Saudi scientists spot gene triggering neck, shoulder birth defect

[Mosamania]

Saudi scientists spot gene triggering neck, shoulder birth defect


Saudi researchers have claimed this week they have located a gene behind a defect that causes babies to be born with their head attached to their shoulders.

One in every 40,000 babies across the world is born with this condition, which is thought to be transferred through family.

Despite the odds, the defect has affected three individuals in one Saudi family, which include a 2-year-old daughter.

Researchers said the discovery could bring about a new life for the sufferers.

“Through reaching this family, we were able to spot a malfunction in the gene causing the defect,” a researcher told Al Arabiya in the Saudi capital of Riyadh.

Detecting this condition early on in pregnancy could possibly mean preventing this at birth, the researchers added.

Saudi scientists spot gene triggering neck, shoulder birth defect

 

[beast89]

this is not special tbh vast majority of geneticists could discovered this, all the genomes are known thanks to the human genome project. genetic screening was done and normal genes were compared to the one discovered in the family and considering the defect happened 3 times in the same family means its a dominant allele and hence even easier to link the abnormal genes in the family. Real credit would be given if the mechanism of the defect are elucidated and attempts to develop a theoretical therapy.....until then this will not light medical world on fire.

 

[Ayush]

good development.

 

[somebozo]

Due to tribal intermarriages the occurance of genetic faults is very high in Saudi population.

 

[al-Hasani]

Great news.

Due to tribal intermarriages the occurance of genetic faults is very high in Saudi population.

That's not correct at all. It's not higher than anywhere else in the Muslim world or the West. In fact the highest birth defects due to intermarriage among any Muslim population can be found in Pakistani (or was it Indian or Bengali?) communities in the UK. I don't remember the name of the city (maybe Luton) but I once read about it. It's definitely not KSA by any means.

Do you really live in KSA? All I see you doing is propagandizing against the country. No offense but is it not time to return to Pakistan then? Not sure if I want my country to host foreigners who are ungrateful/against KSA/Arabs.