Mutation News and Research

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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.

27 Oct 2020

Scientists explain the role of transcription factors in genetic diseases

Transcription factor proteins can be described as the light switches of the human genome. These proteins bind to DNA and allow genes to turn “on” or “off.”

26 Oct 2020

Study: Early travel restrictions have significantly limited the spread of COVID-19 virus

The coronavirus, responsible for the COVID-19 pandemic, has one official name--SARS-CoV-2. But according to virologists, mutations lead to hundreds of genetically-distinct versions of the virus.

23 Oct 2020

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