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Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

The genetics research group led by Professor Hannes Lohi, based at the University of Helsinki and the Folkh-lsan Research Center, has, in collaboration with Adjunct Professor Kirsi Sainio's research group, discovered the cause of a life-threatening skeletal disorder affecting Brazilian Terriers. The disease is caused by a mutation in the GUSB gene.

7 Aug 2012

Children of U.S.-born Latina women more likely to develop retinoblastoma

In a large epidemiologic study, researchers at UCLA's Jonsson Cancer Center found that the children of U.S.-born Latina women are at higher risk of having retinoblastoma, a malignant tumor of the retina which typically occurs in children under six.

7 Aug 2012

Changes in monocytes are biomarker for amyotrophic lateral sclerosis

Researchers from Brigham and Women's Hospital (BWH) are the first to discover that changes in monocytes (a type of white blood cell) are a biomarker for amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. This finding also brings the medical community a step closer toward a new treatment for the debilitating neurological disease that affects approximately 30,000 Americans.

7 Aug 2012

Mutations in Ras gene alone may not cause tumours

Despite a huge amount of research effort, the molecular mechanisms that underlie the transition from a "normal" cell to a cancerous cell are only poorly understood. After the discovery of the first cancer-causing genes or oncogenes and the finding that they are mutated forms of normal cellular genes, it was widely believed that a single mutation was enough to cause cancer.

6 Aug 2012

Potential drug targets and prognostic markers for prostate cancer

Two proteins that act in opposing directions - one that promotes cancer and one that suppresses cancer - regulate the same set of genes in prostate cancer, Vanderbilt-Ingram Cancer Center researchers have found.

6 Aug 2012

NeoGenomics introduces new molecular assay that detects SF3B1 gene mutations

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today that it has validated and launched the first molecular assay for clinical use in the United States that detects mutations in the SF3B1 gene (splicing factor 3b, subunit 1).

6 Aug 2012

Clovis Oncology, Foundation Medicine enter diagnostic collaboration

Foundation Medicine, Inc. and Clovis Oncology, Inc. announced today that they have entered into a diagnostic collaboration.

6 Aug 2012

New sequencing approach can provide more effective method of BRCA1/2 mutational analysis

Individuals with mutations in BRCA1 and BRCA2 genes have a significantly higher risk of developing breast and ovarian cancers. Families at risk have been seeking genetic testing and counseling based on their mutation carrier status, but the standard method of direct sequencing is labor-intensive, costly, and it only targets a part of the BRCA1 and BRCA2 genes.

6 Aug 2012

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.

3 Aug 2012

New role for oncogenic signaling pathway in embryonic stem cell self-renewal

Researchers at Mount Sinai School of Medicine, the University of Manchester, and the MD Anderson Cancer Center have found a new role for an oncogenic signaling pathway in embryonic stem cell (ESC) self-renewal and in reprogramming adult cells into an ESC-state, which will aid in the development of future cancer therapies.

3 Aug 2012

DNA inherited from mother can speed up male ageing

Women outlive men by about five to six years but why? By age 85 there are roughly six women to every four men and by age 100 the ratio is more than two to one.

3 Aug 2012

Mechanism provides beneficial characteristics of energy-burning brown fat to white fat

Columbia University Medical Center (CUMC) researchers have identified a mechanism that can give energy-storing white fat some of the beneficial characteristics of energy-burning brown fat. The findings, based on studies of mice and of human fat tissue, could lead to new strategies for treating obesity and type 2 diabetes.

3 Aug 2012

Sta Op Tegen Kanker International Translational Cancer Research Grant recipients announced

Stand Up To Cancer (SU2C) and the Dutch Cancer Society (KWF Kankerbestrijding), along with the American Association for Cancer Research (AACR), SU2C's Scientific Partner, announce the recipients of the Sta Op Tegen Kanker International Translational Cancer Research Grant.

3 Aug 2012

Researchers identify how telomerase is recruited to chromosome ends

Stem cells are special. Nestled in muscle and skin, organ and bone, they bide their time over years or decades until called to replace damaged or lost tissue. One secret to their longevity is an enzyme called telomerase, which stills the relentless ticking of the molecular clock that limits the life span of other cells.

3 Aug 2012

SAGE Labs, Autism Speaks expand partnership to create first rat models for translational research

Autism Speaks, the world's leading autism science and advocacy organization, today announced its expanded collaboration with Sigma Advanced Genetic Engineering (SAGE) Labs, an initiative of Sigma- Life, to develop the first rat models with modified autism associated genes, intended to accelerate discovery and translational autism research.

3 Aug 2012

Anacardic acid can rescue some ALS phenotypes in vitro

A research group at the Center for iPS Cell Research and Application (CiRA) at Japan's Kyoto University has successfully recapitulated amyotrophic lateral sclerosis (ALS)-associated abnormalities in motor neurons differentiated from induced pluripotent stem cells (iPSCs) obtained from patients with familial ALS, a late-onset, fatal disorder which is also known for Lou Gehrig's disease. In a drug screening assay using the disease model, the team further found that the chemical compound anacardic acid can rescue some ALS phenotypes in vitro.

3 Aug 2012

Scientists link some cases of Essential Tremor to specific genetic problem

Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement.

3 Aug 2012

Investigational drug shows promise against most severe form of congenital hyperinsulinism

A pilot study in adolescents and adults has found that an investigational drug shows promise as the first potential medical treatment for children with the severest type of congenital hyperinsulinism, a rare but potentially devastating disease in which gene mutations cause insulin levels to become dangerously high.

2 Aug 2012

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

A trio of groundbreaking publications from researchers in Northwestern University's Physical Sciences-Oncology Center (PS-OC) report important methodological advances that will enable a better understanding of how gene expression is regulated, both in normal cells and in cancer cells. This knowledge could lead to the development of more effective therapeutic agents to treat cancer patients.

2 Aug 2012

Researchers discover genetic process that can restore function to a CF defective protein

Researchers at the University of Iowa Carver College of Medicine have discovered a genetic process that can restore function to a defective protein, which is the most common cause of cystic fibrosis (CF).

2 Aug 2012

Mutation News and Research

Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

Children of U.S.-born Latina women more likely to develop retinoblastoma

Changes in monocytes are biomarker for amyotrophic lateral sclerosis

Mutations in Ras gene alone may not cause tumours

Potential drug targets and prognostic markers for prostate cancer

NeoGenomics introduces new molecular assay that detects SF3B1 gene mutations

Clovis Oncology, Foundation Medicine enter diagnostic collaboration

New sequencing approach can provide more effective method of BRCA1/2 mutational analysis

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

New role for oncogenic signaling pathway in embryonic stem cell self-renewal

DNA inherited from mother can speed up male ageing

Mechanism provides beneficial characteristics of energy-burning brown fat to white fat

Sta Op Tegen Kanker International Translational Cancer Research Grant recipients announced

Researchers identify how telomerase is recruited to chromosome ends

SAGE Labs, Autism Speaks expand partnership to create first rat models for translational research

Anacardic acid can rescue some ALS phenotypes in vitro

Scientists link some cases of Essential Tremor to specific genetic problem

Investigational drug shows promise against most severe form of congenital hyperinsulinism

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

Researchers discover genetic process that can restore function to a CF defective protein

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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