A new genetic disease has been discovered by Indian doctors. The disease, called \u201cMultiple mitochondrial dysfuntion syndrome\u201d was discovered by doctors at the Department of medical genetics, Kasturba Medical College in Manipal.<\/p>\n
The new genetic disease has been found in four children from two different and unrelated families in Manipal. It was found that the kids-who have neurodevelopmental disorder have an early onset of neurological deterioration, seizures, cortical migrational abnormalities, extensive white matter abnormalities, lactic acidosis and early demise.<\/p>\n
The team behind the discovery included clinical geneticist Dr. Anju Shukla.<\/p>\n
They studied the two families with severe neurological disease in infancy. All the four affected kids dies early in their childhood. The team analyzed the DNA from the first family by exome sequencing. Later, with the aid of bioinformatics analysis, similarity was found in the affected family. The kids also showed severe white matter brain disease as well as defective functioning of mitochondria in cells.<\/p>\n
Dr H Vinod Bhat, VC, Manipal University appreciated the medical genetics department\u2019s efforts in discovering the genetic basis of human diseases. The team\u2019s recent work is now available online in the Journal of Human Genetics which is published by Nature Publishing Group.<\/p>\n
Another discovery made by the same team<\/em><\/strong><\/p>\n The same team has also identified a new bone disease. The disease is named \u2018short rib thoracis dysplasia type 16\u2019 and their work has been published in Online Mendelian Inheritance in Man(OMIM).<\/p>\n Image credits: asianscientist.com<\/em><\/p>\n","protected":false},"excerpt":{"rendered":" A new genetic disease has been discovered by Indian doctors. The disease, called \u201cMultiple mitochondrial dysfuntion syndrome\u201d was discovered by doctors at the Department of medical genetics, Kasturba Medical College in Manipal. The new genetic disease has been found in four children from two different and unrelated families in Manipal. It was found that the […]<\/p>\n","protected":false},"author":11,"featured_media":4338,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[1],"tags":[24,535,28],"class_list":["post-4337","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized","tag-doctor","tag-genetic","tag-india"],"yoast_head":"\n