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First pharmacological treatment option for patients with a severe form of epilepsy

Epilepsy comes in a variety of forms. Those affected by a genetically de- termined variety have severe epileptic seizures as early as the first year of life.

1 Sep 2021

New model shows how dysfunction in the air sacs initiates fibrotic cascade

Idiopathic pulmonary fibrosis (IPF) is the most common and severe form of lung disease characterized by relentless scarring leading to death within an average of four years from the time of diagnosis.

31 Aug 2021

Blood test could enable early detection of cancer in people with neurofibromatosis type 1

People with an inherited condition known as neurofibromatosis type 1, or NF1, often develop non-cancerous, or benign, tumors that grow along nerves. These tumors can sometimes turn into aggressive cancers, but there hasn't been a good way to determine whether this transformation to cancer has happened.

31 Aug 2021

Attenuated virulence and protective immunity in SARS-CoV-2 with a mutation in the S1/S2 cleavage site

A new study published in mBio investigates the impact of the furin cleavage site on viral growth and pathogenesis.

31 Aug 2021

Development of SARS-CoV-2 antibody escape variants in an immunocompromised individual

A new study published in mBio discusses the microevolution of SARS-CoV-2.

31 Aug 2021

Post-infection vaccination produces potent neutralizing antibodies against SARS-CoV-2 variants

The best protection against new SARS-CoV-2 infections or reinfections may be obtained by a combination of vaccine-elicited and infection-induced antibodies.

31 Aug 2021

New research has implications for developing cancer therapies targeting mutant p53 protein

The tumor suppressor protein p53 is mutated in more than half of all human cancers. Several drugs that potentially can restore mutant p53 to its normal cancer-killing function are in clinical investigation.

31 Aug 2021

New, one-stop method developed to avoid de novo genetic disease in embryos

De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have.

31 Aug 2021

Study identifies actionable genes and candidate drugs in biliary tract cancer using a knowledgebase

Oncotarget published "Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase" which reported that it is necessary to investigate actionable genes and candidate drugs using a sophisticated knowledgebase and characterize BTCs immunologically for evaluating the actionability of molecular and immune therapies.

31 Aug 2021

Gitelman syndrome more common in Japanese population than previously reported

Clinical Fellow KONDO Atsushi and Professor NOZU Kandai et al. of Kobe University's Graduate School of Medicine have estimated the prevalence of Gitelman syndrome across different ethnicities using a genome database.

30 Aug 2021

Will mRNA vaccine boosters be required for SARS-CoV-2 variants?

A new study shows that the highly effective mRNA Moderna vaccine designed against the original SARS-CoV-2 strain may lose some efficacy as new variants arise.

30 Aug 2021

Study reveals how SARS-CoV-2 variants of concern modulate receptor and antibody binding

In a trailblazing engineering effort, Canadian and US researchers indicate that the emergence of novel variants of SARS-CoV-2 stems from the mutations of spike glycoprotein that confer either increased affinity for the host cell receptor or increased antibody evasion.

30 Aug 2021

New study maps the evolution of the SARS-CoV-2 delta and delta plus variants

The SARS-CoV-2 delta variant bears the D164G mutation, which is known to enhance viral fitness. However, a number of additional mutations are known to be common to the delta and delta plus lineages, at least 25 as identified in a study recently published in the Journal of Autoimmunity, mainly located on the spike protein of the virus.

30 Aug 2021

Researchers reveal mechanism underlying most common cause of epileptic seizures

During fetal development, cells should migrate to the outer edge of the brain to form critical connections for information transfer and regulation in the body.

26 Aug 2021

Potential variant of interest in South Africa assigned to the PANGO lineage C.1.2

Continual genomic surveillance of the SARS-CoV-2 strains in South Africa has revealed an increase in the number of sequences belonging to C.1 lineage during the third wave (May 2021) of SARS-CoV-2 infections. This observation was unexpected because C.1 was last reported in January 2021.

26 Aug 2021

Scientists assess SARS-CoV-2 mutants in ferret hosts

In a paper recently uploaded to the preprint server bioRxiv* by the cause of SARS-CoV-2 mutations observed in mink and ferrets is investigated, and the danger posed by such mutations to humans assessed.

26 Aug 2021

Studies offer insight into how the human body develops and acquires mutations throughout life

New insights into how the human body develops from one cell into trillions, and the genetic mutations that cells pick up along the way, have been generated by two studies from scientists at the Wellcome Sanger Institute, the University of Cambridge and their collaborators.

26 Aug 2021

BioPlx sets out to control and combat the rise of antibiotic-resistant superbugs

Antimicrobial Resistance is "one of the greatest threats to society, human and animal health, and economic prosperity." Those are the unequivocal words regarding the gravity of antimicrobial-resistant bacteria from the National Institute of Antimicrobial Resistance Research and Education.

26 Aug 2021

MSK researchers identify potential biomarker of response to checkpoint immunotherapy

In recent years, immune-based treatments for cancer have buoyed the hopes of doctors and patients alike. Drugs called immune checkpoint inhibitors have provided lifesaving benefits to a growing list of people with several types of cancer, including melanoma, lung cancer, bladder cancer, and many more.

25 Aug 2021

Two studies on gastrointestinal stroma tumors describe advances that may lead to new treatments

Gastrointestinal stroma tumors (GIST) are cancers that start in specialized nerve cells found in the digestive system, from the esophagus and stomach to the intestines and rectum.

25 Aug 2021

Mutation News and Research

First pharmacological treatment option for patients with a severe form of epilepsy

New model shows how dysfunction in the air sacs initiates fibrotic cascade

Blood test could enable early detection of cancer in people with neurofibromatosis type 1

Attenuated virulence and protective immunity in SARS-CoV-2 with a mutation in the S1/S2 cleavage site

Development of SARS-CoV-2 antibody escape variants in an immunocompromised individual

Post-infection vaccination produces potent neutralizing antibodies against SARS-CoV-2 variants

New research has implications for developing cancer therapies targeting mutant p53 protein

New, one-stop method developed to avoid de novo genetic disease in embryos

Study identifies actionable genes and candidate drugs in biliary tract cancer using a knowledgebase

Gitelman syndrome more common in Japanese population than previously reported

Will mRNA vaccine boosters be required for SARS-CoV-2 variants?

Study reveals how SARS-CoV-2 variants of concern modulate receptor and antibody binding

New study maps the evolution of the SARS-CoV-2 delta and delta plus variants

Researchers reveal mechanism underlying most common cause of epileptic seizures

Potential variant of interest in South Africa assigned to the PANGO lineage C.1.2

Scientists assess SARS-CoV-2 mutants in ferret hosts

Studies offer insight into how the human body develops and acquires mutations throughout life

BioPlx sets out to control and combat the rise of antibiotic-resistant superbugs

MSK researchers identify potential biomarker of response to checkpoint immunotherapy

Two studies on gastrointestinal stroma tumors describe advances that may lead to new treatments

Managing vibration in IVF laboratories

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

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