Coding Region News and Research

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Knowing causative genes of osteoporosis may open door to more effective treatments

Scientists have harnessed powerful data analysis tools and three-dimensional studies of genomic geography to implicate new risk genes for osteoporosis, the chronic bone-weakening condition that affects millions of people.

22 Mar 2019

Gene therapy restores hearing in mice with congenital genetic deafness

In collaboration with the universities of Miami, Columbia and San Francisco, scientists from the Institut Pasteur, Inserm, CNRS, Collège de France, Sorbonne University and the University of Clermont Auvergne have managed to restore hearing in an adult mouse model of DFNB9 deafness - a hearing disorder that represents one of the most frequent cases of congenital genetic deafness.

19 Feb 2019

New York State approves NYGC's Whole Genome and Transcriptome Sequencing for oncology

The New York Genome Center has received approval from the New York State Department of Health to offer whole genome and RNA transcriptome sequencing in its Clinical Laboratory Evaluation Program-certified laboratory.

29 Nov 2018

Mutations of IRF2BPL gene associated with previously undiagnosed neurological disorder

An international team of scientists, including researchers from Baylor College of Medicine, has discovered mutations of gene IRF2BPL that are associated with a previously undiagnosed neurological disorder in seven unrelated individuals.

27 Jul 2018

Harnessing Pediatric Cancer Genomic Data in the Cloud

Dr. Jinghui Zhang, an esteemed computational biologist at St. Jude Children's Research Hospital discusses her latest study and how technology such as cloud computing is changing the way that scientists carry out research.

21 Jun 2018

EPFL researchers uncover how the circadian clock regulates 3D chromatin structure

EPFL biologists and geneticists have uncovered how the circadian clock orchestrates the 24-hour cycle of gene expression by regulating the structure of chromatin, the tightly wound DNA-protein complex of the cell. The work is published in Genes & Development.

28 Mar 2018

Researchers find multiple new mutations linked to autism in children but not their parents

Most cases of autism appear to be associated with the appearance of new mutations that are not inherited from the child's parents, researchers from the University of Washington School of Medicine report.

12 Oct 2017

Novel, ultra-rare damaging genetic variants may contribute to eating disorders

By combining whole exome sequencing, machine learning, and network analysis, researchers have identified new, ultra-rare gene mutations within specific biological pathways that may contribute to eating disorders.

5 Sep 2017

'Human knockouts': Genetics in families reveals basic biology and possible therapeutics for disorders

More than 1,800 individuals carrying loss-of-function mutations in both copies of their genes, so-called "human knockouts," are described in the first major study to be published in Nature this week by an international collaboration led by the Perelman School of Medicine at the University of Pennsylvania and colleagues.

12 Apr 2017

Researchers identify new gene that can lead to sudden death among young people

Researchers from Canada, South Africa and Italy have identified a new gene that can lead to sudden death among young people and athletes.

10 Mar 2017

LMU study shows crucial role of microRNAs in protecting precursors of neurons

Programmed cell death is an integral part of embryonic development. Exploring the regulation of the process, Ludwig-Maximilians-Universitaet in Munich researchers have shown that so-called microRNAs protect the precursors of neurons from 'precocious' elimination.

13 Feb 2017

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