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:

(Date:6/24/2016)... ... June 24, 2016 , ... June 19, 2016 is World Sickle Cell Observance ... and the benefits of holistic treatments, Serenity Recovery Center of Marne, Michigan, ... Disease. , Sickle Cell Disease (SCD) is a disorder of the red blood cells, ...
(Date:6/24/2016)... ... June 24, 2016 , ... ... Scientific Sessions in Dallas that it will receive two significant new grants to ... came as PHA marked its 25th anniversary by recognizing patients, medical professionals and ...
(Date:6/24/2016)... ... 24, 2016 , ... Dr. Amanda Cheng, an orthodontist ... has extensive experience with all areas of orthodontics, including robotic Suresmile technology, ... , Micro-osteoperforation is a revolutionary adjunct to orthodontic treatment. It can be used ...
(Date:6/24/2016)... ... 2016 , ... Topical BioMedics, Inc, makers of Topricin and MyPainAway Pain Relief Products, join The ... raise to $12 an hour by 2020 and then adjusting it yearly to increase at ... the minimum wage, assure the wage floor does not erode again, and make future increases ...
(Date:6/24/2016)... ... June 24, 2016 , ... EB Medicine presented its ... Emergency Medicine conference in Ponte Vedra Beach, FL. The awards honor the outstanding ... Medicine Practice and Pediatric Emergency Medicine Practice. , “With this award, we ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... PARK RIDGE, Ill. and INDIANAPOLIS ... caliber of students receiving a Lilly Diabetes Tomorrow,s Leaders ... hands. The 2016 scholarship winners, announced today online at ... refused to let type 1 diabetes stand in the ... Lilly Diabetes has supported the Foundation,s scholarship program since ...
(Date:6/23/2016)...  Guerbet announced today that it has been named ... . One of 12 suppliers to receive ... support of Premier members through exceptional local customer service ... to lower costs. ... outstanding customer service from Premier," says Massimo Carrara ...
(Date:6/23/2016)... Tenn. , June 23, 2016 /PRNewswire/ ... automating, integrating and transforming the patient payment ... of several innovative new products and services ... of its revenue cycle offerings. These award-winning ... more efficient workflows, remain compliant in an ...
Breaking Medicine Technology: