Mutation News and Research

RSS

Transgenic fruit flies can shed light on genetic mutations that underlie kidney disease in humans

An off-the-shelf dietary supplement available for pennies per dose demonstrated the ability to reverse cellular damage linked to specific genetic mutations in transgenic fruit flies, an experimental model of genetic mutation-induced renal cell injury that features striking similarities to humans, a Children's National Health System research team reports April 20 in Journal of the American Society of Nephrology.

21 Apr 2017

Researchers use gene-editing tool to restore visual function in mouse models of retinitis pigmentosa

Using the gene-editing tool CRISPR/Cas9, researchers at University of California San Diego School of Medicine and Shiley Eye Institute at UC San Diego Health, with colleagues in China, have reprogrammed mutated rod photoreceptors to become functioning cone photoreceptors, reversing cellular degeneration and restoring visual function in two mouse models of retinitis pigmentosa.

21 Apr 2017

Study finds high degree of discordance between Myriad Genetics and public database in BRCA1 and BRCA2 variant classifications

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, today announced that new data comparing BRCA1 and BRCA2 variant classifications between Myriad Genetics and a commonly used public genetic database was published in the journal The Oncologist.

21 Apr 2017

Rat study reveals new clues to devastating neurological disease

After a 29-year quest, Ian Duncan, a professor of veterinary medicine at the University of Wisconsin-Madison, has finally pinpointed the cause of a serious neurologic disease in a colony of rats.

20 Apr 2017

Brain cancer patient treated with malaria drug shows dramatic improvement

After her brain cancer became resistant to chemotherapy and then to targeted treatments, 26-year-old Lisa Rosendahl's doctors gave her only a few months to live.

19 Apr 2017

New blood test can accurately, quickly identify genetic mutations linked to NSCLC

Identification of a specific genetic mutation in patients with non-small-cell lung cancer (NSCLC) helps clinicians select the best treatment option. Potential NSCLC patients usually undergo invasive tissue biopsy, which may often be unnecessary and delays treatment.

19 Apr 2017

New Virtual Microscopy Database helps educators and students zoom into the human body

A medical student in Michigan. A nursing student in Ghana. An anatomy professor in Brazil. A researcher in Australia. All need to learn -- or teach -- about the human body at the most basic level.

18 Apr 2017

Researchers correct Duchenne muscular dystrophy using gene-editing alternative

Using the new gene-editing enzyme CRISPR-Cpf1, researchers at UT Southwestern Medical Center have successfully corrected Duchenne muscular dystrophy in human cells and mice in the lab.

13 Apr 2017

International research effort reveals major insights into spread of West African Ebola epidemic

An international effort to analyze the entire database of Ebola virus genomes from the 2013-2016 West African epidemic reveals insights into factors that sped or slowed the rampage and calls for using real-time sequencing and data-sharing to contain future viral disease outbreaks.

12 Apr 2017

Targeted treatment slows progression of two degenerative brain diseases in mice

Scientists report a significant step toward combatting two degenerative brain diseases that chip away at an individual's ability to move, and think.

12 Apr 2017

Scientists discover potential trigger for MDS in children with rare genetic disorder

Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells.

12 Apr 2017

Prevention, not cure, may be key to stopping Alzheimer’s disease

It has been 111 years since Auguste D. became the first person described with what is now called Alzheimer's disease.

12 Apr 2017

Researchers uncover mechanism that leads to disorders in pancreatic development, infant diabetes

Researchers at the University of Helsinki, Finland, have uncovered a mechanism through which a mutation in the STAT3 gene leads to a disorder in the development of the pancreas and to infant diabetes.

11 Apr 2017

Gene CRY1 variant alters circadian clock contributing to delayed sleep phase disorder, study finds

If all your life, you have been functioning best in the evening and night compared to the mornings, a gene mutation may be a reason.

10 Apr 2017

Researchers identify genetic cause of rare neurological movement disorder

Researchers at the University of Liverpool have identified the basis for how a single gene mutation can cause a rare neurological movement disorder known as dystonia.

10 Apr 2017

Bielefeld University launches five new medical research projects

Bielefeld University is strengthening its cooperations in medical research. In five new projects, scientists at the university are cooperating with the University hospitals of the Ruhr University of Bochum in the Ostwestfalen-Lippe region.

7 Apr 2017

Researchers solve medical mystery through genetics

Researchers have identified the genetic mutation responsible for one patient's serious health problems, finally solving a medical mystery that has endured for over 30 years.

6 Apr 2017

Researchers use modified AAV as ‘Trojan Horse’ for delivering genes to restore congenital deafness

There are more than 300 genetic defects that have been found to prevent the hair cells in the human inner ear, the sensory cells of the ear as it were, from working properly.

6 Apr 2017

OIST scientists use zebrafish model to unravel causes behind human LCA

Newborns babies can be at risk of congenital blindness, presenting sight defects due to lesions or to genetic mutations in their genome.

5 Apr 2017

New microfluidic technique may provide patients with less painful test for multiple myeloma

Multiple myeloma is a cancer of the plasma cells, which are white blood cells produced in bone marrow that churn out antibodies to help fight infection. When plasma cells become cancerous, they produce abnormal proteins, and the cells can build up in bone marrow, ultimately seeping into the bloodstream.

4 Apr 2017

Mutation News and Research

Transgenic fruit flies can shed light on genetic mutations that underlie kidney disease in humans

Researchers use gene-editing tool to restore visual function in mouse models of retinitis pigmentosa

Study finds high degree of discordance between Myriad Genetics and public database in BRCA1 and BRCA2 variant classifications

Rat study reveals new clues to devastating neurological disease

Brain cancer patient treated with malaria drug shows dramatic improvement

New blood test can accurately, quickly identify genetic mutations linked to NSCLC

New Virtual Microscopy Database helps educators and students zoom into the human body

Researchers correct Duchenne muscular dystrophy using gene-editing alternative

International research effort reveals major insights into spread of West African Ebola epidemic

Targeted treatment slows progression of two degenerative brain diseases in mice

Scientists discover potential trigger for MDS in children with rare genetic disorder

Prevention, not cure, may be key to stopping Alzheimer’s disease

Researchers uncover mechanism that leads to disorders in pancreatic development, infant diabetes

Gene CRY1 variant alters circadian clock contributing to delayed sleep phase disorder, study finds

Researchers identify genetic cause of rare neurological movement disorder

Bielefeld University launches five new medical research projects

Researchers solve medical mystery through genetics

Researchers use modified AAV as ‘Trojan Horse’ for delivering genes to restore congenital deafness

OIST scientists use zebrafish model to unravel causes behind human LCA

New microfluidic technique may provide patients with less painful test for multiple myeloma

Industry Focus eBook - Analytical Chemistry (2nd Edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News