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Role for endogenous retrovirus proposed in ALS pathogenesis

Expression of the human endogenous retrovirus-K is upregulated in some patients with sporadic amyotrophic lateral sclerosis and causes degeneration of motor neurons when overexpressed in mice, research shows.

9 Oct 2015

Scientists calculate precise measurements of heritability in nine pediatric-onset autoimmune diseases

Scientists have calculated more precise measurements of heritability--the influence of underlying genes--in nine autoimmune diseases that begin in childhood. The research may strengthen researchers' abilities to better predict a child's risk for associated autoimmune diseases.

9 Oct 2015

Scientists map EGFRvIII mutant that causes brain cancer

A team of Ludwig Cancer Research scientists has mapped out how a mutant version of the epidermal growth factor receptor (EGFR) known as EGFRvIII specifically drives critical processes that alter the reading of the genome to fuel the growth of the brain cancer glioblastoma multiforme (GBM) and--most important--how each process is linked to the other.

9 Oct 2015

Researchers reveal new subtypes of invasive lobular carcinoma

Researchers from the UNC Lineberger Comprehensive Cancer Center and other academic centers have revealed new subtypes of invasive lobular carcinoma, the second most commonly diagnosed invasive breast cancer type. The findings could lead to personalized treatment approaches for the disease.

9 Oct 2015

Penn study forms basis for new treatment approaches for Sezary syndrome

Sezary syndrome (SS), an aggressive leukemia of mature T cells, is more complicated at a molecular level than ever suspected, according to investigators from the Perelman School of Medicine at the University of Pennsylvania.

8 Oct 2015

Dr. Paul Liu named 2015 Distinguished Alumnus for contributions to leukemia research

In his laboratory in the National Human Genome Research Institute in Bethesda, Md., Paul Liu, M.D., Ph.D., is working on targeted treatments for leukemia, a life-threatening blood cancer.

8 Oct 2015

UCSD researchers develop new microbiome analysis platform

The human microbiome -- the total collection of bacteria, viruses and other microorganisms living in and on your body -- has been linked to a variety of health and disease states, including obesity, allergies, asthma, and a rapidly growing list of other conditions. But as researchers try to sort out the complex relationship between microbial populations and human health and use that information to diagnose or treat disease, they are generating a deluge of microbial sequence data that first needs to be organized and analyzed.

8 Oct 2015

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

Claritas Genomics, Inc., announced the launch of its Claritas Clinical Exome, at the Annual Meeting of the American Society of Human Genetics running 10/6 – 10/10 in Baltimore, MD. This novel diagnostic test is the first to exploit the strengths of multiple DNA sequencing platforms simultaneously to deliver confirmed results for a patient’s clinical whole exome within 4 weeks, compared to the industry standard of 12 weeks or more. Patients with rare disease typically seek a diagnosis for 8-12 years, receiving 3-5 separate tests at a high cost.

7 Oct 2015

New diagnostic technology based on computer algorithms can quickly identify source of cancer

In by far the majority of cancer cases, the doctor can quickly identify the source of the disease, for example cancer of the liver, lungs, etc. However, in about one in 20 cases, the doctor can confirm that the patient has cancer—but cannot find the source. These patients then face the prospect of a long wait with numerous diagnostic tests and attempts to locate the origin of the cancer before starting any treatment.

7 Oct 2015

Study describes new genome screen that identifies partner molecules of cell-waste disposal proteins

Rhythmic expression of key genes is essential for maintaining proper timekeeping of the body's clock. In addition, rhythmic degradation of clockwork proteins is also crucial. However, surprisingly, researchers know little about these specific processes.

7 Oct 2015

Two researchers awarded NIH's New Innovator and Early Independence Awards

Two researchers, Martin Jonikas of Carnegie's Department of Plant Biology and Zhao Zhang of the Department of Embryology, have been awarded the New Innovator and Early Independence Awards, respectively, from the National Institutes of Health.

7 Oct 2015

Jumping genes: a marker for early cancer diagnosis? An interview with Dr Kazazian

In the genome of every human being, there are about 80-100 active LINE-1s that are capable of mobilizing by a copy and paste mechanism to a new location in the genome.

6 Oct 2015

Epilepsy Society becomes third customer of Complete Genomics' newly introduced Revolocity system

Complete Genomics, Inc., a leader in whole human genome sequencing, announced today that leading UK charity Epilepsy Society has become the third customer of the company's newly introduced Revolocity system, a supersequencer for large-scale, high-quality whole genome and whole exome sequencing.

6 Oct 2015

WuXi NextCODE, Sidra partner to provide comprehensive research and bioinformatics programs in Qatar

WuXi NextCODE, a precision medicine company using the genome to improve health worldwide, and Sidra Medical and Research Center, a groundbreaking hospital, research and education institution, today announced a broad, long-term agreement to provide and co-develop comprehensive research and bioinformatics programs.

6 Oct 2015

IU-led scientists discover new gene that increases Alzheimer's disease risk

In a newly published study, a multi-institutional team led by scientists at the Indiana University School of Medicine have discovered an immune system gene associated with higher rates of amyloid plaque buildup in the brains of Alzheimer's patients and older adults at risk for the disease.

6 Oct 2015

Sonic hedgehog gene maintains normal physiological state and repair process of adult lungs

The whimsically named sonic hedgehog gene, best known for controlling embryonic development, also maintains the normal physiological state and repair process of an adult healthy lung, if damaged, according to new research from the Perelman School of Medicine at the University of Pennsylvania published online this week in Nature in advance of the print edition.

6 Oct 2015

Novel computational strategy may help identify genetic variants that cause disease in children

The team behind the Deciphering Developmental Disorders (DDD) Study, one of the world's largest nationwide rare disease genome-wide sequencing initiatives, have developed a novel computational approach to identify genetic variants that cause disease in young children.

6 Oct 2015

New test capable of detecting all viruses that affect people and animals

A new, super-sensitive test has been developed that can detect virtually any virus that causes illness in humans and animals, according to researchers at Washington University School of Medicine in St. Louis.

1 Oct 2015

Early genetic diagnosis in neonatal diabetes a ‘new framework for clinical care’

Early genetic testing of babies with suspected neonatal diabetes identifies the underlying cause in more than 80% of cases, say researchers.

1 Oct 2015

International team of scientists create world's largest catalog of genomic variations among humans

An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with powerful clues to help them establish why some people are susceptible to various diseases. While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders.

1 Oct 2015

Genome News and Research

Role for endogenous retrovirus proposed in ALS pathogenesis

Scientists calculate precise measurements of heritability in nine pediatric-onset autoimmune diseases

Scientists map EGFRvIII mutant that causes brain cancer

Researchers reveal new subtypes of invasive lobular carcinoma

Penn study forms basis for new treatment approaches for Sezary syndrome

Dr. Paul Liu named 2015 Distinguished Alumnus for contributions to leukemia research

UCSD researchers develop new microbiome analysis platform

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

New diagnostic technology based on computer algorithms can quickly identify source of cancer

Study describes new genome screen that identifies partner molecules of cell-waste disposal proteins

Two researchers awarded NIH's New Innovator and Early Independence Awards

Jumping genes: a marker for early cancer diagnosis? An interview with Dr Kazazian

Epilepsy Society becomes third customer of Complete Genomics' newly introduced Revolocity system

WuXi NextCODE, Sidra partner to provide comprehensive research and bioinformatics programs in Qatar

IU-led scientists discover new gene that increases Alzheimer's disease risk

Sonic hedgehog gene maintains normal physiological state and repair process of adult lungs

Novel computational strategy may help identify genetic variants that cause disease in children

New test capable of detecting all viruses that affect people and animals

Early genetic diagnosis in neonatal diabetes a ‘new framework for clinical care’

International team of scientists create world's largest catalog of genomic variations among humans

Genetics & Genomics - Second Edition eBook

Lab Matters host Harriet Gould on building a more connected lab community

The Critical Role of Sample Storage in Drug Discovery and Development

Advancing Neuroscience Research Through Collaboration and Patient-Centered Innovation

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