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Genetic mutation confers risk for development of Parkinson's disease earlier than usual

A collaboration of 32 researchers in seven countries, led by scientists at Mayo Clinic's campus in Florida, has found a genetic mutation they say confers a risk for development of Parkinson's disease earlier than usual.

3 Nov 2016

TSRI researchers uncover mechanism behind T cell exhaustion

In a new study with broad implications for treating cancers and chronic viral infections, scientists at The Scripps Research Institute (TSRI) have uncovered a mechanism behind a phenomenon called “T cell exhaustion.”

2 Nov 2016

Researchers find link between estrogen levels in lung tissue and SMLA in postmenopausal women

Thanks to advances in medical imaging, the detection rate for synchronous multiple lung adenocarcinoma (SMLA) has been on the rise. Cases of SMLA in Japanese women have been on the rise despite having a national smoking rate of less than 10% in recent years.

26 Oct 2016

Interactions between rare and common genetic variants may contribute to craniosynostosis

During the first year of life, the human brain doubles in size, and continues growing through adolescence.

8 Sep 2016

Scientists find way to use CRISPR/Cas9 technology to diagnose and inactivate cancer mutations

As for many other biomedical and biotechnology disciplines, the genome scissor "CRISPR/Cas9" also opens up completely new possibilities for cancer research.

31 Aug 2016

Long-term exposure to combination of lower LDL-C and SBP can reduce cardiovascular risk

Long-term exposure to the combination of even modestly lower LDL cholesterol (LDL-C) and systolic blood pressure (SBP) has the potential to "dramatically reduce" a person's lifetime risk of cardiovascular disease, according to new findings reported at ESC Congress 2016.

29 Aug 2016

Study shows Latinos age more slowly at molecular level than other ethnic groups

A new paper co-authored by a UC Santa Barbara researcher reveals that Latinos age at a slower rate than other ethnic groups. The findings, published in the current issue of Genome Biology, may one day help scientists understand how to slow the aging process for everyone.

24 Aug 2016

Preimplantation genetic screening using next generation sequencing: an interview with Dr Luis Alcaraz

PGS, Preimplantation Genetic Screening, is a genetic test that analyses biopsied cells from embryos produced by in vitro fertilization (IVF) techniques. PGS determines whether the embryos are chromosomally normal (euploid) or not (aneuploid), thus giving the chance to transfer chromosomally normal embryos that are more apt to successfully implant and develop into a pregnancy.

24 Aug 2016

Low selenium levels linked to liver cancer risk? An interview with Dr David Hughes

Food provides us with a variety of substances we need to maintain life. These substances are essential nutrients and are classified as macronutrients (water, protein, fats, and carbohydrates) and micronutrients (vitamins and minerals).

22 Aug 2016

NIH researchers design new set of assays for initial screening of patients with Fragile X syndrome

Fragile X syndrome, the most common heritable cause of intellectual disability and a frequent cause of autism, is characterized by abnormalities of the FMR1 gene that are difficult to analyze.

12 Aug 2016

Adding DNA sequencing to newborn screenings may increase early diagnosis of cystic fibrosis

A study by researchers at Children's Hospital Los Angeles, Brigham and Women's Hospital and the California Department of Public Health suggests that all babies with a known mutation for cystic fibrosis (CF) and second mutation called the 5T allele should receive additional screening in order to better predict the risk of developing CF later in life.

26 Jul 2016

High frequency of alleles could increase risk of lupus in non-Europeans

Non-Europeans have a higher frequency of the gene variants that increase the risk of lupus as compared to the European population, a new study from researchers at the National Institute for Health Research Biomedical Research Centre at Guy's and St Thomas' and King's College London, has confirmed.

11 Jul 2016

CYP2C19 gene variants undermine clopidogrel stroke prevention

The first look at CYP2C19 mutations in the context of a randomised controlled trial has confirmed suspicions that they affect the efficacy of clopidogrel in patients with acute stroke.

24 Jun 2016

Cerebral vessel disease increases Alzheimer's dementia risk

Cerebral vessel disease may be an under-recognised risk factor for Alzheimer's disease dementia, say researchers.

16 Jun 2016

Complex 36-point therapeutic personalized program can help reverse memory loss in early AD patients

Results from quantitative MRI and neuropsychological testing show unprecedented improvements in ten patients with early Alzheimer's disease (AD) or its precursors following treatment with a programmatic and personalized therapy. Results from an approach dubbed metabolic enhancement for neurodegeneration are now available online in the journal Aging.

16 Jun 2016

Study challenges notion of fear of weight gain in patients with anorexia nervosa

A study from Inserm, Paris Descartes University and Sainte Anne Hospital suggests that anorexia nervosa might not be explained by fear of gaining weight, but by the pleasure of losing it... and that the phenomenon might be genetically influenced.

8 Jun 2016

Cerebral microbleeds warn of dementia risk

A high cerebral microbleed count increases an individual's risk of cognitive deterioration and dementia, study results indicate.

8 Jun 2016

Research shows IFITM3 protein can block Zika virus from infecting human, mouse cells

Eight weeks after receiving their first samples of Zika virus, scientists at the University of Massachusetts Medical School have shown that a very small protein we all have in our bodies, interferon-induced protein 3 (IFITM3), can dramatically reduce the ability of Zika virus to infect human and mouse cells.

6 Jun 2016

HLA genetic risk burden extends to MS outcomes

Human leukocyte antigen alleles not only increase susceptibility to multiple sclerosis, but also influence the course of the disease, suggests research.

3 Jun 2016

Diet experiments on Lynch syndrome mouse model may help in early detection of colon cancer

Colorectal cancer is the second most common cause of cancer-related deaths in the Western world, mainly because it is usually diagnosed too late. Finding ways to identify those people who are at increased risk of developing colon cancer is therefore crucial, a researcher will tell the annual conference of the European Society of Human Genetics today.

23 May 2016