As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis.
Sep 29, 2013
0
0
Like cartographers completing a map, investigators have identified multiple new subtypes of the most common childhood cancer—research that will likely improve the diagnosis and treatment of high-risk patients. St. Jude ...
Jan 14, 2019
0
25
It turns out that the type, how frequent, and where new mutations occur in the human genome depends on which DNA building blocks are nearby, found researchers from the Perelman School of Medicine at the University of Pennsylvania ...
Feb 19, 2016
0
81
Base editing is a novel gene editing approach that can precisely change individual building blocks in a DNA sequence. By installing such a point mutation in a specific gene, an international research team led by the University ...
May 19, 2021
0
53
Using a virus to purposely mutate genes that produce cancer-driving proteins could shed light on the resistance that inevitably develops to cancer drugs that target them, a new study led by UT Southwestern scientists suggests. ...
Aug 10, 2021
0
118
According to the World Health Organization (WHO), this musculoskeletal disorder affects approximately 1.71 billion people globally. Osteoarthritis is a condition where cartilage gradually breaks down, and joint bones are ...
Nov 24, 2023
0
26
Many of the diseases caused by point mutations have no established therapeutic approaches. Prof. Tsukahara and colleagues (Japan Advanced Institute of Science and Technology) are studying a therapeutic method using artificial ...
Jul 9, 2020
0
4
The enzyme TBK1 is an important component of the innate immune system that plays a critical role in the defense against viruses. Upon mutation-induced loss of TBK1 function, patients show an increased susceptibility to viral ...
Mar 10, 2023
0
24
A mutation on the surface of human red blood cells provides protection against malaria caused by the parasite Plasmodium vivax, research led by Case Western Reserve University School of Medicine shows.
Dec 1, 2011
0
0
Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the peripheral nerves in humans, affecting 1 in every 2,500 people. There is no cure for the disease, which causes severe disability due to disruptions ...
Aug 26, 2019
0
7
