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What are variants? We asked Divya Shah, Epidemics Research Lead, to explain how variants happen, what they mean for treatments and vaccines—including for COVID-19—and how we can prevent them. What are mutations, variants and strains? Although the terms viral mutants, variants and strains are often used interchangeably, they generally hold different meanings. To spread, a […]
Colorectal cancer is the third most common form of cancer. While 90% of cases are in people older than 50, there is an as-yet unexplained rising incidence in younger people. Family history ranks high among risk factors for developing colorectal cancer, and people with such a history are often advised to get more frequent screening […]
Two mutations identified in individuals with developmental and epileptic brain disease can be traced back to the same ion channel. Researchers have now elucidated how both independent mutations affect the channel’s function: by making it overly active and highly sensitive to stimulation. The findings are an important step towards unraveling what causes the patients’ symptoms. […]
Myeloproliferative neoplasms are blood diseases that affect the normal production of blood cells in the bone marrow. According to the World Health Organization (WHO) classification, myeloproliferative neoplasms are divided into 4 major types. These include chronic myeloid leukemia, polycythemia vera, essential thrombocythemia, and primary myelofibrosis. Over the last several years, there have been new research […]
New insights into the journey from health to disease in the human liver have been made by scientists at the Wellcome Sanger Institute, Cancer Research UK Cambridge Institute, the University of Cambridge and their collaborators. In the largest study of its kind, the team documented in unprecedented detail how the accumulation of changes in our […]
Researchers have generated a long list of genetic mutations linked to cancer, but sorting out which ones really drive tumors to grow uncontrollably and which ones don’t has been a challenge. A new mathematical model developed by researchers at the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) could help with this […]
Mutations in a gene known as interferon regulatory factor 6 (IRF6) that cause cleft lip and palate also are implicated in neural tube defects such as spina bifida, suggests research by an international study team published online Jan. 25, 2019, in Human Molecular Genetics. In the first weeks of fetal development the neural plate curves, […]
The technique is aimed at easing a frustrating problem in genetic testing. (AP) NEW YORK – Scientists say they’ve found a new way to help determine whether specific genetic abnormalities are likely to make people sick, a step toward avoiding a vexing uncertainty that can surround DNA test results. Researchers used genetic engineering to create […]
A new diagnostic test developed at A*STAR is helping researchers around the world identify gene mutations that put people at risk of severe eczema and other chronic skin diseases. The skin’s outer layer forms a protective barrier against the external environment, thanks to a gene called FLG. People lacking a functional copy of this gene, […]
The rarity of appendix cancer, accounting for less than 1 percent of tumors that originate in the gastrointestinal tract, and the lack of scientific data for this disease means that current treatment guidelines recommend applying therapies to people with appendix cancer that are intended for those with colon cancer. To understand why some patients with […]