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.

TSRI scientists solve long-standing mystery about sense of touch

A study led by scientists at The Scripps Research Institute (TSRI) has helped solve a long-standing mystery about the sense of touch.

7 Apr 2014

Researchers discover hotspot L205R mutation is closely associated with adrenocortical tumors

Chinese researchers from Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, BGI, and other institutions have discovered that the activating hotspot L205R mutation in PRKACA gene was closely associated with adrenocortical tumors (ACTs), and the relationship of recurrently mutated DOT1L and CLASP2 with ACTs' other subtypes.

7 Apr 2014

Harvard Medical School researcher receives 2014 Richard King Trainee Award

Huma Q. Rana, MD of Harvard Medical School's Dana Farber Cancer Institute is the recipient of the 2014 Richard King Trainee Award. This award was instituted five years ago by the ACMG Foundation for Genetic and Genomic Medicine to encourage ABMG or genetic counseling trainees in their careers and to foster the publication of the highest quality research in ACMG's peer-reviewed journal, Genetics in Medicine (GIM).

7 Apr 2014

Study explores relationship between genetics and lifestyle in development of AD

A global study involving more than one million people worldwide will explore the relationship between genetics and lifestyle in the development of Alzheimer's disease.

4 Apr 2014

Metabolon announces launch of fourth-generation metabolomics platform

Metabolon, Inc., a leader in metabolomics-driven biomarker discovery, announced today the launch of DiscoveryHD4, the company's fourth-generation metabolomics platform.

4 Apr 2014

Appistry unveils latest version of Broad Institute’s Genome Analysis Toolkit

Appistry, Inc., a leading provider of high-performance computing and analytics solutions for next-generation medicine, today released the latest commercial version of the Broad Institute's Genome Analysis Toolkit (GATK).

3 Apr 2014

Researcher honored with Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship Award at ACMG

Xiangling Wang, MD, PhD of Mayo Clinic in Rochester, MN was honored as the 2014-2015 recipient of the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award at the ACMG 2014 Annual Clinical Genetics Meeting in Nashville, TN.

2 Apr 2014

UM researchers awarded FDA contract to expand high-throughput sequencing database

Researchers at the Institute for Genome Sciences at the University of Maryland School of Medicine have been awarded a research program contract from the U.S. Food and Drug Administration (FDA) to sequence, assemble, and annotate a population of bacterial pathogens using two high-throughput sequencing (HTS) technologies in support of the expansion of a vetted public reference database.

2 Apr 2014

Beckman Coulter Life Sciences’ Avanti centrifuges combine high performance and application versatility

Avanti JXN-26 centrifuges from Beckman Coulter offer lab an intuitive interface and advanced data management features.

From Beckman Coulter Life Sciences - Centrifugation 1 Apr 2014

Patients with autoimmune disease have 3.8-fold increased risk of developing epilepsy

Patients with an autoimmune disease have a 3.8-fold increased risk of developing epilepsy, according to a new population-level study from Boston Children's Hospital based on health insurance claim data.

1 Apr 2014

New high-risk cancer causing mutation identified for melanoma development

Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma.

31 Mar 2014

Whole-genome sequencing in newborns could help detect, manage wide array of disorders

Should whole-genome sequencing be used in the public-health programs that screen newborns for rare conditions?

29 Mar 2014

Elsevier launches open access journal addressing role of cognitive functioning in schizophrenia

Elsevier, a world-leading provider of scientific, technical and medical information products and services, today announced the launch of Schizophrenia Research: Cognition, a new open access journal dedicated to publishing original research, concise research reports, brief reports, letters to the editor, and review papers addressing the role of cognitive functioning in schizophrenia.

28 Mar 2014

IRB researchers identify dual role of p38 protein in colon cancer

A team headed by Angel R. Nebreda at the Institute for Research in Biomedicine identifies a dual role of the p38 protein in colon cancer. The study demonstrates that, on the one hand, p38 is important for the optimal maintenance of the epithelial barrier that protects the intestine against toxic agents, thus contributing to decreased tumour development.

28 Mar 2014

Tgen professor to receive 2014 Hope Funds Award for developing numerous cancer treatments

Dr. Daniel D. Von Hoff, who has been instrumental in developing numerous new cancer treatments, is among this year's recipients of the Award of Excellence from the Hope Funds for Cancer Research.

28 Mar 2014

Schizophrenia Research: Cognition, an online open access journal from Elsevier

27 Mar 2014

Personalis and Inova team up to advance genomic medicine

Inova Translational Medicine Institute and Personalis, Inc. today announced a partnership to advance genomic medicine for Inova's patient population.

27 Mar 2014

Research pinpoints location of key genetic regulators in blood cells

Research published online today in Blood, the Journal of the American Society of Hematology, presents an unprecedented look at five unique blood cells in the human body, pinpointing the location of key genetic regulators in these cells and providing a new tool that may help scientists to identify how blood cells form and shed light on the etiology of blood diseases.

27 Mar 2014

Study: Genetics could explain why environmental exposures can trigger onset of rheumatoid arthritis

A new international study has revealed how genetics could explain why different environmental exposures can trigger the onset of different forms of rheumatoid arthritis.

From The University of Manchester 27 Mar 2014

Researchers to discuss implications of genomic sequencing at ACMG meeting

Researchers from the Mayo Clinic Center for Individualized Medicine will present results of three different studies evaluating implications and feasibility of genome sequencing at the ACMG Annual Clinical Genetics Meeting this week in Nashville, Tenn.

27 Mar 2014

Genomics News and Research

Further Reading

TSRI scientists solve long-standing mystery about sense of touch

Researchers discover hotspot L205R mutation is closely associated with adrenocortical tumors

Harvard Medical School researcher receives 2014 Richard King Trainee Award

Study explores relationship between genetics and lifestyle in development of AD

Metabolon announces launch of fourth-generation metabolomics platform

Appistry unveils latest version of Broad Institute’s Genome Analysis Toolkit

Researcher honored with Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship Award at ACMG

UM researchers awarded FDA contract to expand high-throughput sequencing database

Beckman Coulter Life Sciences’ Avanti centrifuges combine high performance and application versatility

Patients with autoimmune disease have 3.8-fold increased risk of developing epilepsy

New high-risk cancer causing mutation identified for melanoma development

Whole-genome sequencing in newborns could help detect, manage wide array of disorders

Elsevier launches open access journal addressing role of cognitive functioning in schizophrenia

IRB researchers identify dual role of p38 protein in colon cancer

Tgen professor to receive 2014 Hope Funds Award for developing numerous cancer treatments

Schizophrenia Research: Cognition, an online open access journal from Elsevier

Personalis and Inova team up to advance genomic medicine

Research pinpoints location of key genetic regulators in blood cells

Study: Genetics could explain why environmental exposures can trigger onset of rheumatoid arthritis

Researchers to discuss implications of genomic sequencing at ACMG meeting

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