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New drug treatment could reduce body weight in obese patients with rare genetic disorder

As part of a phase II study at Charité - Universitätsmedizin Berlin and the Berlin Institute of Health, two obese patients with a rare genetic disorder were given a drug treatment to stimulate the satiety center in the brain.

3 Aug 2016

New Valley Fever testing technology developed by TGen and NAU receives U.S. patent

Valley Fever, a potentially deadly dust-borne fungal disease, should be easier to diagnose and treat thanks to a testing technology developed by the Translational Genomics Research Institute and Northern Arizona University, and now protected by a patent issued today by the U.S. Patent and Trademark Office.

3 Aug 2016

Hyperkyphosis may be passed on from parents to children

Researchers from the Harvard affiliated Hebrew SeniorLife Institute for Aging Research recently published a study in the Journal of Bone and Mineral Research, suggesting that hyperkyphosis may be heritable, or passed on from parents to offspring.

3 Aug 2016

Penn's ADCC receives $8.8 million grant to continue research on treatment for AD and related dementias

The University of Pennsylvania's Alzheimer's Disease Core Center has been awarded an estimated $8.8 million over five years from the National Institute on Aging to continue its mission of investigating mechanisms, diagnostics, treatments and strategies for Alzheimer's Disease (AD) and related dementias including Parkinson's disease (PD), Parkinson's disease dementia (PDD), Lewy Body dementia (LBD) and frontotemporal lobar degeneration (FTLD).

3 Aug 2016

Biologists discover male-harming mtDNA mutant that substantiates mother's curse hypothesis

There is new evidence that the "mother's curse" - the possibility that moms may transmit genes to their children that harm their sons but not their daughters - holds true in animals.

3 Aug 2016

E. coli bacteria capable of beneficial mutations at more variable rates than previously thought

Scientists studying how microbes evolve have long assumed that nearly all new genetic mutations get passed down at a predictable pace and usually without either helping or hurting the microbe in adapting to its environment.

2 Aug 2016

Lower weight late in life linked to greater risk for Alzheimer's disease

Researchers at Brigham and Women's Hospital and Massachusetts General Hospital have found an association between lower weight and more extensive deposits of the Alzheimer's-associated protein beta-amyloid in the brains of cognitively normal older individuals.

2 Aug 2016

Next-generation sequencing to evaluate cell-free DNA yields more accurate results in diagnosis of MDS

Using next-generation sequencing (NGS) methods to analyze cell-free DNA in the blood of patients with myelodysplastic syndrome (MDS) yields more accurate results than the current standard approach of Sanger sequencing.

2 Aug 2016

Researchers identify crucial innate immunity role for gene linked to ARC syndrome in children

UT Southwestern Medical Center researchers have found an important innate immunity role for a gene linked to a rare, fatal syndrome in children. Their study has implications for a much more common disease: tuberculosis.

2 Aug 2016

Scientists develop model using transformed stem cells to accelerate screening of drugs for rare cancers

Researchers at the Johns Hopkins Kimmel Cancer Center say they have developed a system that uses transformed human stem cells to speed up screening of existing drugs that might work against rare brain and other cancers.

2 Aug 2016

New review proposes neuroscience-based framework for diagnosis of addictive disorders

When it comes to an addictive disorder, you either have it or you don't. But this dichotomous nature of the diagnosis fails to recognize the complexity and diversity of addiction's origins and manifestation in people.

2 Aug 2016

Paternal over-nutrition may lead to generational obesity and metabolic dysfunction

Paternal intake of a high-fat diet (HFD) can cause genetic changes that lead to generational obesity and metabolic dysfunction—including body weight and fat mass increases and changes in blood pressure, triglyceride levels and fat metabolism—in mice, according to Japanese researchers at Okayama University.

2 Aug 2016

Researchers use machine-learning approach to predict autism risk genes

Princeton University and Simons Foundation researchers have developed a machine-learning approach that for the first time analyzes the entire human genome to predict which genes may cause autism spectrum disorder, raising the number of genes that could be linked to the disorder from 65 to 2,500.

1 Aug 2016

Study finds mutations in three new genes can cause rare syndromic CHD disorders

Researchers at The University of Nottingham have been involved in one of the largest international studies of congenital heart disease, which has discovered gene mutations linked to three new rare congenital heart disorders (CHD).

1 Aug 2016

Cell-free DNA test could help identify liver transplant patients with acute rejection

Today, researchers presented findings at the 68th AACC Annual Scientific Meeting that DNA found circulating in the bloodstream—known as cell-free DNA—can be used to identify liver transplant patients with acute rejection with greater accuracy than conventional liver function tests.

1 Aug 2016

Overcoming gene silencing barriers to target neurological conditions: an interview with Dr Errol de Souza

Many gene mutations that cause neurological disorders have been identified. For example, in a rare neurological disorder such as Huntington’s disease, an autosomal dominant mutation through expansion of CAG (cytosine-adenine-guanine) triplet repeats in the gene coding for the Huntingtin protein results in abnormal protein production.

1 Aug 2016

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

Natera, Inc., a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, applauds the new guidelines just released by the American College of Medical Genetics and Genomics, supporting the use of non-invasive prenatal tests (NIPT/NIPS) as an optimal, initial option to screen for specific genetic conditions, such as Trisomy 21 (Down syndrome) during pregnancy.

From Natera 30 Jul 2016

NxGEN and NX Prenatal collaborate to develop blood test for identifying women at risk of preterm birth

In a collaborative move to expand their women's health screening and testing portfolios, NxGEN MDx, LLC., and NX Prenatal Inc., announced a joint partnership to collaborate on the development and deployment of a blood test to assess pregnancy biomarkers of preterm birth risk.

30 Jul 2016

Vaccination against single strain could confer protection against diverse Zika virus infections

Vaccination against a single strain of Zika virus should be sufficient to protect against genetically diverse strains of the virus, according to a study conducted by investigators from the National Institute of Allergy and Infectious Diseases, part of the National Institutes of Health; Washington University in St. Louis; and Emory University in Atlanta.

29 Jul 2016

Research shows clear link between heart and the brain of LQTS patients

Researchers at the University of Rochester Medical Center recently discovered a genetic link between Long QT Syndrome (LQTS), a rare cardiac rhythm disease, and an increased risk for seizures.

29 Jul 2016

Genetic News and Research

New drug treatment could reduce body weight in obese patients with rare genetic disorder

New Valley Fever testing technology developed by TGen and NAU receives U.S. patent

Hyperkyphosis may be passed on from parents to children

Penn's ADCC receives $8.8 million grant to continue research on treatment for AD and related dementias

Biologists discover male-harming mtDNA mutant that substantiates mother's curse hypothesis

E. coli bacteria capable of beneficial mutations at more variable rates than previously thought

Lower weight late in life linked to greater risk for Alzheimer's disease

Next-generation sequencing to evaluate cell-free DNA yields more accurate results in diagnosis of MDS

Researchers identify crucial innate immunity role for gene linked to ARC syndrome in children

Scientists develop model using transformed stem cells to accelerate screening of drugs for rare cancers

New review proposes neuroscience-based framework for diagnosis of addictive disorders

Paternal over-nutrition may lead to generational obesity and metabolic dysfunction

Researchers use machine-learning approach to predict autism risk genes

Study finds mutations in three new genes can cause rare syndromic CHD disorders

Cell-free DNA test could help identify liver transplant patients with acute rejection

Overcoming gene silencing barriers to target neurological conditions: an interview with Dr Errol de Souza

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

NxGEN and NX Prenatal collaborate to develop blood test for identifying women at risk of preterm birth

Vaccination against single strain could confer protection against diverse Zika virus infections

Research shows clear link between heart and the brain of LQTS patients

Genetics & Genomics - Second Edition 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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