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CRISPR-Cas9 gene-editing technology targets every gene in the genome in animal cancer model

For the first time, CRISPR-Cas9 gene-editing technology has been employed in a whole organism model to systematically target every gene in the genome.

6 Mar 2015

Researchers one step closer to unraveling complex processes crucial to sperm development

Researchers are one step closer to unraveling the extraordinarily complex series of processes that leads to an event crucial to human reproduction: the creation of sperm.

5 Mar 2015

Pediatric Cancer Genome Project identifies genetic basis of three pediatric melanoma subtypes

The St. Jude Children's Research Hospital—Washington University Pediatric Cancer Genome Project found that melanoma in some adolescent and adult patients involves many of the same genetic alterations and would likely respond to the same therapy.

5 Mar 2015

UIC researchers identify genetic variation that increases MS risk in women

Researchers at the University of Illinois at Chicago have identified a genetic variation that in women significantly increases their risk of developing multiple sclerosis.

5 Mar 2015

Study shows how mutations that cause Alzheimer's disease lead to neurodegeneration, dementia

A study from researchers at Massachusetts General Hospital and Brigham and Women's Hospital reveals for the first time exactly how mutations associated with the most common form of inherited Alzheimer's disease produce the disorder's devastating effects.

5 Mar 2015

UCLA life scientists develop new method to find genetic markers for many diseases

UCLA life scientists have created an accurate new method to identify genetic markers for many diseases -- a significant step toward a new era of personalized medicine, tailored to each person's DNA and RNA.

4 Mar 2015

New antibody provides 100% protection against H5N1 influenza virus in animal models

Since 2003, the H5N1 influenza virus, more commonly known as the bird flu, has been responsible for the deaths of millions of chickens and ducks and has infected more than 650 people, leading to a 60 percent mortality rate for the latter. Luckily, this virus has yet to achieve human-to-human transmission, but a small number of mutations could change that, resulting in a pandemic.

4 Mar 2015

Study on spider venom may lead to new class of potent painkillers

New research shows that seven compounds of the countless found in spider venom block a key step in the body's ability to pass pain signals to the brain. The hunt for a medicine based on just one of these compounds, which would open up a new class of potent painkillers, is now a step closer according to new research published in the British Journal of Pharmacology.

4 Mar 2015

CHOPS syndrome sheds light on key biological processes during human development

Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it.

3 Mar 2015

New study finds increase in use of adjuvant systemic therapy for gastrointestinal stromal tumors

A new study finds that the use of adjuvant systemic therapy for localized gastrointestinal stromal tumors (GISTs ) has significantly increased over time and that patients treated with the therapy have better survival than those treated with surgery alone.

3 Mar 2015

Sall4 protein helps fix DNA damage

A protein that helps embryonic stem cells (ESCs) retain their identity also promotes DNA repair, according to a study in The Journal of Cell Biology. The findings raise the possibility that the protein, Sall4, performs a similar role in cancer cells, helping them fix DNA damage to survive chemotherapy.

3 Mar 2015

Toning down TREM2 receptor's activity may help prevent neurodegeneration in AD patients

Tackling brain inflammation ameliorates Alzheimer's disease (AD), according to a study published in The Journal of Experimental Medicine.

3 Mar 2015

New genetic discovery may lead to effective treatments for Huntington's disease

A new genetic discovery in the field of Huntington's disease (HD) could mean a more effective way in determining severity of this neurological disease when using specific treatments. This study may provide insight for treatments that would be effective in slowing down or postponing the death of neurons for people who carry the HD gene mutation, but who do not yet show symptoms of the disease.

2 Mar 2015

U-M researchers reveal key role of two enzymes that help the body to remove cholesterol, other lipids

With the aid of X-ray crystallography, researchers at the University of Michigan have revealed the structures of two closely related enzymes that play essential roles in the body's ability to metabolize excess lipids, including cholesterol.

2 Mar 2015

Minihepcidin reverses iron overload of hemochromatosis, stops susceptibility to infections

Hemochromatosis (HH) is the most common genetic disorder in the western world, and yet is barely known. Only in the US 1 in 9 people carry the mutation (although not necessarily the disease).

2 Mar 2015

Culture conditions in which stem cells are grown can affect genetic stability

The therapeutic promise of human stem cells is indisputably huge, but the process of translating their potential into effective, real-world treatments involves deciphering and resolving a host of daunting complexities.

28 Feb 2015

CLL patients discontinue ibrutinib drug due to disease progression during clinical trials

About 10 percent of patients with chronic lymphocytic leukemia (CLL) discontinued therapy with the Bruton tyrosine kinase (BTK) inhibitor drug ibrutinib because of disease progression during clinical trials, according to a study published online in JAMA Oncology.

28 Feb 2015

Genetic decanalization can lead to complex genetic diseases in humans

The information encoded in the DNA of an organism is not sufficient to determine the expression pattern of genes. This fact has been known even before the discovery of epigenetics, which refers to external modifications to the DNA that turn genes "on" or "off".

28 Feb 2015

Researchers reveal role of abdominal muscles in muscular dystrophy process

The muscular dystrophies are known to target various muscle groups differentially. In addition to making limb muscles weak, muscular dystrophy (MD) can also lead to decreased function of specific muscles involved in respiration causing breathing difficulties as well as leading to cardiac problems.

27 Feb 2015

New tool provides molecular details about how mutations affect cellular processes

Today in the journal Nature Methods, the laboratory headed by ICREA researcher Patrick Aloy, at the Institute for Research in Biomedicine, presents a computational tool that allows a greater understanding of the genetic causes of complex diseases such as cancer, Alzheimer's and diabetes.

27 Feb 2015

Mutation News and Research

CRISPR-Cas9 gene-editing technology targets every gene in the genome in animal cancer model

Researchers one step closer to unraveling complex processes crucial to sperm development

Pediatric Cancer Genome Project identifies genetic basis of three pediatric melanoma subtypes

UIC researchers identify genetic variation that increases MS risk in women

Study shows how mutations that cause Alzheimer's disease lead to neurodegeneration, dementia

UCLA life scientists develop new method to find genetic markers for many diseases

New antibody provides 100% protection against H5N1 influenza virus in animal models

Study on spider venom may lead to new class of potent painkillers

CHOPS syndrome sheds light on key biological processes during human development

New study finds increase in use of adjuvant systemic therapy for gastrointestinal stromal tumors

Sall4 protein helps fix DNA damage

Toning down TREM2 receptor's activity may help prevent neurodegeneration in AD patients

New genetic discovery may lead to effective treatments for Huntington's disease

U-M researchers reveal key role of two enzymes that help the body to remove cholesterol, other lipids

Minihepcidin reverses iron overload of hemochromatosis, stops susceptibility to infections

Culture conditions in which stem cells are grown can affect genetic stability

CLL patients discontinue ibrutinib drug due to disease progression during clinical trials

Genetic decanalization can lead to complex genetic diseases in humans

Researchers reveal role of abdominal muscles in muscular dystrophy process

New tool provides molecular details about how mutations affect cellular processes

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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