Mutation News and Research

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New research project receives federal funding to expand treatment options for sickle cell patients

A new research project that could impact and expand the discovery of new treatment options for sickle cell patients has received significant federal funding.

5 Aug 2020

Scientists develop new models to study molecular characteristics of lung and pancreatic cancers

Scientists at Huntsman Cancer Institute (HCI) at the University of Utah (U of U) report today the development of new models to study molecular characteristics of tumors of the lung and pancreas

5 Aug 2020

Scientists detect emergence and spread of artemisinin-resistant malaria parasites in Rwanda

Resistance to artemisinin, the main component of the current antimalarial treatments recommended by WHO, is already widespread in South-East Asia, but it had not previously been described in Africa.

5 Aug 2020

De novo protein decoys that block SARS-CoV-2

Now, a new study published on the preprint server bioRxiv in August 2020 shows that computational design technology can be efficiently harnessed towards this end, producing new molecules to inhibit viral entry and replication.

5 Aug 2020

Study identifies impact of gene mutations on severity of myelodysplastic syndrome

The Myelodysplastic Syndromes Group of Josep Carreras Leukaemia Research Institute, led by Dr. Francesc Solé, has participated in the first international study that confirms that having two mutated copies of the TP53 gene, as opposed to a single mutated copy, is associated with a worse prognosis in patients diagnosed with myelodysplastic syndrome (MDS).

4 Aug 2020

Novel mutation identified in SARS-CoV-2 spike protein from Sweden

Researchers from Sweden and Brazil have identified a novel mutation in a strain of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) obtained from a patient in Stockholm, Sweden, in late April.

4 Aug 2020

Researchers discover treatment for severe auto inflammatory syndrome

Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of--and a treatment for--a previously unknown severe auto inflam-matory syndrome affecting an 18-year-old girl since infancy.

4 Aug 2020

Normal DNA repair process can lead to mutations in cancer

Hypermutation is an unusual occurence that can lead to many nearby mutations at once, severely damaging our genetic material and potentially causing cancer.

4 Aug 2020

ALKBH5 enzyme shows promising target for cancer immunotherapy

Cancer immunotherapy - a treatment that better enables a patient's own immune system to attack tumors - has shown great potential against some cancers. Yet immunotherapy doesn't work against all tumor types, and many patients who initially respond later develop resistance and relapse.

4 Aug 2020

Zika virus mutation responsible for quick spread, birth defects uncovered

A multidisciplinary team from The University of Texas Medical Branch at Galveston has uncovered a Zika virus mutation that may be responsible for the explosive viral transmission in 2015/2016 and for the cause of microcephaly (babies with small heads) born to infected pregnant women.

3 Aug 2020

Study reveals impact of TP53 gene mutations on MDS severity

Considered the "guardian of the genome," TP53 is the most commonly mutated gene in cancer. TP53's normal function is to detect DNA damage and prevent cells from passing this damage on to daughter cells.

3 Aug 2020

Extensive study of SARS-CoV-2 sequencing reveals six strains of the virus

The virus causing the COVID-19 pandemic, SARS-CoV-2, presents at least six strains. Despite its mutations, the virus shows little variability, and this is good news for the researchers working on a viable vaccine.

3 Aug 2020

Study shows how G406R single point mutation of the Cav1.2 channel confers autism

Autism spectrum disorder (ASD) is a heterogeneous disorder initiated early in development and characterized by abnormal social communication. Accumulating evidence supports the idea that specific mutations affect regulatory proteins that control arrays of cellular pathways.

3 Aug 2020

A blood test may be an easy way to predict who will benefit from immunotherapy

A test which detects changing levels of tumour fragments in the blood may be an easy, non-invasive and quick way to predict who will benefit from immunotherapy, a treatment option for advanced cancers.

3 Aug 2020

New method to detect rare circulating tumor cells in blood samples

Metastasis - the development of tumor growth at a secondary site - is responsible for the majority of cancer-related deaths. It occurs when the primary tumor site sheds cancerous cells which are then circulated through the body via blood vessels or lymph nodes.

3 Aug 2020

Stabilized prefusion spike vaccine candidate induces powerful immune response

A new research paper by scientists at Janssen Vaccines & Prevention BV, in the Netherlands and published on the preprint server bioRxiv* is based on the assumption that an effective vaccine against these infections will induce neutralizing antibodies and an immune response favoring Th1 immunity.

3 Aug 2020

Study sheds light on potential new treatment approach in AML patients

Tyrosine kinases are protein enzymes that have many functions within cells, including cell signaling, growth, and division. Sometimes these enzymes can be overactive, which helps cancer cells survive and multiply.

31 Jul 2020

Understanding the causal relationships between diabetes, obesity and NAFLD

Diabetes, obesity and nonalcoholic fatty liver disease (NAFLD) are all common diseases that can lead to serious health implications.

31 Jul 2020

Antioxidants in diet could raise risk of bowel cancer, new study reveals

Health benefits of antioxidants in food have been proven across a considerable body of scientific literature. Now, a new study shows that too much of a good thing may not be that good! Typically antioxidants in food, including polyphenols, flavonoids, and other plant compounds, could raise the risk of bowel cancer finds a new study from Israeli researchers.

30 Jul 2020

Study shows how chronic psychological stress leads to sickle cell crises

A new study shows how chronic psychological stress leads to painful vessel-clogging episodes--the most common complication of sickle-cell disease (SCD) and a frequent cause of hospitalizations.

30 Jul 2020