Coding Region News and Research

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New research points to lncRNA's key role in helping control cellular processes

Scientific research over the past decade has concentrated almost exclusively on the 2 percent of the genome's protein coding regions, virtually ignoring the other 98 percent, a vast universe of non-coding genetic material previously dismissed as nothing more than 'junk.'

27 Dec 2016

Researchers aim to stop breast cancer metastasis from happening altogether

A new Tel Aviv University study finds that combining genetic therapy with chemotherapy delivered to a primary tumor site is extremely effective in preventing breast cancer metastasis.

5 Oct 2016

Research shows degenerative diseases affecting the retina may be treatable with gene therapy

Researchers have demonstrated the ability to deliver a fully functional copy of the CLN3 gene to stem cells of patients with juvenile NCL, an inherited neurodegenerative disease in which a mutation in the CLN3 gene causes early-onset severe central vision loss.

26 Sep 2016

Researchers identify genetic switch that may be potential target for Alzheimer's disease

A team at the MRC Clinical Sciences Centre, based at Imperial College London, has found an important part of the machinery that switches on a gene known to protect against Alzheimer's Disease.

20 Sep 2016

Rare genetic variations linked to severe porphyria

An international research team has linked rare variations in a cell membrane protein to the wide variation in symptom severity that is a hallmark of porphyria, a rare disorder that often affects the skin, liver and nervous system.

10 Aug 2016

Alcohol-craving rats offer insights into genetic underpinnings of alcoholism

Alcohol-craving rats have provided researchers with a detailed look into the complicated genetic underpinnings of alcoholism.

5 Aug 2016

Epigenetic modification of Igfbp2 gene may increase risk of obesity and fatty liver

Scientists of the German Center for Diabetes Research led by the German Institute of Human Nutrition have shown in a mouse model that the epigenetic modification of the Igfbp2 gene observed in the young animal precedes a fatty liver in the adult animal later in life.

24 May 2016

New MyGene2 web tool may help find genes influencing Mendelian disorders

A new web tool, MyGene2, will enable patients and their families to join clinicians and scientists in the search for genes underlying rare disorders. The sharing of health information also will improve knowledge about how gene variants influence symptoms and other clinical features of Mendelian disorders.

3 Mar 2016

Tick genome study sheds light on occurrences of Lyme disease

After a decade-long research effort the genome of the deer tick has been sequenced by an international team of scientists, including researchers from the SIB Swiss Institute of Bioinformatics.

12 Feb 2016

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