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Genomics is the study of the complete genetic material, including genes and their functions, of an organism.
Finding treatments for rare diseases: an interview with Dr Richard Thompson

Finding treatments for rare diseases: an interview with Dr Richard Thompson

It is estimated that around 400 rare diseases have licenced treatments, and a large proportion of these are a consequence of orphan drug legislation, which has helped to incentivise the production of drugs for small patient populations. [More]
Combination of two diagnostic tests can decrease chance of missing tumors by sevenfold

Combination of two diagnostic tests can decrease chance of missing tumors by sevenfold

Cytopathology researchers at Houston Methodist Hospital recently found that combining two diagnostic tests, Pap and high-risk human papillomavirus (hrHPV), dramatically decreased the chance of missing tumors and high-grade lesions by sevenfold. [More]
Positive effects of Mediterranean diet on health of elderly population

Positive effects of Mediterranean diet on health of elderly population

Sticking to a Mediterranean style diet might slow down ageing finds the EU funded project NU-AGE. At a recent conference in Brussels, researchers presented that a NU-AGE Mediterranean style diet, tested in the project, significantly decreased the levels of the protein known as C-reactive protein, one of the main inflammatory marker linked with the ageing process [More]
Snapshots of NMDA receptor activation may help in novel drug design

Snapshots of NMDA receptor activation may help in novel drug design

Structural biologists at Cold Spring Harbor Laboratory and Janelia Research Campus/HHMI, have obtained snapshots of the activation of an important type of brain-cell receptor. Dysfunction of the receptor has been implicated in a range of neurological illnesses, including Alzheimer's disease, Parkinson's disease, depression, seizure, schizophrenia, autism, and injuries related to stroke. [More]
Key method to test compounds for anti-cancer activity in cells flawed, study reveals

Key method to test compounds for anti-cancer activity in cells flawed, study reveals

The primary method used to test compounds for anti-cancer activity in cells is flawed, Vanderbilt University researchers report May 2 in Nature Methods. The findings cast doubt on methods used by the entire scientific enterprise and pharmaceutical industry to discover new cancer drugs. [More]
Researchers one step closer to understanding disease origin

Researchers one step closer to understanding disease origin

Researchers are one step closer to understanding the genetic and biological basis of diseases like cancer, diabetes, Alzheimer's and rheumatoid arthritis - and identifying new drug targets and therapies - thanks to work by three computational biology research teams from the University of Arizona Health Sciences, University of Pennsylvania and Vanderbilt University. [More]
New gene testing method can identify mutations, prioritize variants in breast and ovarian cancer genes

New gene testing method can identify mutations, prioritize variants in breast and ovarian cancer genes

A research team led by an award-winning genomicist at Western University has developed a new method for identifying mutations and prioritizing variants in breast and ovarian cancer genes, which will not only reduce the number of possible variants for doctors to investigate, but also increase the number of patients that are properly diagnosed. [More]
TGen scientists trace likely origins, dispersal of fungus that causes Valley Fever

TGen scientists trace likely origins, dispersal of fungus that causes Valley Fever

Using the latest in genomic analysis technologies, scientists at the Translational Genomics Research Institute have tracked the likely origins and dispersal of the fungus that causes Valley Fever, according to a study published today in the journal mBio, the premiere journal for reporting high impact microbiological research. [More]
Takara Bio USA, Integrated DNA Technologies collaborate to enhance transcriptome research

Takara Bio USA, Integrated DNA Technologies collaborate to enhance transcriptome research

Takara Bio USA, Inc. (TBUSA, formerly Clontech Laboratories, Inc.), a wholly owned subsidiary of Takara Bio Inc., and Integrated DNA Technologies (IDT) today announced a new collaboration to support targeted RNA sequencing. [More]
Researchers discover gene that plays vital role in inherited eye disorder

Researchers discover gene that plays vital role in inherited eye disorder

Researchers from the University of Liverpool have identified a specific gene that plays a key role in an inherited eye disorder. [More]
Fructose common in western diet can damage brain genes

Fructose common in western diet can damage brain genes

A range of diseases -- from diabetes to cardiovascular disease, and from Alzheimer's disease to attention deficit hyperactivity disorder -- are linked to changes to genes in the brain. A new study by UCLA life scientists has found that hundreds of those genes can be damaged by fructose, a sugar that's common in the Western diet, in a way that could lead to those diseases. [More]
Researchers develop real-time single molecule electronic DNA sequencing platform

Researchers develop real-time single molecule electronic DNA sequencing platform

Researchers from Columbia University, with colleagues at Genia Technologies, Harvard University and the National Institute of Standards and Technology report achieving real-time single molecule electronic DNA sequencing at single-base resolution using a protein nanopore array. [More]
NASA's research program uses omics to look more closely at individual health

NASA's research program uses omics to look more closely at individual health

NASA's Human Research Program is releasing the first half of a video series entitled Omics: Exploring Space Through You to highlight its Twins Study, in conjunction with its National DNA Day Reddit Ask Me Anything event at 10 a.m. CDT/11 a.m. EDT, Monday, April 25, 2016. The series explores space through you by using omics to look more closely at individual health. [More]
Under-expressed miR-9 gene may contribute to schizophrenia risk

Under-expressed miR-9 gene may contribute to schizophrenia risk

By turning skin cells into brain neurons, researchers at the Icahn School of Medicine at Mount Sinai have identified that certain tiny molecules aiding in gene expression, known as microRNAs (miRNAs), are under-expressed in the brains of the 14 schizophrenia patients they studied. Their findings, published online today in the journal Cell Reports, show that one of these molecules, a miRNA known as miR-9, is a risk factor that controls the activity of hundreds of genes. [More]
Wellderly study finds link between cognitive decline genes and healthy aging

Wellderly study finds link between cognitive decline genes and healthy aging

An eight-year-long accrual and analysis of the whole genome sequences of healthy elderly people, or "Wellderly," has revealed a higher-than-normal presence of genetic variants offering protection from cognitive decline, researchers from the Scripps Translational Science Institute (STSI) reported today in the journal Cell. [More]
Bacteria-derived gut metabolites can affect brain’s myelin content and induce depression-like symptoms

Bacteria-derived gut metabolites can affect brain’s myelin content and induce depression-like symptoms

Specific combinations of gut bacteria produce substances that affect myelin content and cause social avoidance behaviors in mice, according to a study conducted at the Icahn School of Medicine at Mount Sinai and published today in the medical journal eLife. This research suggests that targeting intestinal bacteria, or their metabolites, could be one way to treat debilitating psychiatric disorders and demyelinating diseases, like multiple sclerosis. [More]
Scientists uncover unique cellular defects linked with SLOS using novel stem-cell model

Scientists uncover unique cellular defects linked with SLOS using novel stem-cell model

Studies performed by a Sanford Research scientist using an innovative stem-cell model for a fatal developmental disorder is the focus of a recent study published in Nature Medicine. Kevin Francis, Ph.D. uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome (SLOS) by modeling this disease using induced pluripotent stem cells. [More]
Using proteomics to understand Alzheimer’s: an interview with Dr Renã Robinson

Using proteomics to understand Alzheimer’s: an interview with Dr Renã Robinson

In our bioanalytical mass spectrometry lab we use proteomics techniques to try to understand more about Alzheimer's disease. The primary thrust of our research is that we're interested in understanding the changes that take place outside of the brain and how those correlate with what's taking place inside the brain [More]
New computer algorithm can better characterize functional context of genomic variations in cancer

New computer algorithm can better characterize functional context of genomic variations in cancer

Cancer is rarely the result of a single mutation in a single gene. Rather, tumors arise from the complex interplay between any number of mutually exclusive abnormal changes in the genome, the combinations of which can be unique to each individual patient. [More]
UAB lab to offer new tests for genetic diseases using next-generation sequencing

UAB lab to offer new tests for genetic diseases using next-generation sequencing

The Medical Genomics Laboratory at the University of Alabama at Birmingham is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies. Beginning April 18, the UAB lab will offer new tests using the technique called customized deep-coverage, next-generation sequencing or NGS. [More]
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