Mutation News and Research

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Researchers uncover a new cellular mechanism for disposing of misfolded proteins

About 30 years ago, Dr. Richard Sifers set out on a journey to discover why people with a rare condition known as alpha1-antitrypsin (AAT) deficiency present with high variation in the severity of liver disease.

21 Oct 2020

Chemist receives NIH grant to provide new framework for novel flu vaccines

Chemist Mahmoud Moradi has received a $422,579 grant from the National Institutes of Health to advance his work modeling hemagglutinin, the critical protein of the influenza virus.

19 Oct 2020

UNM researchers identify medications that could help fight COVID-19 infection

University of New Mexico researchers who combed through a "library" of previously approved drugs believe they have identified a medication with the potential to help speed a patient's recovery from SARS-CoV-2 infection.

19 Oct 2020

New tool can provide non-invasive decision support for treating lung cancer

Personalized treatment options for patients with lung cancer have come a long way in the past two decades. For patients with non-small cell lung cancer, the most common subtype of lung cancer and the leading cause of cancer-related death worldwide, two major treatment strategies have emerged: tyrosine kinase inhibitors and immune checkpoint inhibitors.

19 Oct 2020

Researchers discover how specific molecules promote cancer progression

The development of cancer is a highly complicated process, involving multiple genes and signaling pathways that become upregulated or downregulated throughout different stages of tumor growth and spread. Two of the most commonly altered genes in cancer are p53 and AKT.

16 Oct 2020

Study offers renewed hope for children suffering from myofibrillar myopathies

Stephen Greenspan and Laura Zah were devastated when they learned their son Alexander had a rare genetic mutation, which causes a deadly neuromuscular disease with no known treatment or cure.

15 Oct 2020

Researchers discover new gene involved in the architecture of grass inflorescence

The “spikelet meristem,” or SM for short, has a crucial role to play during the development of the grass inflorescence.

14 Oct 2020

Study could explain why some people are severely affected by Bardet-Biedl syndrome

Geneticists usually split disorders into “simple”, where mutations in several genes contribute modest quantities.

13 Oct 2020

VAV1 gene mutations may promote growth of T-cell tumors in laboratory mice

Life is an exquisite orchestration of growth and change, with checks and balances that fine-tune complex entwined interactions, both intrinsic and external.

13 Oct 2020

Study shows thymoquinone compound selectively kills prostate cancer cells

According to a new study reported in the Oncogene journal, the thymoquinone (TQ) compound selectively destroys prostate cancer cells at advanced phases.

9 Oct 2020

Study offers new treatment strategies for HIV

According to a new study, immune cells that can detect residual HIV-infected cells in patients living with HIV and undergoing ART continue to remain active.

8 Oct 2020

Cancer mutations occur in distinct patterns based on 3D structure of the genome

A new study from researchers at The University of Texas MD Anderson Cancer Center has discovered that mutations found in cancers do not accumulate randomly, but are found in distinct patterns that vary based on the three-dimensional organization of the genome in the cell as well as the underlying factors causing the mutations.

6 Oct 2020

Vacuolar Tauopathy: New, rare genetic form of dementia discovered

A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers. This discovery also sheds light on a new pathway that leads to protein build up in the brain -- which causes this newly discovered disease, as well as related neurodegenerative diseases like Alzheimer's Disease -- that could be targeted for new therapies. The study was published today in Science.

5 Oct 2020

Epigenetic alterations drive late-onset Alzheimer's disease

New findings suggest that late-onset Alzheimer's Disease is driven by epigenetic changes -- how and when certain genes are turned on and off -- in the brain. Results were published today in Nature Genetics.

29 Sep 2020

Cocaine addiction: Impact of genetic mutations elucidated

Cocaine addiction is a chronic disorder with a high rate of relapse for which no effective treatment is currently available.

28 Sep 2020

Researchers identify risk factors for COVID-19 mortality

Scientists have proposed that carriers of two genetic mutations PiS and PiZ face a greater risk for severe illness and even death from COVID-19 disease.

25 Sep 2020

Study may help develop new immunotherapies for different types of tumors

A team of researchers have plotted the genes that enable cancer cells to avoid being destroyed by the immune system.

From University of Toronto 25 Sep 2020

Study identifies genetic mutation linked with fibromuscular dysplasia

Understanding of fibromuscular dysplasia (FMD), a rare blood vessel disease, is making the jump from the laboratory to the clinic with new findings about a genetic variant.

25 Sep 2020

Computational model effectively identifies genetic mutations in breast tumors

Researchers at Lund University in Sweden have developed a computational model which is effective in detecting and identifying genetic mutations in breast tumors. The study, the largest of its kind in the world, includes results from over 3 200 patients with breast cancer.

25 Sep 2020

Researchers discover novel genes for human deafness in Israeli families

Until now, seven genes were known to be involved in hearing loss in Israel's Jewish population. A new study led by Zippora Brownstein, PhD, and Prof. Karen Avraham from the Sackler Faculty of Medicine at Tel Aviv University has found that 32 genes are responsible for inherited hearing loss in Israeli Jewish families.

24 Sep 2020