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Super-enhancers could play important roles in disease diagnostics and therapeutics

Having recently discovered a set of powerful gene regulators that control cell identity in a few mouse and human cell types, Whitehead Institute scientists are now showing that these regulators-which they named "super-enhancers"-act across a vast array of human cell types and are enriched in mutated regions of the genome that are closely associated with a broad spectrum of diseases.

11 Oct 2013

Two scientists from Gladstone Institutes recognized for their contributions to science, medicine

In an unprecedented move, the California Academy of Sciences today will induct two scientists from the Gladstone Institutes', President R. Sanders "Sandy" Williams, MD, and Investigator Katherine Pollard, PhD, as Academy Fellows, bestowing yet another honor on two of San Francisco's most esteemed scientists.

11 Oct 2013

Genetic mutation that protects skin from UV radiation may cause testicular cancer in Caucasian

A Ludwig Cancer Research study published in Cell today identifies a common mutation that dramatically increases the risk for testicular cancer—and describes a likely molecular mechanism by which it exerts that effect.

11 Oct 2013

Researchers identify gene that orchestrates important branching of nerve fibers

Our ability to detect heat, touch, tickling and other sensations depends on our sensory nerves. Now, for the first time, researchers at Albert Einstein College of Medicine of Yeshiva University have identified a gene that orchestrates the crucially important branching of nerve fibers that occurs during development. The findings were published online today in the journal Cell.

11 Oct 2013

Small interfering RNAs in mammals act as specific antiviral weapons

Many viral infections are nipped in the bud by the innate immune response. This involves specific proteins within the infected cell that recognize the virus and trigger a signalling cascade - the so-called interferon response. This activates a protective mechanism in neighbouring cells and often results in the death of the primarily infected cell.

11 Oct 2013

Research delves deeply into genomics of glioblastoma multiforme cases to better target disease

When The Cancer Genome Atlas launched its massively collaborative approach to organ-by-organ genomic analysis of cancers, the brain had both the benefit, and the challenge, of going first.

11 Oct 2013

IVF and chromosome testing: an interview with Dr. Santiago Munné

The Society for Assisted Reproductive Technology (SART) releases every year a report on pregnancy rates by maternal age. The last one shows a decline on implantation rates per embryo from 36% in young women, to 27.3% in women 35-37, 17.5% in 38-40, and less than 10% above 40 years of age.

10 Oct 2013

New MERS coronavirus emerged from bats to humans: Research

The newly emerged Middle East respiratory syndrome coronavirus has circulated in bats for a substantial time, before making the species leap to humans, according to research published in BioMed Central's open access publication Virology Journal.

10 Oct 2013

Mechanism preserving genome integrity help develop new therapies against DiGeorge syndrome

An international team of scientists-including researchers at GENYO, the Centre for Genomics and Oncological Research (Pfizer-University of Granada- Andalusian Regional Government)-has described a molecular mechanism that facilitates the defence of the human genome against "bombarding" by mobile DNA sequences.

10 Oct 2013

Delivering more personalized care for breast cancer patients

By studying the genetic makeup of breast cancer patients, doctors are taking the next steps forward in delivering more personalized care to patients. Whole genome sequencing from cancers is not a new concept, but recently researchers have delved more deeply into the evolution of breast cancers identifying that it comes in four distinct types.

9 Oct 2013

New smartphone app puts genetic information in the hands of people

Until now, understanding and using genetic information has depended on the scientists and doctors who do the testing. No longer.

9 Oct 2013

Next-generation sequencing technology effective for detecting BRCA1 and BRCA2 mutations

The recognition of a causal link between mutations in BRCA1 and BRCA2 genes and increased risk of developing breast and ovarian cancer has intensified the demand for genetic testing. Identifying mutations in these large genes by conventional methods can be time consuming and costly.

9 Oct 2013

CNIO researcher identifies new molecular mechanism that regulates genome stability, cell proliferation

Cell division is an essential process for the development of an organism. This process, however, can cause tumour growth when it stops working properly. Tumour cells accumulate alterations in their genetic material, and this makes them divide in an uncontrolled fashion, thus encouraging growth of the tumour.

9 Oct 2013

UCLA investigates high rates of schizophrenia in people with 22q11.2 deletion syndrome

UCLA has joined an international consortium to investigate the high rates of schizophrenia and other neuropsychiatric disorders in those who are affected with Chromosome 22q11.2 deletion syndrome, a disorder caused by the deletion of a small piece of chromosome number 22.

9 Oct 2013

Retinitis pigmentosa test identifies mutation found in Ashkenazi Jewish population

You might not think to look to a urine test to diagnose an eye disease. But a new Duke University study says it can link what is in a patient's urine to gene mutations that cause retinitis pigmentosa, or RP, an inherited, degenerative disease that results in severe vision impairment and often blindness. The findings appear online in the Journal of Lipid Research.

9 Oct 2013

Researchers discover how cancer development molecule maintains its genome integrity

University of Montreal researchers have discovered how telomerase, a molecule essential for cancer development, is directed to structures on our genome called telomeres in order to maintain its integrity and in turn, the integrity of the genome.

7 Oct 2013

Scientists at Oklahoma Medical Research Foundation identify six new Sj-gren-related genes

With the completion of the first genome-wide association study for Sj-gren's syndrome, an international coalition of researchers led by scientists at the Oklahoma Medical Research Foundation has identified six new disease-related genes.

7 Oct 2013

Study shows precision medicine provides better treatment options for mentally ill person

A multidisciplinary team led by a geneticist and psychiatrist from Cold Spring Harbor Laboratory's (CSHL) Stanley Institute for Cognitive Genomics today publish a paper providing a glimpse of both the tremendous power and the current limitations of what is sometimes called "precision medicine."

5 Oct 2013

Researchers discover way to use stem cells as drug delivery vehicles

A group of Brigham and Women's Hospital, and Harvard Stem Cell Institute researchers and collaborators at MIT and MGH have found a way to use stem cells as drug delivery vehicles.

5 Oct 2013

Researchers develop new method to identify genes involved in kidney diseases

Understanding how genes act in specific tissues is critical to our ability to combat many human diseases, from heart disease to kidney failure to cancer. Yet isolating individual cell types for study is impossible for most human tissues.

5 Oct 2013

Genome News and Research

Super-enhancers could play important roles in disease diagnostics and therapeutics

Two scientists from Gladstone Institutes recognized for their contributions to science, medicine

Genetic mutation that protects skin from UV radiation may cause testicular cancer in Caucasian

Researchers identify gene that orchestrates important branching of nerve fibers

Small interfering RNAs in mammals act as specific antiviral weapons

Research delves deeply into genomics of glioblastoma multiforme cases to better target disease

IVF and chromosome testing: an interview with Dr. Santiago Munné

New MERS coronavirus emerged from bats to humans: Research

Mechanism preserving genome integrity help develop new therapies against DiGeorge syndrome

Delivering more personalized care for breast cancer patients

New smartphone app puts genetic information in the hands of people

Next-generation sequencing technology effective for detecting BRCA1 and BRCA2 mutations

CNIO researcher identifies new molecular mechanism that regulates genome stability, cell proliferation

UCLA investigates high rates of schizophrenia in people with 22q11.2 deletion syndrome

Retinitis pigmentosa test identifies mutation found in Ashkenazi Jewish population

Researchers discover how cancer development molecule maintains its genome integrity

Scientists at Oklahoma Medical Research Foundation identify six new Sj-gren-related genes

Study shows precision medicine provides better treatment options for mentally ill person

Researchers discover way to use stem cells as drug delivery vehicles

Researchers develop new method to identify genes involved in kidney diseases

eBook: A guide to RNA sequencing eBook

Leveraging the power of automation to boost research

Automating research - solutions and best practices

How can microdialysis benefit drug development

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