Genetic News and Research

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New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

An International Osteoporosis Foundation Working Group on Skeletal Rare Diseases has published a new classification of rare genetic metabolic bone disorders (RGMBDs) according to their metabolic pathogenesis.

18 Jun 2015

Rare form of autoimmune syndrome may be tied to mutations in AIRE gene

A hereditary autoimmune disease that was thought to be exceedingly rare may have a less severe form that affects one in 1,000 people or even more, according to new research conducted at the Weizmann Institute of Science, in Israel, and the University of Bergen, in Norway.

18 Jun 2015

New technique could allow scientists to pinpoint areas on enzymes that drive chemical reactions

Researchers from Cardiff University have pioneered a new technique that will enable scientists to precisely pinpoint the areas on an enzyme that help to speed up chemical reactions.

18 Jun 2015

Australian researchers discover gene involved in muscular dystrophy

Australian researchers have made a critical discovery about a gene involved in muscular dystrophy that could lead to future therapies for the currently untreatable disease.

18 Jun 2015

New open access journal to deliver case reports on all aspects of pancreatic cancer

Case Reports in Pancreatic Cancer, a new peer-reviewed, open access journal from Mary Ann Liebert, Inc., publishers, will deliver authoritative case reports on all aspects of pancreatic cancer diagnosis, management, treatment, and outcomes.

17 Jun 2015

Ruhr-Universität Bochum scientists develop mouse model to investigate SCA6

Scientists at the Ruhr-Universität Bochum established a mouse model for the human disease SCA6. SCA6 is characterised by movement deficits and caused by similar genetic alterations as Chorea Huntington. The mouse model will be used to investigate the disease mechanisms.

17 Jun 2015

Breastfeeding Medicine editorial examines risks associated with Internet-purchased breast milk

The practice of breast milk sharing among mothers has evolved into an Internet-based marketplace in which this valuable commodity is being bought and sold not only to feed babies, but as a "natural superfood" for body builders and athletes.

17 Jun 2015

TGen, Phoenix Children's Hospital developing new methods to store and transport blood samples

The Translational Genomics Research Institute and Phoenix Children's Hospital are developing new economical methods of preserving, storing and transporting high-quality blood plasma proteins for use in diagnosing and treating disease.

17 Jun 2015

New DARPA grant supports Wyss Institute project that aims to fight gastrointestinal illness

For decades, American travelers to international destinations have been plagued by acute gastrointestinal illnesses that can arise from travel to other countries. The Center for Disease Control warns that depending on the destination, between 30 to 70 percent of travelers can expect to experience gastrointestinal distress from ingesting foreign or pathogenic bacteria that can be present in poorly sanitized water or food.

17 Jun 2015

Researchers reveal that Helicobacter pylori infection can lead to gastric cancer

Around half of the global population is chronically infected with the stomach bacterium Helicobacter pylori, almost 1 percent of whom go on to develop gastric adenocarcinoma, one of the deadliest forms of cancer. Usually it takes many decades for the cancer to develop, making it difficult to pinpoint exactly how it is linked to an infection.

17 Jun 2015

Women with significant depressive symptoms have lower levels of klotho hormone

Women under chronic stress have significantly lower levels of klotho, a hormone that regulates aging and enhances cognition, researchers at UC San Francisco have found in a study comparing mothers of children on the autism spectrum to low-stress controls.

17 Jun 2015

Nanoplatform technology that detects early stages of cancer receives U.S. patent

A U.S. patent has been awarded to a Kansas State University technology that quickly detects the early stages of cancer before physical symptoms ever appear.

17 Jun 2015

Researchers focus on novel techniques to combat global blood shortage

Red blood cells are the cells responsible for transporting oxygen to all the organs of the body. Red blood cells are the body's most common cell type: no less than 20 billion red blood cells die and are regenerated every day.

17 Jun 2015

Researchers create cell lines to study gene expression in precursor brown fat and white fat cells

Since the 2009 discovery that energy-burning brown fat can be active in adults, research has raced ahead to understand this tissue and exploit it to treat the epidemic of obesity. Active brown fat also may assist in directly easing the burden of diabetes and related metabolic diseases by lowering the levels of glucose and fatty acids in the bloodstream. But progress in studying human brown fat often has been slowed by difficulties in obtaining and studying samples of the human cells that develop into brown fat.

17 Jun 2015

Fruit flies helping FAU researchers to discover novel genes responsible for neuroprotection

They're pesky and annoying when they get into your fruit, but Drosophila melanogaster, more affectionately known as the "fruit fly," are helping researchers at Florida Atlantic University to discover novel genes that are responsible for neuroprotection.

17 Jun 2015

CQDM, OCE grant $1.5M to speed up drug discovery and development in Quebec-Ontario Life Sciences Corridor

CQDM and Ontario Centres of Excellence will fund five highly innovative and unconventional game-changing research and development projects to accelerate drug discovery in the Quebec-Ontario Life Sciences Corridor. Partners are granting $1.5M to Quebec-based and, for the first time, Ontario-based researchers thanks to the partnership with OCE through CQDM's 2014 Explore Program, one of CQDM's flagship programs focusing on early concept validation of cutting-edge technologies that address the most crucial needs in drug discovery and development.

17 Jun 2015

Pulmatrix announces new inhaled anti-infective therapy to treat CF-associated fungal infections

Pulmatrix, Inc., a clinical stage biopharmaceutical company developing innovative inhaled therapies for serious pulmonary diseases, today announced a new drug candidate, PUR1900, an inhaled anti-infective to treat fungal infections associated with cystic fibrosis (CF).

16 Jun 2015

Study highlights medical, health care challenges faced by African American lesbian or bisexual women

More than one third of African American lesbian or bisexual women reported a negative experience with a heathcare provider and many of those women did not seek medical care the next time they were ill, according to a study published in LGBT Health, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

16 Jun 2015

Vitamin D deficiency can leave people less able to fight HIV-1 infection

Vitamin D plays an important part in the human immune response and deficiency can leave individuals less able to fight infections like HIV-1. Now an international team of researchers has found that high-dose vitamin D supplementation can reverse the deficiency and also improve immune response.

16 Jun 2015

Study highlights discovery of genetic variants linked to mucinous ovarian carcinomas

New research by an international team including Keck Medicine of USC scientists is bringing the origins of ovarian cancer into sharper focus.

16 Jun 2015

Genetic News and Research

New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

Rare form of autoimmune syndrome may be tied to mutations in AIRE gene

New technique could allow scientists to pinpoint areas on enzymes that drive chemical reactions

Australian researchers discover gene involved in muscular dystrophy

New open access journal to deliver case reports on all aspects of pancreatic cancer

Ruhr-Universität Bochum scientists develop mouse model to investigate SCA6

Breastfeeding Medicine editorial examines risks associated with Internet-purchased breast milk

TGen, Phoenix Children's Hospital developing new methods to store and transport blood samples

New DARPA grant supports Wyss Institute project that aims to fight gastrointestinal illness

Researchers reveal that Helicobacter pylori infection can lead to gastric cancer

Women with significant depressive symptoms have lower levels of klotho hormone

Nanoplatform technology that detects early stages of cancer receives U.S. patent

Researchers focus on novel techniques to combat global blood shortage

Researchers create cell lines to study gene expression in precursor brown fat and white fat cells

Fruit flies helping FAU researchers to discover novel genes responsible for neuroprotection

CQDM, OCE grant $1.5M to speed up drug discovery and development in Quebec-Ontario Life Sciences Corridor

Pulmatrix announces new inhaled anti-infective therapy to treat CF-associated fungal infections

Study highlights medical, health care challenges faced by African American lesbian or bisexual women

Vitamin D deficiency can leave people less able to fight HIV-1 infection

Study highlights discovery of genetic variants linked to mucinous ovarian carcinomas

eBook: Using iPSCs models for human disease research and drug discovery eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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