6. Ehlers-Danlos Syndrome. Halfway on our list of most interesting and extremely rare genetic disorders is Ehlers-Danlos Syndrome.The subdivisions of this disorder are arthrochalasia type, cardiac ...

Tiny fat bubbles carrying gene therapy have successfully repaired DNA in the lungs and liver of animals with alpha-1 ...

Though rare diseases, caused by variations in DNA sequences, affect fewer than 1 in 2,000 people, the sheer number of rare genetic disorders at around 8,000 impacts about 8%–10% of births worldwide.

The research team studied 10 families impacted by a severe genetic disorder that results in affected individuals having profound pre- and postnatal microcephaly (smaller head circumference), with ...

But the 7,000 or so known rare diseases affect as many as 10 percent of the U.S. population. About 80 percent are genetic and about half appear in children, many of whom don’t survive into ...

SYNGAP1-related disorders are among the 7,000-plus rare diseases in the world that roughly 300 million people contend with daily, The Lancet Global Health reports. Changes to NIH funding streams, ...

Prince Frederik of Luxembourg died from a genetic disease called PolG, but experts hope his passing could bring more awareness to the rare condition that impacted his life.. Prince Frederik, 22 ...

Severe Combined Immunodeficiency (SCID) and Omenn syndrome are both rare genetic disorders that leave children without a functional immune system and at risk of life-threatening infections.

Since 2014, Graham, who has Ehlers-Danlos Syndrome, said she has undergone 10 surgeries. EDS is a rare genetic disorder that can weaken blood vessels, cause extreme elasticity of the skin and make ...

Shawn Clark’s family was affected by retinal vasculopathy with cerebral leukoencephalopathy, or RVCL, a rare genetic disorder that affects 100% of people with mutations in the TREX1 gene.