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More support for amyloidosis as earliest AD biomarker

A longitudinal study of people with autosomal dominant Alzheimer’s disease shows that β-amyloid deposition begins well before neurodegeneration and cognitive decline.

2 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 imaging technique helps pinpoint significant event that leads to age-related chromosomal errors

When egg cells form with an incorrect number of chromosomes--a problem that increases with age--the result is usually a miscarriage or a genetic disease such as Down syndrome.

2 Jul 2015

Study demonstrates the important role of placebo effect in medical care

The "placebo effect" is often described as events that occur when patients show improvement from treatments that contain no active ingredients.

2 Jul 2015

New NEI study shows that microglia can accelerate damage wrought by blinding eye disorders

Spider-like cells inside the brain, spinal cord and eye hunt for invaders, capturing and then devouring them. These cells, called microglia, often play a beneficial role by helping to clear trash and protect the central nervous system against infection. But a new study by researchers at the National Eye Institute (NEI) shows that they also accelerate damage wrought by blinding eye disorders, such as retinitis pigmentosa.

2 Jul 2015

UTHealth researchers discover new light-activated proteins that work as 'off switches' for brain cells

Light switches for neurons have made enormous contributions to brain research by giving investigators access to "on switches" for brain cells. But, finding "off switches" has been much more challenging.

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

Histones steadily replaced in brain cells throughout life, find Mount Sinai researchers

For decades, researchers in the genetics field have theorized that the protein spools around which DNA is wound, histones, remain constant in the brain, never changing after development in the womb.

2 Jul 2015

Study of genetic mutations could lead to optimized treatment plans for aplastic anemia patients

Scientists have identified a group of genetic mutations in patients with aplastic anemia, which likely will help doctors optimize treatment for this rare and deadly blood condition. The study, appearing in the New England Journal of Medicine, could lead to tailor-made treatment plans for aplastic anemia patients as part of the emerging precision medicine movement.

2 Jul 2015

Concert Pharmaceuticals’ precision deuteration platform can enhance metabolic properties of drugs

Substituting deuterium for certain hydrogen atoms in molecules has been shown to enhance the metabolic properties of a number of drugs and provides a promising approach to the discovery and development of innovative drug products.

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

Researchers complete phase 1 clinical trial of new drug for children suffering from neuroblastoma

Researchers at Spectrum Health Helen DeVos Children's Hospital have completed the first clinical trial of a new treatment for children suffering from neuroblastoma. In a clinical trial led by Giselle Sholler, MD, pediatric oncologist at Helen DeVos Children's Hospital and the Neuroblastoma and Medulloblastoma Translational Research Consortium (NMTRC), DFMO, an investigational agent, showed minimal side effects with long-term survival of three patients.

2 Jul 2015

Comorbid anxiety ‘a crucial target’ for treatment in bipolar disorder

Almost half of patients with bipolar disorder will have comorbid anxiety disorder in their lifetime, show the findings of a systematic review and meta-analysis.

1 Jul 2015

R. Rodney Howell receives ASHG’s annual Advocacy Award

The American Society of Human Genetics (ASHG) has named R. Rodney Howell, MD, Professor in the Department of Pediatrics, Chairman Emeritus of Pediatrics, and Member of the Hussman Institute for Human Genomics, at the University of Miami Leonard M. Miller School of Medicine, as the first recipient of its new, annual Advocacy Award.

1 Jul 2015

Law enforcement now has Snapshot DNA Phenotyping Service that helps nab suspects, close cases

Law enforcement now has a new DNA tool that helps nab suspects and close cases. The service, developed by Parabon NanoLabs of Reston, Virginia, is called Snapshot DNA Phenotyping Service. 'Snapshot' predicts the physical appearance of individuals from the smallest of DNA evidence samples, creating a composite image from any DNA source.

1 Jul 2015

Academy for Eating Disorders opposes proposed EEOC policy interpretation

The Academy for Eating Disorders has joined with significant national and international medical associations opposing a proposed Equal Employment Opportunity Commission (EEOC) policy interpretation that would allow employers to inquire about employees' private genetic or medical data.

1 Jul 2015

Study offers potential ways to preserve muscle mass and strength for people in low-resistance environments

It is well known that muscles need resistance (gravity) to maintain optimal health, and when they do not have this resistance, they deteriorate. A new report published in the July 2015 issue of The FASEB Journal, however, suggests that this might not be true for all muscles, offering hope that there may be ways to preserve muscle mass and strength for individuals in low-resistance environments, whether it be the microgravity of space, extended periods in a hospital bed, or a 9-5 job behind a desk.

1 Jul 2015

Scientists identify new protein that affects growth of secondary breast tumours in the brain

Scientists from the University of Leeds and The Institute of Cancer Research, London, have discovered a new protein which triggers the growth of blood vessels in breast cancer tumours which have spread to the brain, a common location which breast cancer can spread to.

1 Jul 2015

Damon Runyon creates new award to increase number of physician-scientists

Physician-scientists are crucial to moving scientific discoveries from the lab to patients, but their numbers have been dwindling just when they are needed most, particularly in cancer research, as the number of cancer cases is projected to increase by 45 percent in the next fifteen years and elevate cancer to the leading cause of death in America.

1 Jul 2015

Study: Around 6% survive cardiac arrest outside of hospital setting

Cardiac arrest strikes almost 600,000 people each year, killing the vast majority of those individuals, says a new report from the Institute of Medicine. Every year in the U.S., approximately 395,000 cases of cardiac arrest occur outside of a hospital setting, in which less than 6 percent survive. Approximately 200,000 cardiac arrests occur each year in hospitals, and 24 percent of those patients survive. Estimates suggest that cardiac arrest is the third leading cause of death in the U.S. behind cancer and heart disease.

1 Jul 2015

Genetic News and Research

More support for amyloidosis as earliest AD biomarker

Researchers establish link between NBAS gene and acute liver failure

New imaging technique helps pinpoint significant event that leads to age-related chromosomal errors

Study demonstrates the important role of placebo effect in medical care

New NEI study shows that microglia can accelerate damage wrought by blinding eye disorders

UTHealth researchers discover new light-activated proteins that work as 'off switches' for brain cells

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

Histones steadily replaced in brain cells throughout life, find Mount Sinai researchers

Study of genetic mutations could lead to optimized treatment plans for aplastic anemia patients

Concert Pharmaceuticals’ precision deuteration platform can enhance metabolic properties of drugs

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

Researchers complete phase 1 clinical trial of new drug for children suffering from neuroblastoma

Comorbid anxiety ‘a crucial target’ for treatment in bipolar disorder

R. Rodney Howell receives ASHG’s annual Advocacy Award

Law enforcement now has Snapshot DNA Phenotyping Service that helps nab suspects, close cases

Academy for Eating Disorders opposes proposed EEOC policy interpretation

Study offers potential ways to preserve muscle mass and strength for people in low-resistance environments

Scientists identify new protein that affects growth of secondary breast tumours in the brain

Damon Runyon creates new award to increase number of physician-scientists

Study: Around 6% survive cardiac arrest outside of hospital setting

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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