Genetics News and Research

Latest Genetics News and Research

Study discovers new form of congenital muscular dystrophy caused by faulty INPP5K gene

A new form of congenital muscular dystrophy has been discovered which is caused by mutations in a previously un-linked gene.

9 Feb 2017

Scientists identify gene variants that predispose children to developing Kawasaki disease

Kawasaki disease (KD) is the most common acquired heart disease in children. Untreated, roughly one-quarter of children with KD develop coronary artery aneurysms -- balloon-like bulges of heart vessels -- that may ultimately result in heart attacks, congestive heart failure or sudden death.

9 Feb 2017

Researchers uncover key molecular pathways behind gut bacterial imbalance during inflammation

A study led by UT Southwestern Medical Center researchers has uncovered key molecular pathways behind the disruption of the gut's delicate balance of bacteria during episodes of inflammatory disease.

8 Feb 2017

Wills Eye expert discusses what patients need to know about Age-Related Macular Degeneration

Carl D. Regillo, MD Chief of the Wills Eye Hospital Retina Service discusses what patients need to know about Age-Related Macular Degeneration.

8 Feb 2017

Genetic variant encoded in NCF1 linked to increased risk for autoimmune diseases, study shows

Investigators at the Medical University of South Carolina report pre-clinical research showing that a genetic variant encoded in neutrophil cystolic factor 1 (NCF1) is associated with increased risk for autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, and Sjögren's syndrome, in the January 2017 issue of Nature Genetics.

8 Feb 2017

Geneticists use evolutionary history to shine light on plethora of neurodevelopmental disorders

Geneticists from Trinity College Dublin have used our evolutionary history to shine light on a plethora of neurodevelopmental disorders and diseases.

8 Feb 2017

UCLA researchers identify drug combinations that may be successful in reducing growth of bacteria

A landmark report by the World Health Organization in 2014 observed that antibiotic resistance -- long thought to be a health threat of the future -- had finally become a serious threat to public health around the world.

8 Feb 2017

MGH researchers develop novel approach to analyze brainwave activity during sleep

Massachusetts General Hospital investigators have developed a novel approach to analyze brainwaves during sleep, which promises to give a more detailed and accurate depiction of neurophysiological changes than provided by a traditional sleep study.

8 Feb 2017

New study uncovers important links between glioblastoma and epileptic seizures

Detecting brain tumors at the earliest possible stage and eliminating them before seizures begin might be possible one day, according to research by scientists at Baylor College of Medicine and Texas Children's Hospital.

7 Feb 2017

Studies open new windows into understanding untreatable group of common genetic disorders

Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial features, developmental delays, cognitive impairment and heart problems.

7 Feb 2017

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Research led by scientists at UC San Francisco and Case Western Reserve University School of Medicine has used brain "organoids" — tiny 3D models of human organs that scientists grow in a dish to study disease — to identify root causes of Miller-Dieker Syndrome (MDS), a rare genetic disorder that causes fatal brain malformations.

7 Feb 2017

Patients with early, severe depression symptoms have increased genetic risk for psychiatric disorders

Clinical features of major depressive disorder (MDD) may help identify specific subgroups of depressed patients based on associations with genetic risk for major psychiatric disorders, reports a study in Biological Psychiatry.

7 Feb 2017

Studies reveal link between rotator cuff disease and genetics

A new study presented this week at the Association of Academic Physiatrists Annual Meeting in Las Vegas shows rotator cuff disease might be a heritable trait.

6 Feb 2017

Scientists discover treatment that improves symptoms in mouse model of juvenile Batten disease

Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and King's College London have discovered a treatment that improves the neurological symptoms in a mouse model of juvenile Batten disease.

6 Feb 2017

Genetics News and Research

Latest Genetics News and Research

Study discovers new form of congenital muscular dystrophy caused by faulty INPP5K gene

Scientists identify gene variants that predispose children to developing Kawasaki disease

Researchers uncover key molecular pathways behind gut bacterial imbalance during inflammation

Wills Eye expert discusses what patients need to know about Age-Related Macular Degeneration

Genetic variant encoded in NCF1 linked to increased risk for autoimmune diseases, study shows

Geneticists use evolutionary history to shine light on plethora of neurodevelopmental disorders

UCLA researchers identify drug combinations that may be successful in reducing growth of bacteria

MGH researchers develop novel approach to analyze brainwave activity during sleep

New study uncovers important links between glioblastoma and epileptic seizures

Studies open new windows into understanding untreatable group of common genetic disorders

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Patients with early, severe depression symptoms have increased genetic risk for psychiatric disorders

Studies reveal link between rotator cuff disease and genetics

Scientists discover treatment that improves symptoms in mouse model of juvenile Batten disease

TGen scientists identify novel genomic mutation that causes developmental delays in children

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

Researcher creates molecular diagnostic system that can quickly identify dangerous bacteria

Yale researchers identify new genetic defect in brain tumor cells that prevents DNA repair

Single Molecule Detection of Proteins in Single Cells

GIANT study uncovers new, rare DNA changes that affect human height

Sequencing & Genomics: Elevating Science and Healthcare eBook

Real-time Raman monitoring for pharmaceutical hot melt extrusion

Synthetic Psychedelics: A Growing Public Health Concern

How the Vutara VXL simplifies single-molecule imaging