A University of Adelaide-led team of scientists has suggested a potential link between iron in our cells and the rare gene mutations that cause Alzheimer's disease, which could provide new avenues for future research.
Aug 14, 2018
0
13
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
A new computational method developed by researchers at the New York Genome Center (NYGC) allows scientists to identify rare gene mutations in cancer cells with greater accuracy and sensitivity than currently available approaches.
Mar 22, 2018
0
9
Researchers studying a rare genetic disorder that causes severe, progressive neurological problems in childhood have discovered insights into biological mechanisms that drive the disease, along with early clues that an amino ...
Feb 22, 2018
0
7
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
(HealthDay)—SERPINA1 DNA sequencing can identify alpha-1 antitrypsin deficiency (AATD), according to research published online Nov. 28 in the Annals of the American Thoracic Society.
Dec 12, 2017
0
28
Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) have found a new genetic marker that would explain up to 1.4 percent of inherited colon cancer cases not related to mutations currently associated with ...
Oct 11, 2017
0
2
Physicians are increasingly using genetic testing to unravel mysterious or rare diseases in patients with baffling symptoms. But untangling mystifying symptoms is only half the battle. The next frontier in genomic analysis ...
Sep 12, 2017
0
38
A gene called triggering receptor expressed on myeloid cells 2, or TREM2, has been associated with numerous neurodegenerative diseases, such as Alzheimer's disease, Frontotemporal lobar degeneration, Parkinson's disease, ...
Aug 30, 2017
0
4
Fanconi anemia is a rare genetic disease characterized by hematologic symptoms that include low platelet count and unusually large red blood cells. Mutations in nearly 20 genes have been identified as causative for Fanconi ...
Jul 10, 2017
0
66
