Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This 'treatable fetal findings list' could improve the diagnosis of genetic ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

Hypermobile Ehlers–Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders. Early estimates have reported that this genetic disorder affects at least one in 5,000 ...

Milan, Italy: A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...

Ahmedabad: The city recently got the national biobank for lysosomal storage disorders at the FRIGE Institute of Human Genetics. Lysosomal storage disorders (LSDs) are a diverse group of over 70 rare, ...

In two new studies on 28,000 individuals, researchers are able to show that genetic variants in 11 regions of the human genome have a clear influence on which bacteria are in the gut and what they do ...

Forbes contributors publish independent expert analyses and insights. Recent breakthroughs in genetics research may have uncovered new genes underlying common psychiatric disorders. Schizophrenia and ...

Department of Pediatrics, SMGS Hospital, Govt Medical College Jammu, in collaboration with Department of Zoology/Institute of ...

Muscles make up nearly 40% of the human body and power every move we make, from a child's first steps to recovery after ...