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Jul 13, 2022

Global team of scientists discover new gene causing severe neurodevelopmental delays

Posted by in categories: biotech/medical, genetics

The Neuro-Network.

𝐆𝐥𝐨𝐛𝐚𝐥 𝐭𝐞𝐚𝐦 𝐨𝐟 𝐬𝐜𝐢𝐞𝐧𝐭𝐢𝐬𝐭𝐬 𝐝𝐢𝐬𝐜𝐨𝐯𝐞𝐫 𝐧𝐞𝐰 𝐠𝐞𝐧𝐞 𝐜𝐚𝐮𝐬𝐢𝐧𝐠 𝐬𝐞𝐯𝐞𝐫𝐞 𝐧𝐞𝐮𝐫𝐨𝐝𝐞𝐯𝐞𝐥𝐨𝐩𝐦𝐞𝐧𝐭𝐚𝐥 𝐝𝐞𝐥𝐚𝐲𝐬

𝘼𝙣 𝙞𝙣𝙩𝙚𝙧𝙣𝙖𝙩𝙞𝙤𝙣𝙖𝙡 𝙩𝙚𝙖𝙢 𝙤𝙛 𝙧𝙚𝙨𝙚𝙖𝙧𝙘𝙝𝙚𝙧𝙨 𝙡𝙚𝙙 𝙗𝙮 𝙐𝘾 𝘿𝙖𝙫𝙞𝙨 𝙜𝙚𝙣𝙚𝙩𝙞𝙘𝙞𝙨𝙩 𝙎𝙪𝙢𝙖 𝙎𝙝𝙖𝙣𝙠𝙖… See more.


An international team of researchers led by UC Davis geneticist Suma Shankar has discovered a new gene implicated in a neurodevelopmental condition called DPH5-related diphthamide-deficiency syndrome. The syndrome is caused by DPH5 gene variants that may lead to embryonic death or profound neurodevelopmental delays.

Findings from their study were published in Genetics in Medicine.

“We are so excited about the novel gene discovery,” said the lead author Suma Shankar, professor in the Departments of Pediatrics and Ophthalmology and faculty at the UC Davis MIND Institute. Shankar is the director of Precision Genomics, Albert Rowe Endowed Chair in Genetics, and chief of Division of Genomic Medicine.

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