Genomics News and Research

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Genomics is the study of the complete genetic material, including genes and their functions, of an organism.

Linking human genome sequences to EHR information could influence clinical medicine, says expert

The value of intersecting the sequencing of individuals' exomes or full genomes to find rare genetic variants -- on a large scale -- with their detailed electronic health record information has "myriad benefits, including the illumination of basic human biology, the early identification of preventable and treatable illnesses, and the identification and validation of new therapeutic targets," wrote Daniel J. Rader, MD, chair of the Department of Genetics, in the Perelman School of Medicine at the University of Pennsylvania, in Science this week, with Scott M. Damrauer, MD, an assistant professor of Surgery at Penn and the Veterans Affairs Medical Center in Philadelphia.

23 Dec 2016

Scientists discover OGDHL and NRD1 genes linked to progressive loss of neurological function

An international team of scientists has discovered that the gene, OGDHL, a key protein required for normal function of the mitochondria -- the energy-producing factory of the cell -- and its chaperone, nardilysin (NRD1) are linked to progressive loss of neurological function in humans.

22 Dec 2016

Making muscles burn more fat and less glucose could cause diabetes, say researchers

Making muscles burn more fat and less glucose can increase exercise endurance, but could simultaneously cause diabetes, says a team of scientists from Baylor College of Medicine and other institutions.

22 Dec 2016

New computational tool can predict personal cancer driver genes to optimize treatment

Columbia University Medical Center researchers have created a computational tool that can rapidly predict which genes are implicated in an individual's cancer and recommend treatments.

22 Dec 2016

New TSRI study shows how Piezo2 protein plays critical role in sensing lung expansion

The new study might help shed light on sudden infant death syndrome (SIDS) in human babies, which is thought to be associated with dysfunctional airway sensory neurons.

22 Dec 2016

Generative AAE can be radically new way to discover drugs on demand

Scientists at the Pharmaceutical Artificial Intelligence group of Insilico Medicine, Inc, today announced the publication of a seminal paper demonstrating the application of generative adversarial autoencoders (AAEs) to generating new molecular fingerprints on demand.

22 Dec 2016

Clinical Genomics introduces new blood-based test for CRC recurrence monitoring

Clinical Genomics, a private company developing evidence-based diagnostic tools for colorectal cancer, today announced the launch of Colvera, a blood-based test for colorectal cancer (CRC) recurrence monitoring. Colvera is the result of a decade of research, development and clinical validation in more than 4,000 patients.

22 Dec 2016

Researcher develops new method to accurately identify elusive molecules

Among the most important molecules in the living world are sugars or carbohydrates, which play a vital role in life processes. Sugars provide the main source of fuel for the body, protect muscles from damage and contribute to the immune response.

21 Dec 2016

OPERA study evaluates patient perceptions of pain treatment with use of transdermal formulations

Clarity, a global international scientific research company, based in Austin, Texas, announces the latest results of its IRB-approved OPERA study.

21 Dec 2016

Sanford study explores protein's role in improving survival of ovarian cancer patients

A Sanford Research lab is studying a protein's role in improving survival in ovarian cancer patients. Findings published in Oncogenesis indicate a higher level of a specific protein correlates with an increased survival rate and decrease in the spreading of cancer cells.

21 Dec 2016

Wellcome Trust Sanger Institute establishes spin-out company, Microbiotica

Cambridge Innovation Capital plc, a Cambridge-based investor in technology and healthcare companies, and IP Group plc, the developer of intellectual property-based businesses, announce the creation of Microbiotica Ltd, a newly formed spin-out company from the UK’s Wellcome Trust Sanger Institute based at the Wellcome Genome Campus in Hinxton, Cambridge.

21 Dec 2016

Clinical study tests adult stem cell therapy for infants with congenital HLHS

In a first-in-children randomized clinical study, medical researchers at the University of Maryland School of Medicine and the Interdisciplinary Stem Cell Institute at the University of Miami Miller School of Medicine have begun testing to see whether adult stem cells derived from bone marrow benefit children with the congenital heart defect hypoplastic left heart syndrome (HLHS).

21 Dec 2016

Active ingredient of pungent substances slows growth of breast cancer cells

Capsaicin, an active ingredient of pungent substances such as chilli or pepper, inhibits the growth of breast cancer cells.

20 Dec 2016

Novel genomics model allows personalized approach to radiation therapy

Cancer therapeutics is currently in the era of precision medicine - personalized medicine for individual patients based on their tumor biology.

20 Dec 2016

Researchers use CRISPR-based genetic screening to identify three promising HIV treatment targets

Investigators from Whitehead Institute, the Ragon Institute of MGH, MIT and Harvard and the Broad Institute of MIT and Harvard have used CRISPR-Cas9 gene-editing technology to identify three promising new targets for treatment of HIV infection.

20 Dec 2016

Researchers use DNA markers to differentiate harmless species from deadly bacteria

The virulent pathogen that causes the disease tularemia, or "rabbit fever," was weaponized during past world wars and is considered a potential bioweapon.

20 Dec 2016

AMP publishes joint guidelines for interpretation, reporting of sequence variants in cancer

The Association for Molecular Pathology (AMP), the premier global, non-profit molecular diagnostics professional society, today published guideline recommendations for both clinical laboratory professionals and oncologists that assess the status of next-generation sequencing (NGS)-based cancer tests and establish standardized classification, annotation, interpretation, and reporting conventions for somatic sequence variants.

17 Dec 2016

Genomics News and Research

Further Reading

Linking human genome sequences to EHR information could influence clinical medicine, says expert

Scientists discover OGDHL and NRD1 genes linked to progressive loss of neurological function

Making muscles burn more fat and less glucose could cause diabetes, say researchers

New computational tool can predict personal cancer driver genes to optimize treatment

New TSRI study shows how Piezo2 protein plays critical role in sensing lung expansion

Generative AAE can be radically new way to discover drugs on demand

Clinical Genomics introduces new blood-based test for CRC recurrence monitoring

Researcher develops new method to accurately identify elusive molecules

OPERA study evaluates patient perceptions of pain treatment with use of transdermal formulations

Sanford study explores protein's role in improving survival of ovarian cancer patients

Wellcome Trust Sanger Institute establishes spin-out company, Microbiotica

Clinical study tests adult stem cell therapy for infants with congenital HLHS

Active ingredient of pungent substances slows growth of breast cancer cells

Novel genomics model allows personalized approach to radiation therapy

Researchers use CRISPR-based genetic screening to identify three promising HIV treatment targets

Researchers use DNA markers to differentiate harmless species from deadly bacteria

AMP publishes joint guidelines for interpretation, reporting of sequence variants in cancer

NIH-funded scientists work with three ‘omes’ to understand human health

U-M awarded NIH grant to investigate molecular changes that occur during and after physical activity

Researchers use patient prostate tissue to create new model for cancer research

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