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.
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...
Scientists have developed a single test that can rapidly detect a collection of rare genetic diseases -- an advance they hope will shorten the "diagnostic odyssey" that people with these conditions can face.
The test diagnoses conditions known collectively as "STR-expansion" disorders, which include more than 50 genetic diseases that affect the brain, nervous system and muscles.
Children at risk for multiple sclerosis (MS) might find some protection from the disease by spending more time in the sun, a small study suggests.
Although MS is rare in children and young adults, those with relatives who have the condition have increased odds of developing the disease early. Exposure to sunlight may cut their risk in half, researchers say.
Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
In a study of eight children with the condition, called Hurler syndrome, researchers found that the gene therapy was safe over two years. It also showed potential for beating the current standard treatment, stem cell transplantation.
In his work with patients who have pancreatic cancer, Dr. Srinivas Gaddam was bothered by something that he was seeing.
"There are some patients that you can't stop thinking about because they've left a mark on you and you try your best to turn things around, but there's only so much you can do," said Gaddam, who said he had found himself caring for a few patients who were very young.
Nine of 10 patients with so-called "bubble boy" immune disease who received gene therapy about a decade ago are still disease-free, researchers report.
The gene therapy was developed at the University of California, Los Angeles (UCLA), to treat the rare and deadly immune system disorder formally known as adenosine deaminase--deficient severe combined immunodeficiency (ADA-SCID).
Danish researchers have found genetic causes for epilepsy in half of children they studied and said half of those could be treated with targeted therapies.
That's the upshot of genetic testing of 290 children born between 2006 and 2011. Some had been diagnosed with epilepsy. Others had had seizures along with a high temperature; they were either long seizures or consciousness was not rega...
Glaucoma is a leading cause of vision loss in older people, and early detection can bring better treatment. Now, researchers in Australia say their experimental genetic test for glaucoma can identify 15 times more people at high risk for the disease compared to a current genetic test.
"Early diagnosis of glaucoma can lead to vision-saving treatment, and genetic information can potentiall...
The notion of parents picking out genetically perfect babies may seem like science fiction, but bioethicists warn in a new report that some companies have already started to offer couples going through in vitro fertilization (IVF) the means to pick better embryos through polygenic scoring.
Polygenic scores are a "weighted average of the contributions of all of the genes we have informatio...
A new medication may offer hope to children with achondroplasia, a rare bone growth disorder that causes very short stature coupled with disproportionate limb and trunk size.
The experimental drug is called vosoritide. By tamping down overactive growth plate signaling that impedes bone growth, the drug seeks to offer affected children the possibility of greater height and improved proport...
An experimental gene therapy for Duchenne muscular dystrophy shows promise, a small study suggests.
The severe form of muscular dystrophy -- which affects about one in 3,500 males born each year in the United States -- causes muscles to progressively weaken and lose the ability to regenerate after an injury.
Muscle tissue is eventually replaced by fat and collagen. Many children wit...
Sickle cell disease increases the risk of death or serious complications from COVID-19 infection, a pair of new studies suggests.
People with sickle cell disease -- a genetic blood disorder predominantly found in Black people -- are 6.2 times more likely to die from COVID-19 than the general Black population of the United States, one study found.
Results from a long-term study of a gene therapy technique to prevent inherited mitochondrial disease show promise, researchers say.
Studies of the technique at Oregon Health & Science University in Portland show no adverse health effects in rhesus macaque monkeys and their offspring. The researchers said the technique could break the cycle of disease passed from mother to baby through mu...
Breast cancer in men is rare. But because it's not often suspected in men, diagnosis often comes only after a tumor has begun to spread throughout the body, new research shows.
"Approximately one-half of males with breast cancer received a diagnosis after it had already spread," either to nearby or distant tissues, said a team of researchers at the U.S. Centers for Disease Control and...
Scientists are well on the way to understanding more about how genes can cause stillbirth, new research suggests.
In the study, researchers used genetic analyses to identify gene mutations that are linked to stillbirth, which is the in utero death of a fetus after 20 weeks' gestation. The findings might help doctors counsel parents who have experienced a stillbirth.
Genetic mutations that put some younger people at high risk for severe illness from the new coronavirus will be investigated in an international study.
Plans call for enrolling 500 patients worldwide who are under age 50, have been diagnosed with COVID-19 and admitted to an intensive care unit, and have no underlying health problems such as diabetes, heart disease or lung disease.
Teenage actor Gaten Matarazzo III was born with a rare genetic disorder that affects bone development. And ever since his Netflix series "Stranger Things" became a hit, public interest in the condition has shot up, a new study finds.
The disorder, called cleidocranial dysplasia (CCD), affects only about one in a million people, according to the U.S. National Institutes of Health. Caus...
A breakthrough study has identified a class of natural gene variants that may protect against Alzheimer's disease.
For the study, researchers at University College London analyzed DNA from more than 10,000 people -- half with Alzheimer's and half without. The investigators found that these gene variants reduce the functioning of proteins called tyrosine phosphatases.