Scientists uncover genetic cause of rare autoimmune disorder
WEB16 hours ago · Credit: Unsplash/CC0 Public Domain. A team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, according to a study recently published in ...
Scientists identify a genetic disorder that may cause ... - NBC News
WEBMay 31, 2024 · A newly identified neurodevelopmental disorder may explain tens of thousands of cases of intellectual disability whose cause was previously unknown, according to a new study.
Scientists found a way to restore brain cells impaired by a rare ... - NPR
WEBApr 24, 2024 · Scientists have found a way to restore brain cells impaired by a rare genetic disorder called Timothy syndrome. NPR's Jon Hamilton reports the method offers hope for treating a wide range of...
8 New Genetic Mutations Linked to Rare Cognitive Disorder …
WEB5 days ago · CSF1R-Related Disorder is a rare genetic condition causing cognitive decline. Mayo Clinic researchers recently identified eight new mutations, paving the way for personalized treatments and improved diagnosis. Further research is needed to enhance genetic counseling and develop interventions for …
Study reveals molecular mechanism of genetic variant that causes …
WEB13 hours ago · Mirror movement disorder is a poorly understood hereditary neurological disorder that manifests itself in involuntary movements from an early age, mainly in the arms and hands. In those affected ...
CRISPR Gene-Editing Breakthrough Opens Door To Treating Broad …
WEBJun 26, 2021 · Scientists successfully treated a rare disease with the experimental gene-editing technique. It could open the door to new ways of treating more common disorders in the future.
Scientists restore brain cells impaired by a rare genetic disorder - NPR
WEBApr 30, 2024 · Scientists have found a way to restore brain cells impaired by a rare and life-threatening genetic disorder called Timothy syndrome. A type of drug known as an antisense oligonucleotide allowed...
Experimental gene therapy restores some vision in patients with ...
WEBMay 6, 2024 · The trial, which started in 2019, enrolled 12 adults, ages 17 to 63, and two children, ages 9 and 14, with inherited retinal degeneration caused by mutations in the CEP290 gene. That gene...
The first gene-editing treatment: 10 Breakthrough Technologies …
WEBJan 8, 2024 · The first gene-editing treatment: 10 Breakthrough Technologies 2024. Sickle-cell disease is the first illness to be beaten by CRISPR, but the new treatment comes with an expected price tag of...
Largest-Ever Study Reveals Hidden Genetic Causes of Developmental Disorders
WEB4 days ago · Researchers identified several genes, including KBTBD2, CRELD1, and ZDHHC16, newly associated with developmental disorders, providing answers for previously undiagnosed families. They also estimate that around 12.5 percent of patients may have multiple genetic factors contributing to their condition, highlighting the complexity of these disorders.