryos
11. Cirrhosis linked to genes
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:2/11/2016)... , ... February 11, 2016 , ... “ HEALING MIND ... through a Well Managed Mind” (published by Balboa Press) teaches readers how to become ... being through profound love, author Janice McDermott, M.Ed., LCSW, offers an understanding of how ...
(Date:2/11/2016)... Oregon (PRWEB) , ... February 11, 2016 , ... ... campus participated in the American Osteopathic Association’s (AOA) Match Program Tuesday, February 9, ... Match Program places students into osteopathic graduate medical education positions across the country. ...
(Date:2/11/2016)... Tampa, FL (PRWEB) , ... February 11, 2016 , ... ... Tampa Bay Lightning take on the St. Louis Blues at the Amalie Arena. The ... only portable, inflatable, walk-through heart exhibit, the MEGA Heart, prior to the game. The ...
(Date:2/11/2016)... ... , ... The president released a FY 2017 budget request on Tuesday that ... the cost burden to military beneficiaries. , MOAA’s president, retired Air Force Lt. ... including limited quantifiable benefit fixes mixed with numerous beneficiary fee hikes. , “We were ...
(Date:2/11/2016)... ... February 11, 2016 , ... Pediatric ... to improve care by making data on heart procedures public and easily understandable ... Transparency and Public Reporting of Pediatric and Congenital Heart Disease Outcomes will bring ...
Breaking Medicine News(10 mins):
(Date:2/12/2016)... 2016 Indiso ltd ... ungedeckten medizinischen Bedarf bei Lungen- und Atemwegserkrankungen ... Forschungsprogramms bekannt. Das Programm, das sich mit ... respiratorischen Funktionen und anderer klinischer Parameter. ... das sich auf den ungedeckten medizinischen Bedarf ...
(Date:2/11/2016)... Feb. 11, 2016 Stem cells are primitive ... by self-renewal and the capacity to differentiate into mature ... discovery, as the first mouse embryonic stem cells were ... until 1995 that the first culturing of embryonic stem ... were not produced until 2006 As a result of ...
(Date:2/11/2016)... , Feb. 11, 2016  Walgreens has committed ... 39 states and Washington, D.C. as ... move that was commended by shareholder advocacy organization As You ... As You Sow. "Many people hold on to unneeded drugs ... can have tragic consequences." --> Conrad MacKerron ...
Breaking Medicine Technology: