DNA Sequencing News and Research

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Genetic mutation linked to ALS, FTD prevents proteins from entering and exiting the cell's nucleus

Three teams of scientists supported by the National Institutes of Health showed that a genetic mutation linked to some forms of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) may destroy neurons by disrupting the movement of materials in and out of the cell's nucleus, or command center where most of its DNA is stored.

19 Oct 2015

New UCL study highlights genes associated with schizophrenia and obesity

Genes involved in schizophrenia and obesity have been highlighted in a new UCL study, which could lead to a better understanding of the DNA variants which affect risk of these conditions and aid the development of improved strategies for prevention and treatment.

18 Oct 2015

International consortium provides standard protocol for using Oxford Nanopore's DNA-sequencing device

The MinION, a handheld DNA-sequencing device developed by Oxford Nanopore, has been tested and evaluated by an independent, international consortium coordinated by EMBL's European Bioinformatics Institute (EMBL-EBI).

16 Oct 2015

Different Crohn's disease treatments affect children's gut microbes in distinct ways

Different treatments for Crohn's disease in children affects their gut mi-crobes in distinct ways, which has implications for future development of microbial-targeted therapies for these patients, according to a study led by researchers from the Perelman School of Medicine at the University of Pennsylvania.

15 Oct 2015

How important is a mother’s diet before pregnancy? An interview with Dr Matt Silver

In humans, much is already known about the impact of maternal undernutrition during pregnancy, and its impact on growth, development and disease throughout the life course. However, until recently little was known about the effects of the nutritional environment around the time of conception.

14 Oct 2015

Penn study forms basis for new treatment approaches for Sezary syndrome

Sezary syndrome (SS), an aggressive leukemia of mature T cells, is more complicated at a molecular level than ever suspected, according to investigators from the Perelman School of Medicine at the University of Pennsylvania.

8 Oct 2015

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

Claritas Genomics, Inc., announced the launch of its Claritas Clinical Exome, at the Annual Meeting of the American Society of Human Genetics running 10/6 – 10/10 in Baltimore, MD. This novel diagnostic test is the first to exploit the strengths of multiple DNA sequencing platforms simultaneously to deliver confirmed results for a patient’s clinical whole exome within 4 weeks, compared to the industry standard of 12 weeks or more. Patients with rare disease typically seek a diagnosis for 8-12 years, receiving 3-5 separate tests at a high cost.

7 Oct 2015

New studies suggest ways to improve cancer care by inhibiting oncogenes, boosting tumor-suppressor activity

Two new studies by cancer scientists at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC - James) suggest new approaches for treating cancer by inhibiting overactive cancer-promoting genes and by enhancing the activity of sluggish tumor-suppressor genes.

7 Oct 2015

Epilepsy Society becomes third customer of Complete Genomics' newly introduced Revolocity system

Complete Genomics, Inc., a leader in whole human genome sequencing, announced today that leading UK charity Epilepsy Society has become the third customer of the company's newly introduced Revolocity system, a supersequencer for large-scale, high-quality whole genome and whole exome sequencing.

6 Oct 2015

International team of scientists create world's largest catalog of genomic variations among humans

An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with powerful clues to help them establish why some people are susceptible to various diseases. While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders.

1 Oct 2015

New reference catalogue may help guide future studies of genetics, evolution and disease

Missing a gene may be less problematic than you'd think. This is one of the conclusions that emerge from the most extensive catalogue of structural variations - changes in large sections of a person's DNA sequence - to date.

1 Oct 2015

New report implicates five genetic regions that play major roles in CF disease severity

If you have two faulty copies of the CFTR gene, you will have cystic fibrosis. But the severity of your disease will depend on environmental factors and many other genes. Locating these genes and altering their function could lead to new therapies.

29 Sep 2015

Real-time blood test based on DNA sequencing can rapidly diagnose Ebola and other acute infections

Using technical advances not yet developed when the 2014 Ebola outbreak began, UC San Francisco-led scientists completed a proof-of-principle study on a real-time blood test based on DNA sequencing that can be used to rapidly diagnose Ebola and other acute infections. The researchers said that the test can be used even where lab space and medical infrastructure are scarce.

From Oxford Nanopore Technologies 29 Sep 2015

Scientists compile complete genetic information of people affected by PAH

The genetic architecture of a debilitating and potentially fatal vascular disease has for the first time been detailed in its entirety, providing clinicians with the comprehensive data needed to improve diagnosis and deliver more personalised patient care.

25 Sep 2015

TUM, Stanford University scientists create new cancer therapy concept

Pancreatic cancer is one of the most aggressive forms of cancer and one of the most difficult to treat. Its high resistance to treatment is a major problem, particularly in the advanced stages.

24 Sep 2015

Researchers receive NIH grants to find genomic regions containing variants that affect disease risk

Six new grants from the National Institutes of Health will support researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits.

23 Sep 2015

Protein-based modular system could help detect viral infection or kill cancer cells

MIT biological engineers have developed a modular system of proteins that can detect a particular DNA sequence in a cell and then trigger a specific response, such as cell death.

22 Sep 2015

Boehringer Ingelheim, BioMed X apply crowdsourcing approach to establish research team for identifying COPD treatment

Boehringer Ingelheim and BioMed X announced today that they have successfully applied a crowdsourcing approach to establish a research team of outstanding scientists from around the world with bright ideas, who will endeavor to identify new approaches for the treatment of patients with chronic obstructive pulmonary disease (COPD).

21 Sep 2015

Urinary tract infections could be treated more efficiently using DNA sequencing device

Urinary tract infections (UTIs) could be treated more quickly and efficiently using a DNA sequencing device the size of a USB stick - according to research from the University of East Anglia.

From Oxford Nanopore Technologies 21 Sep 2015

Thomas Jefferson University provides routine genomic fingerprinting to cancer patients

Cancer medicine is moving towards understanding what drives each particular patient's cancer. But not every patient has had access to this level of individualized care.

18 Sep 2015