Mutation News and Research

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Researchers use guide RNAs to improve base editing system

Researchers have used guide RNAs to improve the adenine base editing (ABE) system, used by scientists to alter genetic codes in animal models of disease.

1 Aug 2018

Mutation 'hotspots' in DNA could help determine cancer risk

Researchers have identified DNA 'hotspots' where gene mutations are significantly more likely to arise. The findings will be used to determine cancer risk.

31 Jul 2018

Scientists find people's assumptions about DNA repair after CRISPR editing to be wrong

Despite high hopes and high investment in CRISPR-Cas9 gene editing, scientists still have a lot to learn about how it works in humans.

31 Jul 2018

Ivosidenib receives FDA approval to treat acute myeloid leukemia patients with IDH1 mutation

Clinical trials at University of Colorado Cancer Center and elsewhere now result in the drug ivosidenib earning approval from the U.S. Food and Drug Administration for the treatment of adult patients with relapsed or refractory acute myeloid leukemia with a susceptible isocitrate dehydrogenase-1 mutation.

30 Jul 2018

BRAF inhibitors may be effective at treating rare ovarian cancer, study shows

New research has shown that ovarian cancer patients with a tumor mutation in the BRAF gene respond exceptionally well to treatment with targeted drugs, known as BRAF inhibitors.

30 Jul 2018

OHSU researchers discover disease in monkeys that mimics childhood neurodegenerative disorder

OHSU scientists have discovered a naturally occurring disease in monkeys that mimics a deadly childhood neurodegenerative disorder in people - a finding that holds promise for developing new gene therapies to treat Batten disease.

27 Jul 2018

Novartis' new drug combination receives positive CHMP opinion for treating stage III BRAF mutant melanoma

Novartis today announced the Committee for Medicinal Products for Human Use of the European Medicines Agency has adopted a positive opinion recommending approval of Tafinlar® in combination with Mekinist® for the adjuvant treatment of adult patients with stage III melanoma with a BRAF V600 mutation, following complete resection.

27 Jul 2018

Newer version of ALS drug may effectively treat inherited form of the disease

NIH-funded researchers delayed signs of amyotrophic lateral sclerosis in rodents by injecting them with a second-generation drug designed to silence the gene, superoxide dismutase 1.

27 Jul 2018

Answer to decades-old mystery may allow some children to avoid bone marrow transplantation

Researchers have helped solve a decades-old mystery about which mutations are responsible for an inherited bone marrow disorder.

27 Jul 2018

Mutations of IRF2BPL gene associated with previously undiagnosed neurological disorder

An international team of scientists, including researchers from Baylor College of Medicine, has discovered mutations of gene IRF2BPL that are associated with a previously undiagnosed neurological disorder in seven unrelated individuals.

27 Jul 2018

New mouse model shows great promise for Rett syndrome research

In an article released today from Jeannie T. Lee, MD PhD of Massachusetts General Hospital, there is hope on the horizon for future research specific to Rett syndrome, a rare childhood neurodevelopmental disorder.

26 Jul 2018

Scientists discover gene that predicts arthritis severity

Scientists have discovered a new gene that is associated with disease severity in rheumatoid arthritis. HIP1 produces an inflammatory molecule which drives RA.

26 Jul 2018

Anti-cancer gene may switch side and promote cancer growth, shows study

It doesn't often happen that army generals switch sides in the middle of a war, but when cancer's attack is underway, it may even cause a gene that acts as the body's master defender to change allegiance.

26 Jul 2018

New combination approach may help crush resistance to treatment in lung cancer patients

New-generation lung cancer drugs have been effective in a large number of patients, but within about a year, the patients tend to develop resistance to the therapy.

26 Jul 2018

Parkinson's therapies being developed may benefit everybody with the disease

A gene linked to 3 to 4 percent of people with Parkinson's disease could play an important role in most, if not all, people with the disease, according to new study findings from the University of Pittsburgh School of Medicine and UPMC.

26 Jul 2018

New protein complex may explain why patients develop resistance to novel anti-cancer drugs

A team of researchers at the University of Cambridge has identified a protein complex that might explain why some cancer patients treated with the revolutionary new anti-cancer drugs known as PARP inhibitors develop resistance to their medication.

25 Jul 2018

Mutated gene linked to 3-year-old girl's severe neurological symptoms

A young girl with severe neurological symptoms finally has a diagnosis, following the discovery by the Translational Genomics Research Institute of a genetic mutation that likely caused the girl to experience a cascade of symptoms.

24 Jul 2018

MODEL-AD Center releases eight new mouse models for Alzheimer's research

The MODEL-AD Center, an ambitious project to develop and distribute precise mouse models of late-onset Alzheimer's disease (AD), has released eight new models carrying genetic mutations found in patients.

23 Jul 2018

Researchers investigate recessive genetic disorder that leads to childhood blindness

Our genome is made up of 20,000 genes, all of which may cause disease. At present, 4,141 genes have been identified as being responsible for genetic abnormalities, leaving around 16,000 genes with unknown implication in disease.

23 Jul 2018

FDA approves first drug for treatment of adult AML patients with specific genetic mutation

The U.S. Food and Drug Administration today approved Tibsovo (ivosidenib) tablets for the treatment of adult patients with relapsed or refractory acute myeloid leukemia (AML) who have a specific genetic mutation.

20 Jul 2018

Mutation News and Research

Researchers use guide RNAs to improve base editing system

Mutation 'hotspots' in DNA could help determine cancer risk

Scientists find people's assumptions about DNA repair after CRISPR editing to be wrong

Ivosidenib receives FDA approval to treat acute myeloid leukemia patients with IDH1 mutation

BRAF inhibitors may be effective at treating rare ovarian cancer, study shows

OHSU researchers discover disease in monkeys that mimics childhood neurodegenerative disorder

Novartis' new drug combination receives positive CHMP opinion for treating stage III BRAF mutant melanoma

Newer version of ALS drug may effectively treat inherited form of the disease

Answer to decades-old mystery may allow some children to avoid bone marrow transplantation

Mutations of IRF2BPL gene associated with previously undiagnosed neurological disorder

New mouse model shows great promise for Rett syndrome research

Scientists discover gene that predicts arthritis severity

Anti-cancer gene may switch side and promote cancer growth, shows study

New combination approach may help crush resistance to treatment in lung cancer patients

Parkinson's therapies being developed may benefit everybody with the disease

New protein complex may explain why patients develop resistance to novel anti-cancer drugs

Mutated gene linked to 3-year-old girl's severe neurological symptoms

MODEL-AD Center releases eight new mouse models for Alzheimer's research

Researchers investigate recessive genetic disorder that leads to childhood blindness

FDA approves first drug for treatment of adult AML patients with specific genetic mutation

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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