A chemical modification of RNA that can be influenced by diet appears to play a key role in polycystic kidney disease, an inherited disorder that is the fourth leading cause of kidney failure in the U.S., UT Southwestern ...
Apr 14, 2021
0
34
A multi-institutional research group has succeeded in developing an exon-skipping therapy using nucleic-acid therapeutics for Alport syndrome, an incurable kidney disease that can progress to renal failure. Disease model ...
Jun 25, 2020
0
2
Indian surgeons have cut a kidney weighing the same as a bowling ball out of a man with a life-threatening genetic condition, a surgeon said Monday.
Nov 25, 2019
0
3
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts, as well as abnormalities outside the kidneys, including brain aneurysms—or weaknesses in blood vessels in ...
Jul 30, 2019
0
133
Researchers from Columbia University have developed a new technique for the powerful gene editing tool CRISPR to restore retinal function in mice afflicted by a degenerative retinal disease, retinitis pigmentosa. This is ...
May 11, 2018
0
3
Scientists at Osaka University developed a new drug treating skin lesions in tuberous sclerosis complex (TSC), a rare intractable disease, a world first. Following the physician-led clinical studies I and II by Osaka University, ...
Apr 5, 2018
0
6
Medullary cystic kidney disease type 1 (MCKD1) is a rare genetic kidney disease. Despite this, because it is an autosomal dominant disease, once the mutation is in a family, many family members are affected. Current diagnostic ...
Jun 14, 2017
0
19
A multicenter study led by the University of Alabama at Birmingham has found a biomarker identified via electroencephalography, or EEG, that is 100 percent predictive for seizures in infants with tuberous sclerosis complex. ...
Nov 3, 2015
0
1665
New research at the University of Kent has identified karyomapping as a viable and cost-effective method of detecting a wide range of genetic diseases in IVF embryos.
Jan 9, 2015
0
19
(HealthDay)—For patients with suspected genetic disorders, whole-exome sequencing identifies the underlying genetic defect in 25 percent of cases, according to a study published online Oct. 2 in the New England Journal ...
Oct 3, 2013
0
0
