Diseases, Conditions, Syndromes
What we know about South Africa's coronavirus variant
A new coronavirus variant discovered by South African scientists is fuelling a surge of infections nationwide and raising global concern.
Jan 12, 2021
0
4
Page 22 - News tagged with disease mutation
Oncology & Cancer
Study reveals distinct genomic landscape for young adults with appendiceal cancer
The first study to compare molecular landscapes of early-onset and late-onset appendiceal cancer has revealed distinct non-silent mutations in the tumors of younger patients, setting the stage for the development of potential ...
Dec 9, 2020
0
0
Neuroscience
Researchers link cases of ALS and FTD to a Huntington's disease-associated mutation
A study led by researchers at the National Institutes of Health has made a surprising connection between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two disorders of the nervous system, and the ...
Dec 4, 2020
0
56
Medical research
Researchers discover drug development target for retinal dystrophies
A team of LSU Health New Orleans researchers reports for the first time that deleting one of the inhibitors of the RPE65 gene in a mouse model that carries a human disease mutation prevents degeneration of cone photoreceptors ...
Dec 1, 2020
0
53
Genetics
Scientists identify new genetic MND risk factor in junk DNA
A new genetic risk factor for Motor Neurone Disease (MND), which if treated could halt or prevent the degenerative condition, has been identified in so-called 'junk DNA' by scientists at the University of Sheffield. The newly ...
Dec 1, 2020
0
43
Diseases, Conditions, Syndromes
Gene therapy gives man with sickle cell disease the chance for a better future
For Evie Junior, living with sickle cell disease has been like running a marathon.
Nov 30, 2020
0
2
Genetics
Children's Hospital Los Angeles conducts largest pediatric genomic COVID-19 study to date
When it comes to children, it is becoming clear that COVID-19 impacts them more than was initially realized. Yet there is relatively little information about SARS-CoV-2, the virus that causes the disease, in pediatric populations. ...
Nov 20, 2020
0
4
Genetics
CLCN6 identified as disease gene for a severe form of lysosomal neurodegenerative disease
A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and the Max Delbrück Center für ...
Nov 19, 2020
0
6
Medical research
A gene mutation that protects against disease
Canadian scientists looking at a rare genetic mutation think they may have discovered the proverbial fountain of youth. But it's not for everyone: so far, the mutation has only been found in a handful of French-Canadian families.
Nov 19, 2020
0
5
Cardiology
Cellular pathway of genetic heart disease similar to neurodegenerative disease
Research on a genetic heart disease has uncovered a new and unexpected mechanism for heart failure. This landmark discovery found a correlation between the clumping of RNA-binding proteins—long linked to neurodegenerative ...
Nov 19, 2020
0
3
