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TMEM106B gene appears to protect against frontotemporal lobar degeneration

Neuroscientists had assumed that a mutation in the progranulin gene, which makes the progranulin protein and supports brain neurons, was sufficient to produce a kind of dementia known as frontotemporal lobar degeneration. But now an international team of scientists led by researchers at Mayo Clinic's campus in Florida have found another genetic factor they say appears to protect against the disorder in progranulin mutation carriers.

23 Dec 2010

Gene changes during brain development can lead to male genitalia formation in female embryo

Australian scientists have discovered that changes to a gene involved in brain development can lead to testis formation and male genitalia in an otherwise female embryo.

22 Dec 2010

New research sheds light on how neurons make connections with one another

Newly published research led by Professor Z. Josh Huang, Ph.D., of Cold Spring Harbor Laboratory sheds important new light on how neurons in the developing brain make connections with one another.

22 Dec 2010

86.9% of adults express support for melanoma genetic testing in minors

The vast majority of parents who tested positive for a genetic mutation that increases the risk of melanoma support genetic testing of their children or grandchildren.

22 Dec 2010

New genetic alteration predisposes individuals to Cowden syndrome

Researchers have identified a new genetic alteration that predisposes individuals to Cowden syndrome, a rare disorder that is characterized by high risks of breast, thyroid and other cancers, according to preliminary research published in the December 22/29 issue of JAMA.

21 Dec 2010

AutoGenomics introduces first automated molecular assay for Familial Mediterranean Fever

AutoGenomics, a leader in providing automated, molecular testing solutions, announced today that it has launched a new test for the identification of genetic mutations implicated in the development of Familial Mediterranean Fever (FMF). The INFINITI® Familial Mediterranean Fever Panel provides simultaneous multiplexed determination of 13 genetic variants common to more than 10 afflicted ethnicities of Mediterranean origin on the automated INFINITI® Analyzer. FMF is prominently present in the Armenian people, Sephardi Jews, Greeks, Arabs and Turks.

21 Dec 2010

Whites with mutations more likely to be susceptible to cocaine abuse

Nearly one in five whites could carry a genetic variant that substantially increases their odds of being susceptible to severe cocaine abuse, according to new research.

21 Dec 2010

Damon Runyon Cancer Research Foundation names first recipients of Frey Award for Breakthrough Scientists

The Damon Runyon Cancer Research Foundation, a non-profit organization focused on supporting innovative early career researchers, named the first recipients of the Dale F. Frey Award for Breakthrough Scientists. This new award provides additional funding to scientists completing a prestigious Damon Runyon Fellowship Award who have greatly exceeded the Foundation's highest expectations and are most likely to make paradigm-shifting breakthroughs that transform the way we prevent, diagnose and treat cancer.

21 Dec 2010

Study reveals novel role of adenosine signaling in sickle cell disease

Metabolon, Inc., the leader in metabolomics, biomarker discovery and analysis, announces the publication of "Novel Role of Adenosine Signaling in Sickle Cell Disease", in Nature Medicine. Application of non-targeted biochemical profiling (metabolomics) to a mouse model of sickle cell disease (SCD) revealed a detrimental role of adenosine signaling in SCD and suggested novel therapeutic targets. The study was carried out in collaboration with The University of Texas Health Science Center at Houston.

21 Dec 2010

Genetic sequencing may serve as new diagnostic tool for unknown disease

A collaborative team of scientists and physicians at the Medical College of Wisconsin and Children's Hospital of Wisconsin uses genetic sequencing to identify and treat an unknown disease.

21 Dec 2010

New predictive medicine product for hereditary pancreatic and related cancers

Myriad Genetics, Inc. today announced the launch of PANEXIA™, a predictive medicine product for hereditary pancreatic and related cancers. PANEXIA is a comprehensive analysis of the PALB2 and BRCA2 genes for assessing a person's risk of developing pancreatic cancer later in life. PANEXIA, Myriad's ninth molecular diagnostic product, is the second product launched by the Company this year.

21 Dec 2010

Exome sequencing leads to correct diagnosis and life-saving treatment for mysterious genetic disorder

A genetic testing approach called exome sequencing—which provides a clinically practical alternative to whole-genome sequencing—led to correct diagnosis and life-saving treatment in a child with a previously unknown genetic disease, reports an upcoming paper in Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

21 Dec 2010

Spartan RX CYP2C19 DNA testing system receives European CE Mark certification

Spartan Bioscience Inc., a privately held molecular diagnostics company that develops, manufactures, and markets DNA testing systems for on-demand applications, today announced its Spartan RX CYP2C19 received a CE IVD Mark under the European Directive on In Vitro Diagnostic Medical Devices. The CE Mark certification allows commercial distribution in Europe as well as in all countries recognizing the CE Mark in the Middle East, Africa, Latin America, and Asia-Pacific regions.

20 Dec 2010

Oncothyreon commences combination PX-866/cetuximab Phase 1/2 trial in cancers

Oncothyreon Inc. today announced enrollment of the first patient in a Phase 1/2 trial of PX-866 in combination with the chimeric monoclonal antibody cetuximab (Erbitux®). PX-866 is a small molecule compound designed to inhibit the activity of phosphatidylinositol-3-kinase (PI-3K), a component of an important cell survival signaling pathway.

20 Dec 2010

Study finds second skin barrier structure may play a role in eczema development

Like a fence or barricade intended to stop unwanted intruders, the skin serves as a barrier protecting the body from the hundreds of allergens, irritants, pollutants and microbes people come in contact with every day.

20 Dec 2010

Bio-IS and HSS sign 5-year partnership to deliver Bio-Intervention Disinfection Service to hospitals

Bio-Intervention Specialists (Bio-IS) and HSS Inc. (HSS) announced today that their companies have signed a five-year partnership to deliver the Bio-Intervention Disinfection Service to hospitals across the United States.

17 Dec 2010

Researchers contribute important expertise to new landmark study of medulloblastoma

Pediatric cancer researchers at The Children's Hospital of Philadelphia contributed important expertise to a new landmark study of medulloblastoma, a type of brain tumor typically found in children. The large multicenter study defines the genetic landscape of this cancer, and holds intriguing clues to gene changes on signaling pathways that may become fruitful targets for future therapies.

17 Dec 2010

Prions responsible for BSE can survive in new host environment

Scientists from the Florida campus of The Scripps Research Institute have shown that prions, bits of infectious protein that can cause fatal neurodegenerative disease such as bovine spongiform encephalopathy or "mad cow disease," have the ability to adapt to survive in a new host environment.

17 Dec 2010

Pediatric cancer researchers study medulloblastoma for new treatment

Pediatric cancer researchers at The Children's Hospital of Philadelphia contributed important expertise to a new landmark study of medulloblastoma, a type of brain tumor typically found in children.

17 Dec 2010

Iowa moves forward on health exchange; Texas medical school highlights geriatrics; Concerns grow about prisoners' mental health needs

Republican lawmakers on the state level are largely against the new health reform law—but they aren't against all of the behemoth legislation. Virginia dominated headlines this week when a federal judge ruled the individual mandate to buy insurance unconstitutional on Monday. Much less noticed: the very next day, a task force appointed by Republican Gov. Bob McDonnell recommended that the state implement a health insurance exchange earlier than federal guidelines require (Kliff, 12/16).

17 Dec 2010