Pakistani researcher solves anthropological and medical puzzle

[A1Kaid]

New glaucoma research solves anthropological and medical puzzle

Source: umm.edu


April 15, 2009


Scientists studying a rare form of glaucoma have discovered why people in the disparate Roma communities are at greater risk of inheriting a condition leading to permanent blindness than other groups in the population. Primary congenital glaucoma (PCG) is a devastating condition affecting 1 in every 1000 Romany people. Researchers at the University of Leeds, looking to uncover the cause, found a single gene mutation repeatedly appearing in affected families. An international collaboration led by Dr Manir Ali of the Leeds Institute of Molecular Medicine, first identified the ‘Jatt’ mutation in one of four Pakistani families. Further study amongst Roma populations in Europe showed that the same mutation accounted for nearly half of all cases of PCG in that community. Dr Ali’s research also confirms the widely accepted view that the Roma originated from the Jatt clan of Northern India and Pakistan and not from Eastern Europe as previously believed. Dr Ali said: “Glaucoma is the leading cause of preventable blindness worldwide and we are now looking at this same gene to see if changes in it are also found in patients with the more common form of glaucoma, primary open angle glaucoma (POAG) or chronic glaucoma, which affects so many older people. “It is hoped that our research, which looked at a relatively rare form of the disease, can help medical professionals address the health needs and find ap

Read more at: New glaucoma research solves anthropological and medical puzzle

 

[PITA]

Hmmm, I see. They must have spent a lot of time weeding through a lot of research.

 

[SHAMK9]

Congrats Pakistan

 

[A1Kaid]

This is amazing, researchers found a single gene mutation which is responsible for triggering glaucoma.

Congrats Pakistan

I hope you actually read the article and not just congratulating because a Pakistani researcher made the discovery. If you read it then good.

 

[SHAMK9]

I hope you actually read the article and not just congratulating because a Pakistani researcher made the discovery. If you read it then good.

Did go through the article, its very old though.

 

[A1Kaid]

Did go through the article, its very old though.

It's recent research, research considered 5 years or more old is considered "old" by most Universities at least here.

 

[A1Kaid]

What Dr. Manir Ali should try to do now if he isn't doing that already is try to turn that gene mutation off they can either prevent DNA transcription of that particular gene or better yet use Transcription Factors using corepressors causing downregulation of that particular gene.

 

[A.Rafay]

Great achievement by Pakistani researchers. Hope we do more development in these fields, good luck.

 

[A1Kaid]

Glaucoma can now be prevented through in future generations using gene therapy now that the gene mutation responsible for trigger glaucoma in many patients has been discovered. So patients with glaucoma should undergo gene therapy so that their children do not inherit the mutated gene causing this disease.

Great job by Dr. Manir Ali and all researchers involved in the breakthrough research and discovery in ophthalmological medicine.