Identifying genetic disorders in newborns and infants can help them get the care they need, but one approach -- whole genome sequencing -- appears far superior to another.

In a new study, researchers compared whole genome sequencing with targeted gene-sequencing. They found that whole genome sequencing (WGS) was nearly twice as effective at finding the abnormalities that lead to diso...

The so-called "Viking disease"causes the fingers of many aging northern European men to lock up in a bent position, and researchers now think they know why.

Genetic variants inherited from Neanderthal man appear to be the most powerful risk factors for developing Dupuytren's contracture -- called the Viking disease because it mainly affects men descended from northern Europeans.

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People with the rare heart disorder hypertrophic cardiomyopathy (HCM) can safely engage in vigorous exercise, according to new research.

This finding could lead to fewer activity restrictions for people with this condition, which involves the heart muscle becoming thickened and enlarged.

HCM is an inherited disorder that affects about one in 500 people worldwide. It is associat...

While newborns are only screened for about 60 treatable conditions, there are hundreds of genetic disorders that have targeted treatments.

Now, a national survey of experts in rare diseases found the vast majority support DNA sequencing in healthy newborns.

Testing, surveillance and treatment options exist for over 600 genetic conditions. This includes a growing number of devastat...

Scientists say their new study has overturned settled science, finding a new cause for a metabolic disease that causes neurological damage and sometimes death in Native American children.

The good news is that this may lead to better treatment for the condition.

While people with the inherited condition Glutaric Aciduria Type I (GA-1) had been believed to be affected by toxic subs...

It sounds like the stuff of a vampire novel, but for people with a group of rare genetic disorders, exposure to sunlight can cause excruciating pain.

Now, an experimental medication is showing promise for helping them better tolerate the light of day.

In an early clinical trial, researchers tested the drug for patients with either of two related conditions: erythropoietic protoporp...

When Yoni Silverman, now 13, was a toddler, his parents fretted as he missed milestone after milestone. The New York City couple took their son to a host of specialists, searching for answers about why he wasn't speaking and had difficulty with balance, among other developmental issues.

Fast forward a few years later, and a Boston couple was going through something similar with their now ...

New research offers hope to elite athletes who have genetic heart conditions but still want to play sports.

In the new study, after a follow-up of seven years, researchers found that 95% of athletes with a diagnosed and treated genetic heart disease had no disease-triggered cardiac events. These would have included fainting or seizures, implantable cardio-defibrillator (ICD) shocks, sudde...

Patients with an incurable, genetic liver disease have new hope after an animal study showed that a single drug could reverse its effects.

Alagille syndrome is caused by a mutation that prevents the formation and regeneration of bile ducts in the liver.

About 4,000 babies a year are born with this condition. Often, they require a liver transplant, which is not always available. With...

Doctors are hopeful that an innovative treatment performed before birth may help children born with the rare genetic, and often fatal, condition called Pompe disease.

A thriving Canadian toddler is evidence that treatment while still in the womb offers better outcomes.

Doctors from the United States and Canada published a case study Nov. 9 in the