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Study demonstrates rarity of familial hypercholesterolemia mutations in individuals with high cholesterol

Only a small fraction of people with very high cholesterol can attribute their condition to a genetic mutation related to familial hypercholesterolemia, but individuals with these mutations face a high risk of developing early-onset coronary artery disease, according to research presented at the American College of Cardiology's 65th Annual Scientific Session.

4 Apr 2016

Understanding idiopathic pulmonary fibrosis: an interview with Michael Durheim, M.D.

IPF is a rare and fatal lung disease that causes permanent scarring of the lungs, leading to debilitating shortness of breath and cough in affected patients. It affects as many as 132,000 Americans, most commonly those over the age of 65.

4 Apr 2016

Researchers develop novel vaccine strategy to protect against Chikungunya virus

The Chikungunya virus (CHIKV) is transmitted through mosquitoes and causes fever and joint pain that can sometimes become severe and disabling. Outbreaks of the virus have already occurred in Africa, Asia, and Europe, and in late 2013, the virus was first seen in the Americas with the number of cases dramatically increased. No vaccine to prevent or treat this virus currently exists.

2 Apr 2016

Lund researchers discover new biomarker that can predict type 2 diabetes risk

Researchers at Lund University in Sweden have found a new type of biomarker that can predict the risk of type 2 diabetes, by detecting epigenetic changes in specific genes through a simple blood test. The results are published today in Nature Communications.

2 Apr 2016

European researchers aim to spare people with type 1 diabetes from lifelong insulin therapy

More and more children in Europe and the USA are suffering from diabetes. A Group of European Researchers has now joined forces under the leadership of the Gothe University Frankfurt. They are searching for a new method in order to spare people with Diabetes type 1 from lifelong insulin therapy.

2 Apr 2016

Study links voluntary exercise during pregnancy to more physically active children

Baylor College of Medicine researchers have discovered that female mice that voluntarily exercise during pregnancy have offspring that are more physically active as adults. The research appears in The FASEB Journal.

1 Apr 2016

Tumor suppressor p53 gene twice as likely to be defective in autistic children

A large study by researchers with the UC Davis MIND Institute has found that a gene whose role is to suppress cellular damage from environmental stressors is nearly twice as likely to be defective in children with autism spectrum disorder (ASD), and that the deficit is also present in their fathers.

1 Apr 2016

Experimental urine test identifies 92% of men with elevated PSA levels

An experimental urine test that detects genetic changes associated with prostate cancer identified 92 percent of men with elevated PSA (prostate-specific antigen) levels who had high-grade cancers, according to a study published today in JAMA Oncology online.

1 Apr 2016

Study points to possible new genetic risk factor for celiac disease

Researchers have identified a common variant in a non-coding RNA that may contribute to the intestinal inflammation that occurs in people with celiac disease. The findings point to a possible new risk factor for developing celiac disease in people with celiac disease risk genes.

1 Apr 2016

DNA changes may affect a person's lifespan

Scientists have identified DNA changes that can cut a person's lifespan by up to three years.

31 Mar 2016

Remotely tracking patients' eye gaze could help identify children with ASD

A study to be published in the April 2016 issue of the Journal of the American Academy of Child and Adolescent Psychiatry reports that eye tracking can differentiate children with autism spectrum disorder (ASD) from children without ASD but with other developmental problems (non-ASD).

31 Mar 2016

Penn researchers discover molecular mechanism that underlies common cerebrovascular disease

Cerebral cavernous malformations (CCMs) are clusters of dilated, thin-walled blood vessels in the brain that can cause stroke and seizures, yet exactly how they form is somewhat of a mystery. Now, a team from the Perelman School of Medicine at the University of Pennsylvania has discovered the molecular mechanism that underlies this common cerebrovascular disease. They published their results this week online ahead of print in Nature.

31 Mar 2016

Scientists develop mouse model to gain new insights into genetic mechanisms underlying AML

A novel mouse model of a highly lethal form of acute myeloid leukemia (AML) offers a new tool for scientists working to better understand this disease and research new therapeutic targets.

31 Mar 2016

Two recently discovered compounds show promise for treating Ewing sarcoma in children

Two recently discovered compounds have shown promise in preclinical studies for treating Ewing sarcoma, a rare cancer that predominantly affects children and adolescents.

31 Mar 2016

LMU-led researchers define previously unknown signaling pathway that triggers inflammation

Using a combination of newly developed methods, researchers led by Ludwig-Maximilians-Universitaet (LMU) in Munich immunologist Veit Hornung have defined a previously unknown pathway that triggers inflammation.

31 Mar 2016

Scientists identify RingoA protein as key regulator of meiosis

Published today in Nature Communications, a study by scientists at the Institute for Research in Biomedicine headed by ICREA researcher Angel R. Nebreda has reported that the protein RingoA is a key regulator of meiosis--the cell division process that gives rise to ovules and sperm for sexual reproduction in mammals.

31 Mar 2016

Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

While childhood cancer is rare (adult malignancies after 20 years are 20-30 times more common in general) it remains a major cause of death by disease in children. 15,700 children are diagnosed with cancer each year in the USA.

31 Mar 2016

Myriad myRisk Hereditary Cancer test identifies 70% more deleterious mutations than BRCA1/2 testing alone

Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, working in collaboration with researchers from the Harvard Medical School, today announced that the Journal of Clinical Oncology has published a paper showing the frequency of germline mutations in 25 cancer susceptibility genes among patients with breast cancer.

31 Mar 2016

Putative male-determining gene discovery could help develop strategies to combat malaria

A group of scientists, including one from the University of California, Riverside, have discovered a long-hypothesized male determining gene in the mosquito species that carries malaria, laying the groundwork for the development of strategies that could help control the disease.

30 Mar 2016

Researchers to study people over 100 years old in Acciaroli, Italy to unlock secrets of healthy aging

The average life expectancy in the United States is approximately 78 years old. Americans live longer, with better diets and improved health care, than ever before, but only 0.02 percent will hit the century mark.

30 Mar 2016

Genetic News and Research

Study demonstrates rarity of familial hypercholesterolemia mutations in individuals with high cholesterol

Understanding idiopathic pulmonary fibrosis: an interview with Michael Durheim, M.D.

Researchers develop novel vaccine strategy to protect against Chikungunya virus

Lund researchers discover new biomarker that can predict type 2 diabetes risk

European researchers aim to spare people with type 1 diabetes from lifelong insulin therapy

Study links voluntary exercise during pregnancy to more physically active children

Tumor suppressor p53 gene twice as likely to be defective in autistic children

Experimental urine test identifies 92% of men with elevated PSA levels

Study points to possible new genetic risk factor for celiac disease

DNA changes may affect a person's lifespan

Remotely tracking patients' eye gaze could help identify children with ASD

Penn researchers discover molecular mechanism that underlies common cerebrovascular disease

Scientists develop mouse model to gain new insights into genetic mechanisms underlying AML

Two recently discovered compounds show promise for treating Ewing sarcoma in children

LMU-led researchers define previously unknown signaling pathway that triggers inflammation

Scientists identify RingoA protein as key regulator of meiosis

Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

Myriad myRisk Hereditary Cancer test identifies 70% more deleterious mutations than BRCA1/2 testing alone

Putative male-determining gene discovery could help develop strategies to combat malaria

Researchers to study people over 100 years old in Acciaroli, Italy to unlock secrets of healthy aging

Sequencing & Genomics: Elevating Science and Healthcare 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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