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:4/28/2017)... ... April 28, 2017 , ... Semrock’s highly popular SearchLight ... online modeling resource for fluorescence microscopists and optical system designers, enabling The Right ... years spanning the globe, SearchLight has become a tremendously popular tool for the ...
(Date:4/27/2017)... Austin, TX (PRWEB) , ... April 27, 2017 ... ... released its all natural deodorant. On the heels of Thinksport’s award-winning sunscreen they’ve ... safe, non-toxic deodorant that actually works! , Countless deodorants flood the aisles that ...
(Date:4/27/2017)... ... April 27, 2017 , ... Offering the purest product ... oil many times purer and more potent than the market has seen before. Swissx ... Switzerland, as well as a patented chromatography process for extraction, to produce its CBD ...
(Date:4/26/2017)... ... 26, 2017 , ... Journal of Oral Implantology – Tooth loss ... overall dental health, including complications with speech, eating, and overcompensation of mouth due to ... lost teeth. As the number of tooth replacements increase, it is imperative to design ...
(Date:4/26/2017)... TX (PRWEB) , ... April 26, 2017 , ... ... confer the distinction of Customer Excellence upon National Registry of Emergency Medical ... “Customer Engagement drives Financial Performance,” said Dr. Jan G. West, Ph.D. , ...
Breaking Medicine News(10 mins):
(Date:4/24/2017)... England , April 24, 2017 ... development, today announced the addition of a major ... ,Validated In-situ Plate Seeding,). The VIPS has been ... and 384 well microplates as part of the ... system offers a simple and more reliable solution ...
(Date:4/20/2017)... 2017 Research and Markets has ... and Market Prospects: Addressing Production Complexities Through Risk Management ... ... Biosimilar Pipeline and Market Prospects: Overcoming Production Complexities Through ... assessment of the current trends in the global biosimilars ...
(Date:4/20/2017)... -- AbbVie (NYSE: ABBV), a global biopharmaceutical company, today ... C virus (HCV) infected patients with genotype 1, ... (Child-Pugh A) achieved sustained virologic response at 12 ... pan-genotypic regimen of glecaprevir/pibrentasvir (G/P). These high SVR ... of G/P treatment without ribavirin. Patients with specific ...
Breaking Medicine Technology: