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MU scientists develop RNAMiner tool to make genetic science easier

Technology rapidly is advancing the study of genetics and the search for causes of major diseases. Analysis of genomic sequences that once took days or months now can be performed in a matter of hours. Yet, for most genetic scientists, the lack of access to computer servers and programs capable of quickly handling vast amounts of data can hinder genetic advancements.

8 Jul 2015

IRB Barcelona scientists provide molecular details about Seckel Syndrome

Today in Nature Communications, scientists at the Institute for Research in Biomedicine (IRB Barcelona) provide molecular details about Seckel Syndrome, a rare disease that causes microcephaly, or small brain, and growth delays.

8 Jul 2015

UPCI scientists lead a panel of experts in revising guidelines for thyroid cancer tests

University of Pittsburgh Cancer Institute scientists recently led a panel of experts in revising national guidelines for thyroid cancer testing to reflect newly available tests that better incorporate personalized medicine into diagnosing the condition.

7 Jul 2015

WPI-led study provides clues to new ways to treat difficult-to-cure fungal infections

A study by a multidisciplinary research team, co-directed by Worcester Polytechnic Institute, offers new insights into how virulent fungi adapt through genetic modifications to fight back against the effects of medication designed to block their spread, and how that battle leaves them temporarily weakened. These insights may provide clues to new ways to treat notoriously difficult-to-cure fungal infections like thrush and vaginitis.

7 Jul 2015

Study: Genes may not trigger heart disease in people suffering from migraine with aura

A new study suggests that genes may not be to blame for the increased risk of heart disease some studies have shown in people with migraine, especially those with migraine with aura. The research is published during Headache/Migraine Awareness Month in the inaugural issue of the journal Neurology Genetics, an open access, or free to the public, online-only, peer-reviewed journal from the American Academy of Neurology.

3 Jul 2015

DTC genetic testing has negative consequences in children

A woman coping with the burden of familial breast cancer can't help but wonder if her young daughter will suffer the same fate. Has she inherited the same disease-causing mutation? Is it best to be prepared for the future, or to wait? During the last decade, genetic tests have been through a sea change, both in their availability and the technologies behind them. Today there are at least 34 companies that offer direct to consumer (DTC) DNA testing, some of which return health results. And now it is possible to sequence someone's entire genetic code for the price of a laptop.

3 Jul 2015

Afamelanotide treatment improves quality of life in people with erythropoietic protoporphyria

A novel synthetic hormone that makes certain skin cells produce more melanin significantly increases pain-free sun exposure in people with erythropoietic protoporphyria, a rare, genetic disorder resulting in excruciating pain within minutes of sun exposure.

3 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

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

Elsevier announces acquisition of London-based InferMed

Elsevier, a world-leading provider of scientific, technical and medical information products and services, announced today the acquisition of InferMed, a London-based clinical decision support (CDS) technology company.

1 Jul 2015

Nuclea and Aelan partner to develop, commercialize novel biomarker tests using STEM cells as models

Nuclea Biotechnologies Inc. announced today that it is partnering with Aelan Cell Technologies Inc. (San Francisco, California) for the development, validation and commercialization of novel biomarker tests and companion diagnostics using human STEM cells as models.

1 Jul 2015

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

The American Society of Human Genetics (ASHG) has named Robert L. Nussbaum, M.D., chief medical officer of invitae and clinical professor of medicine (volunteer) at the University of California, San Francisco (UCSF); Roderick R. McInnes, CM, M.D., Ph.D., director of the Lady Davis Institute at the Jewish General Hospital and Alva chair in human genetics, Canada Research chair in neurogenetics, and professor of human genetics and biochemistry at McGill University; and Huntington F. Willard, Ph.D., president and director of the Marine Biological Laboratory and professor of human genetics at the University of Chicago; as the 2015 recipients of its annual Award for Excellence in Human Genetics Education.

1 Jul 2015

Multiple courses of antibiotics may have significant impact on child development

A new animal study by NYU Langone Medical Center researchers adds to growing evidence that multiple courses of commonly used antibiotics may have a significant impact on children's development.

1 Jul 2015

Study supports need for diagnostic analysis of germline and tumor biomarker information

A core tenet of precision medicine is that predictive biomarkers can enhance therapeutic decision-making. In a new pilot study, scientists at Molecular Health analyzed a randomly selected set of 250 patients with solid tumors and detected predictive biomarkers in more than 85% of tumors.

30 Jun 2015

7th Annual Personalized & Precision Medicine Conference to be held in Baltimore from Oct. 5 to 6, 2015

Arrowhead's 7th Annual Personalized & Precision Medicine Conference is coming to Baltimore, MD on October 5-6, 2015 as an official satellite event to the American Society for Human Genetics Annual Meeting.

30 Jun 2015

Researchers identify better way to screen for lung cancer

The Valley Hospital in Ridgewood, NJ, is pleased to announce that two of its oncologists and a research scientist are helping pave the way to an easier, more accurate, less invasive way to screen for the most common form of lung cancer. Lung cancer is the most common cancer in men worldwide and the number one cancer killer in the United States.

30 Jun 2015

Scientists develop high-throughput strategy to build de novo genomes

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled researchers to detect complex forms of genomic variation, critically important for their association with human disease, but previously difficult to detect.

30 Jun 2015

Veracyte named to Bay Area News Group's Top Workplaces list for second consecutive year

Veracyte, Inc., a molecular diagnostics company pioneering the field of molecular cytology, today announced that it has been named to the Bay Area News Group's prestigious Top Workplaces list for the second year in a row. The news group selects Top Workplace winners based solely on an annual survey of Bay Area-company employees.

29 Jun 2015

Scientists examine rates of secondary mutations in biomarker genes

Many tests for predictive biomarkers in tumors focus on selected known mutations or regions (e.g. hotspot panels). In a new study, scientists at Molecular Health examined the rates of secondary mutations in known biomarker genes and their potential impact on the diagnostic reliability of specific single-nucleotide variant (SNV) biomarker testing.

29 Jun 2015

Six Catalonia research centres collaborate to set up The Barcelona Institute of Science and Technology

Six of the top research centres in Catalonia have taken a step forward in their collaboration by setting up The Barcelona Institute of Science and Technology. The centres involved are: the Centre for Genomic Regulation; the Institute of Chemical Research of Catalonia; the Catalan Institute for Nanoscience and Nanotechnology; the Institute of Photonic Sciences; the High Energy Physics Institute; and the Institute for Research in Biomedicine.

27 Jun 2015

Genomic News and Research

MU scientists develop RNAMiner tool to make genetic science easier

IRB Barcelona scientists provide molecular details about Seckel Syndrome

UPCI scientists lead a panel of experts in revising guidelines for thyroid cancer tests

WPI-led study provides clues to new ways to treat difficult-to-cure fungal infections

Study: Genes may not trigger heart disease in people suffering from migraine with aura

DTC genetic testing has negative consequences in children

Afamelanotide treatment improves quality of life in people with erythropoietic protoporphyria

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

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

Elsevier announces acquisition of London-based InferMed

Nuclea and Aelan partner to develop, commercialize novel biomarker tests using STEM cells as models

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

Multiple courses of antibiotics may have significant impact on child development

Study supports need for diagnostic analysis of germline and tumor biomarker information

7th Annual Personalized & Precision Medicine Conference to be held in Baltimore from Oct. 5 to 6, 2015

Researchers identify better way to screen for lung cancer

Scientists develop high-throughput strategy to build de novo genomes

Veracyte named to Bay Area News Group's Top Workplaces list for second consecutive year

Scientists examine rates of secondary mutations in biomarker genes

Six Catalonia research centres collaborate to set up The Barcelona Institute of Science and Technology

The art of CRISPR: The power and promise of gene editing 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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