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Penn study suggests future precision medicine approach to treating diabetes, other metabolic disorders

In the first study of its kind, Penn researchers have shown how an anti-diabetic drug can have variable effects depending on small natural differences in DNA sequence between individuals. Mitchell Lazar, MD, PhD, Raymond Soccio, MD, PhD, and colleagues at the Perelman School of Medicine at the University of Pennsylvania, aim to apply this knowledge to develop personalized approaches to treating diabetes and other metabolic disorders.

3 Jul 2015

DTC genetic testing has negative consequences in children

A woman coping with the burden of familial breast cancer can't help but wonder if her young daughter will suffer the same fate. Has she inherited the same disease-causing mutation? Is it best to be prepared for the future, or to wait? During the last decade, genetic tests have been through a sea change, both in their availability and the technologies behind them. Today there are at least 34 companies that offer direct to consumer (DTC) DNA testing, some of which return health results. And now it is possible to sequence someone's entire genetic code for the price of a laptop.

3 Jul 2015

Researchers discover link between acute liver failure and specific gene mutations in young children

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München, the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

3 Jul 2015

Researchers establish link between NBAS gene and acute liver failure

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München (TUM), the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

2 Jul 2015

New research links mutations in TEX11 gene to some cases of male infertility

In the most severe form of male infertility, men do not make any measurable levels of sperm. This condition, called azoospermia, affects approximately 1 percent of the male population and is responsible for about a sixth of cases of male infertility.

2 Jul 2015

HIV capsid protein plays crucial role in the virus' life cycle

HIV, or human immunodeficiency virus, is the retrovirus that leads to acquired immunodeficiency syndrome or AIDS. Globally, about 35 million people are living with HIV, which constantly adapts and mutates creating challenges for researchers. Now, scientists at the University of Missouri are gaining a clearer idea of what a key protein in HIV looks like, which will help explain its vital role in the virus' life cycle.

2 Jul 2015

Brain-imaging studies may help predict promiscuity, problem drinking in young adults

A pair of brain-imaging studies suggest researchers may be able to predict how likely young adults are to develop problem drinking or engage in risky sexual behavior in response to stress.

2 Jul 2015

Researchers receive $1.35 million grant to study how influenza virus passes from birds to humans

An international research team led by Lukas Tamm of the University of Virginia School of Medicine will receive $1.35 million from the Human Frontier Science Program Organization to better understand how the influenza virus passes from birds to humans.

2 Jul 2015

University of Oslo researchers find the cause of coeliac disease

Professor Ludvig M. Sollid and his colleagues at the University of Oslo have found the cause of coeliac disease. To do so required really going into depth, right down to molecular level.

1 Jul 2015

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

The American Society of Human Genetics (ASHG) has named Robert L. Nussbaum, M.D., chief medical officer of invitae and clinical professor of medicine (volunteer) at the University of California, San Francisco (UCSF); Roderick R. McInnes, CM, M.D., Ph.D., director of the Lady Davis Institute at the Jewish General Hospital and Alva chair in human genetics, Canada Research chair in neurogenetics, and professor of human genetics and biochemistry at McGill University; and Huntington F. Willard, Ph.D., president and director of the Marine Biological Laboratory and professor of human genetics at the University of Chicago; as the 2015 recipients of its annual Award for Excellence in Human Genetics Education.

1 Jul 2015

7th Annual Personalized & Precision Medicine Conference to be held in Baltimore from Oct. 5 to 6, 2015

Arrowhead's 7th Annual Personalized & Precision Medicine Conference is coming to Baltimore, MD on October 5-6, 2015 as an official satellite event to the American Society for Human Genetics Annual Meeting.

30 Jun 2015

Researchers explore why some mutations can cause severe disease in humans, but benign in animals

Researchers at Duke University School of Medicine and Brigham and Women's Hospital, Harvard Medical School have identified a mechanism that explains why some mutations can be disease-causing in one genome but benign in another.

30 Jun 2015

Bacterial ‘fight club’ approach effective for finding new drugs from natural sources

Creating bacterial "fight clubs" is an effective way to find new drugs from natural sources. That is the conclusion of a team of Vanderbilt chemists who have been exploring ways to get bacteria to produce biologically active chemicals that they normally hold in reserve. These compounds are called secondary metabolites.

30 Jun 2015

Researchers identify better way to screen for lung cancer

The Valley Hospital in Ridgewood, NJ, is pleased to announce that two of its oncologists and a research scientist are helping pave the way to an easier, more accurate, less invasive way to screen for the most common form of lung cancer. Lung cancer is the most common cancer in men worldwide and the number one cancer killer in the United States.

30 Jun 2015

Scientists develop high-throughput strategy to build de novo genomes

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled researchers to detect complex forms of genomic variation, critically important for their association with human disease, but previously difficult to detect.

30 Jun 2015

Researchers discover gene locations affecting wrist bones in children

Pediatric researchers have discovered gene locations affecting bone strength in wrist bones, the most common site for fractures in children. Children who have those genetic variants may be at higher-than-average risk of wrist fractures, and could especially benefit from activities and diets that promote bone strength.

30 Jun 2015

Study may help find strategies to control mosquito populations

Every time you put on bug spray this summer, you're launching a strike in the ongoing war between humans and mosquitoes -- one that is rapidly driving the evolution of the pests. Scientists studying mosquitoes in various types of environments in the United States and in Russia found that between 5 and 20 percent of a mosquito population's genome is subject to evolutionary pressures at any given time -- creating a strong signature of local adaptation to environment and humans.

26 Jun 2015

Broad Institute teams up with Google to increase access to research tools

Broad Institute of MIT and Harvard is teaming up with Google Genomics to explore how to break down major technical barriers that increasingly hinder biomedical research by addressing the need for computing infrastructure to store and process enormous datasets, and by creating tools to analyze such data and unravel long-standing mysteries about human health.

24 Jun 2015

Johns Hopkins researchers identify multiple genetic changes that may increase risk of pancreatic cancer

In a genome-wide association study believed to be the largest of its kind, Johns Hopkins researchers have uncovered four regions in the human genome where changes may increase the risk of pancreatic cancer.

24 Jun 2015

PolyU develops novel big data analysis platform for analyzing interactions among cancer genes

The Hong Kong Polytechnic University has achieved a breakthrough in the cancer genomics by developing a novel big data analysis platform for analyzing the interactions among genes. The analysis platform unveils the unregulated patterns of gene network in cancer and discovers potential diagnostic and therapeutic target genes, Nucleophosmin (NPM1) and its associated genes, in Chronic Myelogenous Leukemia (CML).

24 Jun 2015

Genome News and Research

Penn study suggests future precision medicine approach to treating diabetes, other metabolic disorders

DTC genetic testing has negative consequences in children

Researchers discover link between acute liver failure and specific gene mutations in young children

Researchers establish link between NBAS gene and acute liver failure

New research links mutations in TEX11 gene to some cases of male infertility

HIV capsid protein plays crucial role in the virus' life cycle

Brain-imaging studies may help predict promiscuity, problem drinking in young adults

Researchers receive $1.35 million grant to study how influenza virus passes from birds to humans

University of Oslo researchers find the cause of coeliac disease

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

7th Annual Personalized & Precision Medicine Conference to be held in Baltimore from Oct. 5 to 6, 2015

Researchers explore why some mutations can cause severe disease in humans, but benign in animals

Bacterial ‘fight club’ approach effective for finding new drugs from natural sources

Researchers identify better way to screen for lung cancer

Scientists develop high-throughput strategy to build de novo genomes

Researchers discover gene locations affecting wrist bones in children

Study may help find strategies to control mosquito populations

Broad Institute teams up with Google to increase access to research tools

Johns Hopkins researchers identify multiple genetic changes that may increase risk of pancreatic cancer

PolyU develops novel big data analysis platform for analyzing interactions among cancer genes

The art of CRISPR: The power and promise of gene editing eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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