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New NIH program provides comprehensive treatment for inherited blood and immune diseases

September 27, 2019

People with inherited diseases of the blood and immune system can now receive treatment at the National Institutes…
We Are All Mutants, More or Less

September 26, 2019

Everyone is a mutant but some are prone to diverge more than others, report scientists at University of Utah…
Yale researchers identify rare inherited immune disease

September 26, 2019

When a 9-year-old girl with anemia, breathing problems, and recurrent infections sought help for her mysterious ailments, Yale…
A Child’s Shattered Chromosomes Illustrate the Value of Supportive Therapies

September 23, 2019

To a trained eye, the chromosome chart (karyotype) above has 4 irregularities, circled in red. They’re chromosome pairs…
Cause of rare, fatal disorder in young children pinpointed

September 17, 2019

Scientists at Washington University School of Medicine in St. Louis appear to have solved a decades-long mystery regarding…
Scientists identified genetic factors of psychopathy and pointed out a potential new treatment

September 4, 2019

Psychopathy – a personality disorder, characterized by extremely antisocial behaviour, radical egoism, lack of empathy and sometimes even…
Polycystic Kidney Disease: Strike Three

August 29, 2019

For people with polycystic kidney disease (PKD), life can be a never-ending cycle of symptoms: aches and pains,…
Electronic records pin broad set of health risks on genetic premutation

August 26, 2019

It was long believed the FMR1 premutation — an excessive number of trinucleotide repeats in the FMR1 gene…
Unraveling links to possible origins, better treatment for genetic disorders

July 30, 2019

New tool designed at MU will allow scientists to study a detailed view of the interaction between genes,…
Genetic Origin of Severe Developmental Eye Condition Identified

July 10, 2019

The finding is a promising step forward in understanding eye growth – and potentially fixing near- and far-sightedness.…
Researchers’ discovery could lead to improved therapies for Duchenne muscular dystrophy

June 17, 2019

A new multi-institution study spearheaded by researchers at Florida State University and the University of California, Los Angeles…
Any which way: Flies go all-in to overcome defect, reach adulthood

June 14, 2019

New research from the University of Nebraska-Lincoln has revealed how fruit fly larvae with a seemingly fatal flaw…
Gene study suggests drugs may treat some aneurysms

June 7, 2019

A mutation has been found in a rare form of brain aneurysm that might be treated with a…
Children with Fragile X Syndrome could benefit from drugs used to treat high cholesterol

May 30, 2019

Fragile X Syndrome is a debilitating condition, which occurs when a particular gene is disrupted causing disturbed communication…
Summit Charts a Course to Uncover the Origins of Genetic Diseases

May 21, 2019

Environmental conditions, lifestyle choices, chemical exposure, and foodborne and airborne pathogens are among the external factors that can…
The Mystery Behind Cleft Palate and Lips: Study Shines a Light on Genetic Factors

May 8, 2019

Cleft lip and palate (CL/P) is the second most common birth defect in the world, affecting 1 in…
Genetic conditions lead to range of overlapping needs in children

May 7, 2019

Deletions and duplications of DNA are responsible for wide-ranging developmental difficulties in children, finds a new study by…
Gene Discovery Shows Effects of Impaired Protein Synthesis

May 7, 2019

Researchers identify genetic variants that lead to a severe developmental syndrome. The findings could mean better screening and…
British company, Clinithink, part of a collaboration helping to diagnose rare disease in record time

April 30, 2019

A study published in Science Translational Medicine documents the role played by Clinithink’s patented clinical natural language processing…
Québec siblings with rare orphan disease lead to discovery of rare genetic diseases

April 26, 2019

Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases…
Team Designs an App for HHT Patients

April 2, 2019

Help for a rare genetic blood vessel disorder that can attack the nose, brain and lungs is available…
Scientists studying Krabbe’s disease take a novel approach to this fatal disease that strikes newborns

April 2, 2019

NIH has awarded $2 million to UB’s Hunter James Kelly Research Institute to pursue a new direction in…
Genetic targets for AMD offer the opportunity for new treatments

February 27, 2019

Age related macular degeneration (AMD) is the third cause of visual impairment worldwide and the leading cause of…
DNA puzzle uncovers rare chromosome defects

February 15, 2019

Using puzzle pieces from four different DNA analyses, researchers at Karolinska Institutet have been able to map three…
Bad Brakes of the Heart

February 1, 2019

Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the heart and a leading cause of sudden cardiac death in young people…
Common gene disorder causes serious “stealth” disease, but could be easily treated

January 17, 2019

The Western world’s most common genetic disorder causes far higher levels of serious disease and disability than previously…
Researchers map previously unknown disease in children

January 14, 2019

Professor Bente Vilsen from Aarhus University and her research group have mapped out a newly discovered serious disease…
Mice sleeping fitfully provide clues to insomnia

January 8, 2019

Mice that sleep fitfully could help researchers unravel the mystery of insomnia. Researchers at Washington University School of…
Decoding the Newborn

January 7, 2019

As genomic sequencing becomes increasingly common in the clinic, questions linger about its use and role in newborn…
Bulldogs’ Screw Tails Linked to Human Genetic Disease

January 4, 2019

With their small size, stubby faces and wide-set eyes, bulldogs, French bulldogs and Boston terriers are among the…
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