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 gene 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
Oncology & Cancer
Gene involved in colorectal cancer also causes breast cancer
Rare mutations in the NTHL1 gene, previously associated with colorectal cancer, also cause breast cancer and other types of cancer. Researchers from Radboud university medical center, Leiden University Medical Center and ...
Feb 12, 2019
0
11
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
Genetics
Epigenetic alteration of a vitamin B12 gene shines new light on our understanding of rare diseases
Rare hereditary recessive diseases were thought to be expressed in off-spring only when both parents carry a mutation in the causal gene, but a new study is changing this paradigm. An international research team led by scientists ...
Jan 30, 2018
0
541
Genetics
Study reveals unique molecular machinery of woman who can't feel pain
The biology underpinning a rare genetic mutation that allows its carrier to live virtually pain-free, heal more rapidly and experience reduced anxiety and fear, has been uncovered by new research from UCL.
May 23, 2023
1
474
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
Mutant gene stops at-risk people from getting Alzheimer's: Could it lead to treatment?
The APOE4 gene is the most powerful genetic factor driving a person's risk for developing late-onset Alzheimer's disease.
Jun 1, 2022
0
105
Oncology & Cancer
Taking aim at rare cancer variants
If you walked into a cancer clinic ten years ago as a newly diagnosed patient, you'd likely get "standard of care" treatment based on the location of the cancer in your body and its stage. Make that same visit today and your ...
Jul 29, 2016
0
101
