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Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

Researchers have used CRISPR to treat an adult mouse model of Duchenne muscular dystrophy. This marks the first time that CRISPR has successfully treated a genetic disease inside a fully developed living mammal with a strategy that has the potential to be translated to human therapy.

4 Jan 2016

Researchers find greater genetic diversity among cancer cells than anticipated

The most rigorous genetic sequencing ever carried out on a single tumor reveals far greater genetic diversity among cancer cells than anticipated. Researchers from the University of Chicago and the Beijing Institute of Genomics estimate that the tumor, about 3.5 centimeters in diameter, contained more than 100 million distinct mutations within the coding regions of its genes—thousands of times more than expected.

10 Nov 2015

Researchers use genomic techniques to show why different strains of Salmonella infect particular animal species

It's called bird flu for a reason. Particular characteristics about the influenza virus known as H5N1 allow it to primarily affect avifauna, though in some worrying cases the disease has been passed to humans.

3 Nov 2015

ToMMo constructs Japanese population reference panel from genome information of 1,070 individuals

A research group at Tohoku Medical Megabank Organization (ToMMo) has successfully constructed a Japanese population reference panel (1KJPN), from the genome information of 1,070 individuals who had participated in the cohort studies of the Tohoku Medical Megabank Project.

19 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

Jumping genes: a marker for early cancer diagnosis? An interview with Dr Kazazian

In the genome of every human being, there are about 80-100 active LINE-1s that are capable of mobilizing by a copy and paste mechanism to a new location in the genome.

6 Oct 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

Desmoplasmic melanoma may possess unprecedented burden of gene mutations, say UCSF scientists

A rare, deadly form of skin cancer known as desmoplasmic melanoma (DM) may possess the highest burden of gene mutations of any cancer, suggesting that immunotherapy may be a promising approach for treatment, according to an international team led by UC San Francisco scientists. One of these mutations, never before observed in any cancer, may shield nascent DM tumors from destruction by the immune system and allow further mutations to develop.

7 Sep 2015

New NIH grants support research that combines DNA sequence information and electronic medical records

A dozen awards from the National Institutes of Health will support research that incorporates DNA sequence information into electronic medical records. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences.

2 Sep 2015

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

About 3% of colorectal cancers are due to Lynch syndrome, an inherited cancer susceptibility syndrome that predisposes individuals to various cancers. Close blood relatives of patients with Lynch syndrome have a 50% chance of inheritance. The role that PMS2 genetic mutations play in Lynch syndrome has been underestimated in part due to technological limitations.

27 Aug 2015

New set of genes can indicate improved survival after surgery for pancreatic cancer patients

A study by the Translational Genomics Research Institute and other major research institutes, found a new set of genes that can indicate improved survival after surgery for patients with pancreatic cancer. The study also showed that detection of circulating tumor DNA in the blood could provide an early indication of tumor recurrence.

21 Aug 2015

Researchers uncover genetic circuit involved in obesity

Like many other conditions, obesity is caused by an interplay between genetic and environmental factors. While efforts to combat the obesity epidemic will need to include changes in diet and exercise, insights into the genes involved may also help with prevention and treatment.

20 Aug 2015

Research: Critical aspects of human genome's regulatory program encoded by genomic sequence elements

Since the classical studies of Jacob and Monod in the early 1960s, it has been evident that genome sequences contain not only blueprints for genes and the proteins that they encode, but also the instructions for a coordinated regulatory program that governs when, where and to what extent these genes and proteins are expressed.

4 Aug 2015

GTEx findings reveal how genomic variants can affect gene activity and disease susceptibility

Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease.

8 May 2015

Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced the availability of Neurome, a whole exome sequencing service designed to aid the diagnosis of rare neurological disorders in pediatric populations.

From Quest Diagnostics 10 Mar 2015

Researchers develop quality assurance tool for genome editing

A research team at Boston Children's Hospital's Program in Cellular and Molecular Medicine has developed a quality assurance tool for scientists using genome-editing technologies like the increasingly popular CRISPR. The assay, called high throughput genome translocation sequencing (HTGTS), rapidly gauges—for any given gene—these technologies' accuracy and their risk for causing potentially dangerous genomic collateral damage.

9 Feb 2015

Genomics of papillary thyroid carcinoma (PTC): an interview with Professor Thomas J. Giordano

There are two types of thyroid cells and therefore there are two broad types of thyroid cancer. Medullary carcinoma is derived from parafollicular or C cells, whereas follicular cells give rise to several types of thyroid cancers.

4 Feb 2015

Study: Mutated ATRX gene may serve as much-needed biomarker for rare neuroendocrine tumors

A somatic mutation in the ATRX gene has recently been shown as a potential molecular marker for aggressive brain tumors, such as gliomas, neuroblastomas and pancreatic neuroendocrine tumors. Now, for the first time, researchers at Penn's Abramson Cancer Center have found that the same mutated gene may serve as a much-needed biomarker for the pheochromocytomas and paragangliomas (PCC/PGL) that become malignant.

21 Jan 2015

New computational technique reveals genetic roots of autism, cancers

In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease?

22 Dec 2014