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Comparing DNA-repair gene mutations in African American and Caucasian men with prostate cancer

Pathogenic or likely pathogenic alterations in these 14 DNA repair genes were less likely to be detected in African Americans as compared to Caucasians.

3 Feb 2020

Researchers reveal mutation's role in blood cancers

A genetic mutation that disrupts how DNA sends messages to the rest of a cell has been linked to a large number of blood cancers.

3 Feb 2020

Daily alcohol consumption ages brain

There are several studies looking at the effects of alcohol intake on the brain. Anew study adds to the existing knowledge. The large study with around 11,651 participants from United Kingdom shows that each gram of alcohol consumed could lead to around a week of aging of the brain.

2 Feb 2020

Researchers locate specific mutation in the gene responsible for Chédiak-Higashi syndrome

Humans and animals are made up of trillions of cells, and each cell contains DNA specific to that individual. Therefore, identifying DNA that causes genetic disorders gives researchers and clinicians a better understanding of how to treat inherited diseases and possibly prevent the diseases from being passed down to future generations.

30 Jan 2020

Gene-editing taken to advanced levels in human stem cells

A new study published in the journal Stem Cell Reports in January 2020 reports the use of an adaptation to a commonly used gene editing technology to achieve a more than 900% increase in efficiency.

30 Jan 2020

Quitting smoking reverses lung cell damage even for decade-long smokers

It’s never too late to quit smoking, as a new study shows the lung’s ability to heal and regrow damaged cells caused by cigarette smoking, even if they smoked for decades.

30 Jan 2020

Wuhan coronavirus is genetically different from human SARS, MERS-CoV, study found

The Wuhan coronavirus or the 2019-nCoV or novel coronavirus is a new human-infecting coronavirus genetically different from human SARS (Severe Acute Respiratory Syndrome), and MERS-CoV (Middle East Respiratory Syndrome), a team of scientists has found.

30 Jan 2020

Regulating neuronal lipid metabolism helps axon regeneration after injury, study finds

Typical examples include paralysis due to a spinal cord injury and visual field atrophy or even complete blindness due to optic nerve atrophy in glaucoma patients.

30 Jan 2020

Hokkaido University scientists reveal missing link in rare inherited skin disease

Hokkaido University scientists are getting closer to understanding how a rare hereditary disease impairs the skin's barrier function, which determines how well the skin is protected.

29 Jan 2020

Research uncovers disease-aggravating mutation in mouse model of GRACILE syndrome

The new mitochondrial DNA (mtDNA) variant drastically speeds up the disease progression in a mouse model of GRACILE syndrome. This discovery provides a new tool for studies of mitochondrial diseases.

29 Jan 2020

Successful gene therapy trial in patients with X-linked Chronic Septic Granulomatosis

American and British teams led by Drs Kohn (University of California, Los Angeles), Malech (NIH), Williams (Boston Children's) and Trasher (Great Ormond Street Institute of Child Health) published yesterday in Nature Medicine the conclusive results of a gene therapy trial conducted in the United States and Great Britain in 9 patients with X-linked Chronic Septic Granulomatosis (X-CGD), a rare and severe immune dysfunction. Six of them are free of treatment for complications generated by the disease.

28 Jan 2020

Prostate cancer is the most commonly diagnosed cancer in England

In the health agency’s report, there were 49,029 diagnoses made in 2018, which is about 8,000 more than the previous year, surpassing breast cancer with 47,476 cases. Lung cancer followed with 38,996 cases. The new data reveals that there were more cancers detected in 2018 in men than in women, with a total of 15,228 cases and 151,452, respectively.

28 Jan 2020

New study of genes in Asian populations may help better understand, treat genetic diseases

An ambitious new study of genes in Asian populations is filling in big gaps in our understanding of human genetics, shedding light on the history of human migration and ultimately aiming to improve our ability to treat disease.

28 Jan 2020

Scientists reveal the damaging effect of Zika virus on a type of brain cell

The Zika virus (ZIKV) outbreak in Brazil in 2015 sparked for many health agencies and scientists to study the pathogen, which has been linked to microcephaly and other fetal neurological disorders collectively known as Congenital Zika Syndrome.

27 Jan 2020

Research unravels consequences of Zika virus attack on neural cells

Previous studies regarding the damage of the Zika virus on the brain had already pointed out the virus's predilection for a certain neural cell: the astrocyte. However, few studies have proposed to identify the infection effects on these cells, as well as their association with developmental alterations, including brain malformations and microcephaly.

27 Jan 2020

Data from high-quality registries to be considered in benefit assessment of drugs

Particularly in the case of accelerated drug approvals and drugs for rare diseases (orphan drugs), the evidence available at the time of market access is often insufficient for the early benefit assessment of drugs.

24 Jan 2020

Determining Microsatellite Instability Status Using Multiplex PCR-Based Methods

Determining microsatellite instability status using multiplex PCR-based methods used to screen for Lynch Syndrome, a dominant hereditary cancer propensity.

From Promega Corporation 24 Jan 2020

Meridian launches High-Specificity Pfu HS Mix to increase customers’ testing capabilities

Meridian Bioscience, Inc. today announced the launch of a High-Specificity Pfu HS Mix that not only provides high-fidelity amplification, but also offers market-leading amplification for companion diagnostic (CDx) and clinical testing.

From Meridian Bioscience, Inc. 24 Jan 2020

Iron overload, variant gene and malaria resistance linked in African study

A new study shows that a rare genetic mutation giving rise to a variant of the TP53 gene called P47S causes several linked biological processes.

24 Jan 2020

RB1 alterations in cancer cells may lead to treatment resistance

The Cancer Genetics Group of the Josep Carreras Leukaemia Research Institute, led by Montse Sánchez-Céspedes, together with Luis Montuenga from CIMA, and Enriqueta Felip from Vall d'Hebron Hospital, has revealed that inactivation of RB1 through intragenic rearrangements is frequent in lung cancer cells from non-smoking patients with EGFR mutations.

24 Jan 2020

Mutation News and Research

Comparing DNA-repair gene mutations in African American and Caucasian men with prostate cancer

Researchers reveal mutation's role in blood cancers

Daily alcohol consumption ages brain

Researchers locate specific mutation in the gene responsible for Chédiak-Higashi syndrome

Gene-editing taken to advanced levels in human stem cells

Quitting smoking reverses lung cell damage even for decade-long smokers

Wuhan coronavirus is genetically different from human SARS, MERS-CoV, study found

Regulating neuronal lipid metabolism helps axon regeneration after injury, study finds

Hokkaido University scientists reveal missing link in rare inherited skin disease

Research uncovers disease-aggravating mutation in mouse model of GRACILE syndrome

Successful gene therapy trial in patients with X-linked Chronic Septic Granulomatosis

Prostate cancer is the most commonly diagnosed cancer in England

New study of genes in Asian populations may help better understand, treat genetic diseases

Scientists reveal the damaging effect of Zika virus on a type of brain cell

Research unravels consequences of Zika virus attack on neural cells

Data from high-quality registries to be considered in benefit assessment of drugs

Determining Microsatellite Instability Status Using Multiplex PCR-Based Methods

Meridian launches High-Specificity Pfu HS Mix to increase customers’ testing capabilities

Iron overload, variant gene and malaria resistance linked in African study

RB1 alterations in cancer cells may lead to treatment resistance

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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