The Shafallah Center for Children with Special Needs, under the patronage of
H H Sheikha Mozah bint Nasser Al Missned, has made a ground-breaking scientific discovery, carving a niche for Qatar in the world of genetics.
The Shafallah Medical Genetics Center (SMGC) has identified the gene responsible for the genetic disorder autosomal recessive isolated ecotpia lentis.
Ectopia lentis is a genetic eye disease that leads to visual impairment. It is defined as displacement or malposition of the crystalline lens of the eye from its normal location. This is caused due to the severing of the suspensory mechanism of the eye lens.
A research team based at the SMGC conducted a year long research and was presented at two international conferences, and published in the American Journal of Human Genetics. SMGC has state-of-the-art facilities and is based at the Shafallah Center with a sizable team of researchers.
“This is a world class achievement for the Shafallah Medical Genetics Center,” said Hassan Ali bin Ali, Chairman of the Shafallah Center for Children with Special Needs. “Although rare, Ectopia lentis is a significant eye disease and this discovery opens venues for better understanding of this disorder; we are so proud that this discovery happened here.”
With the publication of the result, SMGC has become the site for genetic testing center for this gene and disorder, which promotes its position as a comprehensive genetic center of excellence regarding childhood genetic diseases.
Ectopia lentis is a rare condition. Incidence in the general population is unknown. Patients with ectopia lentis commonly present with a marked loss in visual activity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment.
The disease is often linked to many systemic disorders Marfan syndrome, Homocystinuria, Weill-Marchesani syndrome, Sulfite oxidase deficiency and Hyperlysinemia. Lens dislocation occurs in about 75 percent of patients with Marfan syndrome and in 90 percent cases of Homocystinuria.
“The maximum chance of inheritance of the disease is 25 percent even in consanguineous cases. Surgery can help to correct the vision to an extent. Early diagnosis can help in better results from surgery,” Hatem El Santi, Director of SMGC told The Peninsula.
The research concludes that mutations in ADAM TSL 4 gene are responsible for autosomal recessive simple ectopia lentis. This could mean that the gene plays an important role in the development of the zonular fibers which hold the lens in place. With the collaboration of Qatar University, the center will conduct more researches in to the gene.
There are multiple advertising possibilities with the ILQ network, drop us an e-mail at [email protected] for inquiries!
If you have anything you want to share with us, send us an e-mail at [email protected]!
Want to send a tip? Drop us an e-mail at [email protected], anonymity is guaranteed!
You have successfully registered your account!Please confirm your e-mail address by clicking on the URL sent to you.The e-mail usually arrives in 5-10 minutes.
Salam! Welcome to our brand new site! Looking good huh?
We’ve got loads of cool new features and to help make sure your account is secure, you’ll need to reset your password the first time you log in.
New to ILQ? What are you waiting for? Sign up!
How ajeeb was that!? Thanks for contributing to our community! Your post will appear after we take a quick look!