Genomics

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Researchers identify key regulator gene for formation of cardiac valves

Researchers from the University of Basel in Switzerland have identified a key regulator gene for the formation of cardiac valves - a process crucial to normal embryonic heart development. These results are published in the journal Cell Reports today.

23 May 2017

Study shows how different genetic mutations cause acute myeloid leukemia

A study led by the University of Birmingham has made a breakthrough in the understanding of how different genetic mutations cause acute myeloid leukemia.

23 May 2017

Scientists identify new risk genes providing insights about cause of CAD

Coronary artery disease (CAD) is a leading cause of death worldwide. Despite dozens of regions in the genome associated with CAD, most of the genetic components of heart diseases are not fully understood, suggesting that more genes are out there to be found.

23 May 2017

Pitt scientists discover genes responsible for severe congenital heart disease

The first known identification of two genes responsible for hypoplastic left heart syndrome (HLHS), a severe congenital heart defect, has been reported by researchers at the University of Pittsburgh School of Medicine.

22 May 2017

Study uncovers new genes linked to intelligence

Intelligence is one of the most investigated traits in humans and higher intelligence is associated with important economic and health-related life outcomes.

22 May 2017

Researchers identify genetic mutations that predict better prognosis for neuroblastoma patients

The annual mortality rate in childhood cancer of the sympathetic nervous system, or neuroblastoma, is 10 per million between the ages of 0 and 4. The collaborative work between Basque and Valencian researchers has served to identify some genetic mutations that will help to improve the treatment of this disease.

19 May 2017

Study provides new understanding of silent gene changes and genetic complexity of cystic fibrosis

Cystic fibrosis is a common life-shortening inherited disease that affects over 70,000 people worldwide, the majority of whom are children and young adults.

18 May 2017

Protein that helps regulate childhood growth could become possible target for anticancer therapies

The path to understanding what goes wrong in cancer could benefit from a detour through studies of rare childhood diseases.

18 May 2017

Scientists reveal new control mechanism for gene that causes Opitz syndrome

Opitz G/BBB (Opitz) syndrome is a hereditary disorder that affects people in different ways, causing malformations in medial (midline) organs and structures, intellectual disability and developmental disorders.

18 May 2017

Scientists identify gene linked to incurable bowel disorders

A key gene that helps to explain an underlying cause of incurable bowel disorders such as Crohn's disease has been identified by scientists.

17 May 2017

Experimental gene therapy proven safe for preserving vision of people with AMD

In a small and preliminary clinical trial, Johns Hopkins researchers and their collaborators have shown that an experimental gene therapy that uses viruses to introduce a therapeutic gene into the eye is safe and that it may be effective in preserving the vision of people with wet age-related macular degeneration.

17 May 2017

Researchers discover likely cause for visual impairment in Finnish variant of NCL

Researchers from the University of Eastern Finland have discovered a likely cause for visual impairment and eventual loss of vision in the Finnish variant of Neuronal Ceroid Lipofuscinosis.

17 May 2017

Spanish scientists develop promising gene therapy method to treat Wilson's disease

Scientists at the Center for Applied Medical Research at the University of Navarra have designed a promising gene therapy method to treat Wilson's disease, a rare pathology caused by the lack of or malfunction of a gene.

16 May 2017

Researchers identify many dangerous strains of TB pathogens

Researchers from the Vavilov Institute of General Genetics of the Russian Academy of Sciences (VIGG) and the Moscow Institute of Physics and Technology have established a catalog of mutations in 319 virulence genes of mycobacteria that cause tuberculosis.

16 May 2017

JAX researcher awarded federal grant for genomic studies of healthy aging and Alzheimer's disease

A grant totaling $2,668,127 over five years will fund studies of the complex processes involved in both healthy aging and Alzheimer's disease, in the laboratory of Jackson Laboratory (JAX) Assistant Professor Catherine Kaczorowski, Ph.D.

16 May 2017

New gene variant linked to Lou Gehrig's disease

For the first time, a variant in UBQLN4 gene has been associated with Lou Gehrig's disease or amyotrophic lateral sclerosis (ALS) - a progressive disease resulting in the loss of nerve cells that control muscle movement, which eventually leads to paralysis and death.

15 May 2017

Analyzing single-cell RNA data in pre-malignant tumors

RNA sequencing is basically the isolation of RNA from cells and the use of reverse transcriptase to turn the RNA into DNA. You can then use your standard DNA sequencing technologies to quantify the cDNA that you obtained from the reverse transcription reaction.

12 May 2017

Mayo Clinic research advances understanding of DNA repair mechanisms

We humans like to think our DNA is well-protected in the nucleus of each cell. But it's a hard life for the hard-working genetic code.

12 May 2017

Study identifies first genetic locus for anorexia nervosa

A landmark study led by UNC School of Medicine researchers has identified the first genetic locus for anorexia nervosa and has revealed that there may also be metabolic underpinnings to this potentially deadly illness.

12 May 2017

Scientists identify unusual mutations in endometriosis using gene sequencing tools

Using gene sequencing tools, scientists from Johns Hopkins Medicine and the University of British Columbia have found a set of genetic mutations in samples from 24 women with benign endometriosis, a painful disorder marked by the growth of uterine tissue outside of the womb.

11 May 2017

Genomics

Researchers identify key regulator gene for formation of cardiac valves

Study shows how different genetic mutations cause acute myeloid leukemia

Scientists identify new risk genes providing insights about cause of CAD

Pitt scientists discover genes responsible for severe congenital heart disease

Study uncovers new genes linked to intelligence

Researchers identify genetic mutations that predict better prognosis for neuroblastoma patients

Study provides new understanding of silent gene changes and genetic complexity of cystic fibrosis

Protein that helps regulate childhood growth could become possible target for anticancer therapies

Scientists reveal new control mechanism for gene that causes Opitz syndrome

Scientists identify gene linked to incurable bowel disorders

Experimental gene therapy proven safe for preserving vision of people with AMD

Researchers discover likely cause for visual impairment in Finnish variant of NCL

Spanish scientists develop promising gene therapy method to treat Wilson's disease

Researchers identify many dangerous strains of TB pathogens

JAX researcher awarded federal grant for genomic studies of healthy aging and Alzheimer's disease

New gene variant linked to Lou Gehrig's disease

Analyzing single-cell RNA data in pre-malignant tumors

Mayo Clinic research advances understanding of DNA repair mechanisms

Study identifies first genetic locus for anorexia nervosa

Scientists identify unusual mutations in endometriosis using gene sequencing tools

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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