Mutation News and Research

RSS

Research reveals fundamental insights into the causes of severe birth defects

Research by Kai Jiao, M.D., Ph.D., and colleagues at the University of Alabama at Birmingham and in Germany has yielded fundamental insights into the causes of severe birth defects known as CHARGE syndrome cases. These congenital birth defects include severe and life-threatening heart malformations.

3 Dec 2020

A Gene Mutation That Protects Against Disease

Researchers think they have found a fountain of youth, and it is unique to a few French Canadian families.

3 Dec 2020

Scientists unlock new genetic variation in wheat and barley

An international research collaboration, including scientists from the University of Adelaide's Waite Research Institute, has unlocked new genetic variation in wheat and barley - a major boost for the global effort in breeding higher-yielding wheat and barley varieties.

27 Nov 2020

Researchers identify new gene involved in neurodevelopmental disorders

Researchers and physicians constantly search for novel disease genes that can allow them to figure out why medical problems are not diagnosed in patients.

24 Nov 2020

Genetic modification in the ‘coat’ of fatal brain virus may allow it to escape antibodies

A genetic modification in the 'coat' of a brain infection-causing virus may allow it to escape antibodies, according to Penn State College of Medicine researchers.

23 Nov 2020

Researchers identify rare genetic marker that protects against cardiovascular disease

According to researchers from McMaster University and the Montreal Clinical Research Institute, they have identified a “fountain of youth” in a rare genetic marker that is unique to a few French-Canadian families.

20 Nov 2020

Vibrational motions of spike proteins correlate with infectivity, lethality of SARS-CoV-2 virus

When someone struggles to open a lock with a key that doesn't quite seem to work, sometimes jiggling the key a bit will help. Now, new research from MIT suggests that coronaviruses, including the one that causes Covid-19, may use a similar method to trick cells into letting the viruses inside.

20 Nov 2020

Study identifies molecular mutation more common in African Americans with late-onset Alzheimer’s

Scientists have identified a molecular mechanism that leads to a “traffic jam” of enzymes, resulting in the accumulation of amyloid-beta.

19 Nov 2020

Somatic mutation acts as natural gene therapy in patients with GATA2 deficiency

Researchers affiliated with the Center for Cell-Based Therapy (CTC) in Ribeirão Preto, Brazil, have identified for the first time a non-hereditary mutation in blood cells from a patient with GATA2 deficiency, a rare autosomal disease caused by inherited mutations in the gene that encodes GATA-binding protein 2 (GATA2).

18 Nov 2020

Study: 95.5% of current entries in GISAID lack relevant COVID-19 patient information

A new study led by Australia's national science agency CSIRO, has found 95.5 per cent of current entries in GISAID, the world's largest novel coronavirus genome database, do not contain relevant patient information -- a critical piece of the puzzle to understand the virus and how it is evolving.

17 Nov 2020

Researchers identify potential genetic target for treating painful, invasive form of endometriosis

Michigan State University researchers have identified a potential genetic target for treating an especially painful and invasive form of endometriosis.

12 Nov 2020

Researchers discover new 'hidden' gene in SARS-CoV-2

Researchers have discovered a new "hidden" gene in SARS-CoV-2--the virus that causes COVID-19--that may have contributed to its unique biology and pandemic potential.

11 Nov 2020

Mutations in SARS-CoV-2 spike protein may improve monoclonal antibody resistance

A recent paper examines a mutation of the spike protein of SARS-CoV-2 that has been observed to have arisen independently twice.

10 Nov 2020

Unrelated mutations can lead to false positive results in men with advanced prostate cancer

Unrelated mutations, when present in the blood, can lead to false positive results in men with advanced prostate cancer who are undergoing liquid biopsies.

6 Nov 2020

Study provides key insight to better understand the development of Type 2 diabetes

Scientists have found that insulin has met an evolutionary cul-de-sac, limiting its ability to adapt to obesity and thereby rendering most people vulnerable to Type 2 diabetes.

6 Nov 2020

Developing a new method to reduce antibiotic resistance in waterways

Dr. Aimee Murray speaks to AZoLifeSciences about her latest research that looks at a way of reducing antibiotic resistance build-up in waterways.

4 Nov 2020

Study shows 1 in 8 cancer patients had inherited cancer-related gene mutation

Genetic testing can uncover inherited genetic mutations, and could individualize cancer therapies, improve survival, manage cancer in loved ones and push the boundaries of precision medicine.

3 Nov 2020

Checkpoint inhibitors offer a promising solution for hard-to-treat cancers

Cancer immunotherapies, which empower patients' immune systems to eliminate tumors, are revolutionizing cancer treatment. Many patients respond well to these treatments, sometimes experiencing long-lasting remissions. But some cancers remain difficult to treat with immunotherapy, and expanding the impact of the approach is a high priority.

2 Nov 2020

Scientists develop human airway stem cells to accelerate research on COVID-19, influenza

For the first time, researchers have successfully created airway basal stem cells in vitro from induced pluripotent stem cells by reprogramming blood cells taken from patients.

27 Oct 2020

Targeting DEL-1 molecule could be an effective way to treat autoimmune disease

Immune response is a balancing act: Too much can lead to inflammatory or autoimmune disease; too little could lead to a serious infection. Regulatory T cells, or Tregs, are important players in striking this balance, acting as "brakes" on the immune response so it doesn't go overboard.