Mutation News and Research

RSS

Researchers reveal totally new biological mechanism that underlies cancer

In a landmark study, researchers from the Broad Institute and Massachusetts General Hospital reveal a completely new biological mechanism that underlies cancer. By studying brain tumors that carry mutations in the isocitrate dehydrogenase (IDH) genes, the team uncovered some unusual changes in the instructions for how the genome folds up on itself.

13 Jan 2016

New discovery may help researchers tackle mitochondrial diseases and age-related diseases

Buck Institute faculty Judith Campisi, PhD, says age researchers need to stop thinking of cellular senescence, now accepted as an important driver of aging, as a single phenotype that stems from genotoxic stress. Research from her lab reveals that cellular senescence, a process whereby cells permanently lose the ability to divide, is also induced by signaling from dysfunctional mitochondria - and that the arrested cells secrete a distinctly different "stew" of biologically active factors in a process unrelated to the damaging free radicals that are created in mitochondria as part of oxygen metabolism.

13 Jan 2016

UCLA discovery could lead to new therapies for autism

UCLA scientists have discovered that an overlooked region in brain cells houses a motherlode of mutated genes previously tied to autism. Recently published in Neuron, the finding could provide fresh drug targets and lead to new therapies for the disorder, which affects one in 68 children in the United States.

13 Jan 2016

Pulmonary neuroendocrine cells act like sensor to orchestrate immune response

An uncommon and little-studied type of cell in the lungs has been found to act like a sensor, linking the pulmonary and central nervous systems to regulate immune response in reaction to environmental cues.

13 Jan 2016

New gene-filtering tool aims to predict disease-causing mutations

Despite their bad reputations, the vast majority of mutations are not harmful. Even in very rare genetic disorders, only one or two genetic variations — out of tens of thousands — is actually the cause of disease. Distinguishing between harmful and harmless mutations has long been a challenge.

13 Jan 2016

New mechanism of differentiation may offer novel therapeutic approaches to blood malignancies, solid tumors

In humans the differentiation of stem cells into hundreds of specialized cell types is vital. Differentiation drives development from fertilized egg to a newborn, and it underlies the continuous replacement of the 5 billion cells that die every hour in an adult. On the downside, mutations in differentiation pathways of different cell types can be drivers of cancers.

13 Jan 2016

Researchers discover molecular target for DNA repair defects behind Fanconi anemia

Researchers have identified a molecular target and experimental treatment strategy for DNA repair defects behind Fanconi anemia – a complex genetic disorder responsible for birth anomalies, organ damage, anemia and cancer.

12 Jan 2016

Three new genetic associations identified for primary open angle glaucoma

Researchers from Massachusetts Eye and Ear/Harvard Medical School and Case Western Reserve University School of Medicine have led an international effort to identify three genetic associations that influence susceptibility to primary open angle glaucoma -- the most common form of adult onset glaucoma and the leading cause of irreversible blindness in the world.

12 Jan 2016

NIH-funded analysis identifies three genes that contribute to most common form of glaucoma

An analysis funded by the National Eye Institute (NEI), part of the National Institutes of Health, has identified three genes that contribute to the most common type of glaucoma. The study increases the total number of such genes to 15.

12 Jan 2016

Physicians may soon have new tool to closely track severity, potential spread of metastatic melanoma

Physicians treating patients with metastatic melanoma — one of the most aggressive forms of skin cancer — may soon have a superior tool in their efforts to closely track the disease.

12 Jan 2016

Wistar Institute scientists use revolutionary method to block melanoma progression

Melanoma patients who receive treatment with targeted therapies experience an initial response that feels like a cure, but that early excitement is quickly dampened when patients relapse as their cancers find alternative pathways in our cells to grow and spread. With melanoma so good at escaping targeted treatments, there's a dire need to halt these cancers in their tracks to prolong good responses and promote longer, healthier lives.

11 Jan 2016

Finding may aid in the design of potential therapies for thyroid problems

Thyroid disease affects about 12 percent of the U.S. population. While many people with thyroid disease don't even know they have it, an overactive or underactive thyroid can cause a slew of problems, including weight gain or loss, mood changes and infertility. In children, an underactive thyroid can be fatal, which is why they are tested for a deficiency at birth.

11 Jan 2016

Research could lead to new treatment for Rett Syndrome, other forms of autism

Penn State scientists have discovered a novel drug target and have rescued functional deficits in human nerve cells derived from patients with Rett Syndrome, a severe form of autism-spectrum disorder.

11 Jan 2016

New strategy may reduce growth of pancreatic cancers in patients with KRAS gene mutation

University of North Carolina Lineberger Comprehensive Cancer Center researchers have found a promising strategy that may limit the growth of pancreatic cancers in patients with a mutation in a gene called KRAS.

11 Jan 2016

UA researchers find genetic mutations associated with respiratory disease

Asthma affects more than 278 million people worldwide and can lead to serious consequences later in life. While current approved therapies address symptoms, they do not halt disease progression.

11 Jan 2016

UTA researchers map out chemical mechanism of key enzyme found in autism, Alzheimer's and Down syndrome

Biochemists at The University of Texas at Arlington are mapping the catalytic processes of sulfur-oxidizing enzymes to improve understanding of the chemical imbalances found in patients with autism, Alzheimer's disease and Down syndrome.

11 Jan 2016

CTCA at Western announces launch of Phase II NivoPlus clinical trial

Cancer Treatment Centers of America at Western Regional Medical Center in Goodyear, Arizona, has announced the launch of Phase II of the NivoPlus clinical trial, which combines the immunotherapeutic agent nivolumab with chemotherapy drugs irinotecan and capecitabine.

11 Jan 2016

New gene editing technique could hinder retinal degeneration in rats with inherited blindness

A new technique that has the potential to treat inherited diseases by removing genetic defects has been shown for the first time to hinder retinal degeneration in rats with a type of inherited blindness, according to a Cedars-Sinai study.

11 Jan 2016

Auranofin drug could improve prognosis for ovarian cancer patients exhibiting BRCA1 deficiency

An anti-rheumatic drug could improve the prognosis for ovarian cancer patients exhibiting a deficiency of the DNA repair protein BRCA1, a study suggests.

11 Jan 2016

NUS-led study discovers potential therapeutic approach against colorectal cancer

A study led by researchers from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore (NUS) has demonstrated the efficiency of a small molecule drug, PRIMA-1met, in inhibiting the growth of colorectal cancer cells. Colorectal cancer is the cancer of the large intestine (colon and rectum) and is the most common cancer in Singapore.

11 Jan 2016

Mutation News and Research

Researchers reveal totally new biological mechanism that underlies cancer

New discovery may help researchers tackle mitochondrial diseases and age-related diseases

UCLA discovery could lead to new therapies for autism

Pulmonary neuroendocrine cells act like sensor to orchestrate immune response

New gene-filtering tool aims to predict disease-causing mutations

New mechanism of differentiation may offer novel therapeutic approaches to blood malignancies, solid tumors

Researchers discover molecular target for DNA repair defects behind Fanconi anemia

Three new genetic associations identified for primary open angle glaucoma

NIH-funded analysis identifies three genes that contribute to most common form of glaucoma

Physicians may soon have new tool to closely track severity, potential spread of metastatic melanoma

Wistar Institute scientists use revolutionary method to block melanoma progression

Finding may aid in the design of potential therapies for thyroid problems

Research could lead to new treatment for Rett Syndrome, other forms of autism

New strategy may reduce growth of pancreatic cancers in patients with KRAS gene mutation

UA researchers find genetic mutations associated with respiratory disease

UTA researchers map out chemical mechanism of key enzyme found in autism, Alzheimer's and Down syndrome

CTCA at Western announces launch of Phase II NivoPlus clinical trial

New gene editing technique could hinder retinal degeneration in rats with inherited blindness

Auranofin drug could improve prognosis for ovarian cancer patients exhibiting BRCA1 deficiency

NUS-led study discovers potential therapeutic approach against colorectal cancer

Industry Focus eBook - Cell & Gene Therapy (1st Edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News