Follow us on
Welcome Guest! You are here: Home » Health
Researchers identify gene that causes rare disorder Opitz C syndrome

Monday March 13, 2017 8:20 PM, ANI

Washington: A team of researchers has identified the gene that causes Opitz C syndrome in the only patient diagnosed with this ultra-rare disorder in Catalonia.

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world.

The finding from the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) are a first step to discover the genetic bases of this syndrome which, so far, does not offer treatment possibilities, prenatal diagnosis or genetic counseling.

According to Luis Serrano, director of CRG, "projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases. To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases.

It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective" concluded the researcher.

The study is published in the journal Scientific Reports.

 

 


Share this page
More Headlines
'Pink noise' can help oldies sleep their way to better memory
Third time MLA Raziya Sultana is only Muslim legislator in 117-member Punjab Assembly
Pilgrims on Umrah likely to get extended visa, chance to visit other cities in Saudi Arabia
Manohar Parrikar back in Goa as Chief Minister
Manipur: Congress MLA, lone Trinamool Congress legislator join BJP: Himanta Biswa Sarma
Prime Minister Modi asks people to pledge to create 'New India' by 2022
Muslim votes went to BJP, Shaista Amber and Mayawati both believe so, but for different reasons
60-member Manipur Assembly will have 03 Muslim MLAs
BJP majority Uttar Pradesh Assembly to have 24 Muslim MLAs, second fewest in its history
Netherlands detains Turkish minister, forcibly deports her to Germany
End of ‘Kamandal’ vs ‘Mandal’ Politics in Uttar Pradesh
Dr Mohd Ayub of Peace Party loses in Khalilabad; Zafar Alam of SP dislodged in Aligarh
Tasleem Ahmad, Masood Akhtar of SP among winners in Uttar Pradesh
Mohammad Abdullah, 26-yr-old son of SP stalwart Azam Khan, wins 2017 UP elections
Mukhtar Ansari wins from Mau, Haji Ikram Qureshi romps home Moradabad Rural
Imran Masood of Congress loses Nakur seat to BJP by 4,000 votes
Sibgatullah Ansari of BSP loses Mohammadabad seat to BJP in straight fight
Senior SP leader Azam Khan wins Rampur assembly seat by over 45,000 votes
Nahid Hasan of Samajwadi Party defeats BJP candidate in Kairana, Uttar Pradesh
Brijesh Singh of BJP defeats Maviya Ali in Muslim dominated Deoband, Uttar Pradesh

 Post Comments
Note: By posting your comments here you agree to the terms and conditions of www.ummid.com