Genetics
Groundbreaking genetic discovery shows why Lupus develops
In a world first, researchers from The Australian National University (ANU) have shown previously ignored rare genetic mutations are a major cause of lupus.
May 17, 2019
1
12464
News tagged with rare genetic mutations
Alzheimer's disease & dementia
Researchers discover two, rare genes associated with Alzheimer's disease
Researchers have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.
Mar 29, 2019
1
494
Diseases, Conditions, Syndromes
How 'Stranger Things' widened awareness of a rare disorder
(HealthDay)—Teenage actor Gaten Matarazzo III was born with a rare genetic disorder that affects bone development. And ever since his Netflix series "Stranger Things" became a hit, public interest in the condition has shot ...
Feb 20, 2020
0
4
Genetics
Discovery may help to explain mystery of 'missing' genetic risk
A new study could help to answer an important riddle in our understanding of genetics: why research to look for the genetic causes of common diseases has failed to explain more than a fraction of the heritable risk of developing ...
Feb 13, 2014
0
0
Genetics
Australian breakthrough in stem cell kidney research
New research led by the Murdoch Children's Research Institute (MCRI), has combined gene editing technology with stem cell kidney regeneration to correct a patient's gene mutation.
May 4, 2018
0
67
Neuroscience
Neuroscientists find that two rare autism-related disorders are caused by opposing malfunctions in the brain
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
2
0
Genetics
Xeroderma pigmentosum study tests artificial antisense oligonucleotides as therapeutic
Genetic researchers at Nagoya University, Japan, have delved into the genetic underpinning of a rare skin condition affecting children that is unusually common in Japan.
Genetics
Beyond finding a gene: Same repeated stretch of DNA found in three neurodegenerative diseases
Families living with four extremely rare neurodegenerative diseases have finally learned the cause of their illnesses, thanks to a researcher's hunch and decades of improvements in DNA sequencing technology.
Jul 22, 2019
0
341
Genetics
Serotonin 2C receptor associated with obesity and maladaptive behavior
A collaborative study involving Baylor College of Medicine, the University of Cambridge and the University of Exeter Medical School reveals a new gene associated with obesity and maladaptive behavior. The evidence shows that ...
Dec 19, 2022
0
410
Genetics
Broad spectrum of autism depends on spectrum of genetic factors
Autism Spectrum Disorder (ASD) is referred to as a "spectrum" because clinical features of ASD range from mild social impairments in some people to severe intellectual disability or epilepsy in others. Genetic studies have ...
Jun 2, 2022
0
71
