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.
Parents usually know their child better than anyone, and if a parent suspects something is wrong, it probably is.
That was the case for Dan and Laura Wallenberg from Columbus, Ohio. EV Wallenberg was just 5 months old when they noticed that their daughter wasn't eating normally. They scheduled a visit with her pediatrician.
"I knew something wasn't right. But the doctor ju...
A new drug to treat most cystic fibrosis patients has been approved by the U.S. Food and Drug Administration.
Trikafta (elexacaftor/ivacaftor/tezacaftor) is the first triple combination therapy available to treat patients with the most common cystic fibrosis mutation. Its list price is $311,000 a year, same as one of the maker's earlier treatments for the genetic disease.
Mutations in two genes -- BRCA1 and BRCA2 -- are known to significantly increase the risk of breast cancer, but experts have long debated which women should be tested for them.
New recommendations from the U.S. Preventive Services Task Force (USPSTF) may help clarify who can benefit most from a risk assessment test. Now, if a woman has a high risk, the task force is recommending that...
Breast MRI screening is a good way to detect small tumors, but it's unclear how much it benefits women with a history of breast cancer, a new study finds.
Right now, experts recommend that breast cancer survivors have yearly mammograms to help catch any recurrences early. An unresolved question is whether adding breast MRI to that screening is beneficial.
As obesity becomes epidemic among Americans, many could over- or underestimate their odds for piling on the pounds. But a new genetic "score" might take the guesswork out of all of that, researchers say.
Using information on more than 2 million gene variants linked to body weight, the scientists created a so-called polygenic score that may help quantify a person's obesity risk.
When couples experience recurrent pregnancy loss, it's natural for them to want to know why. Now, a new study suggests that sperm DNA damage could be a factor.
Recurrent pregnancy loss is defined as the consecutive loss of three or more pregnancies before 20 weeks' gestation. It affects up to 2 percent of couples and, in many cases, it is difficult to ident...
People whose high cholesterol is resistant to treatment with statin drugs may soon have a new treatment option.
This new class of drugs helps block synthesis of artery-clogging cholesterol, researchers explained. The drugs target an enzyme called ATP citrate lyase (ACL), part of the production pathway for "bad" LDL cholesterol in the body.
It's one of the toughest cancers to beat. But new research suggests that identifying the genetics of pancreatic cancer in individual patients could boost survival for some.
The five-year survival rate for pancreatic cancer patients is less than 9 percent. One reason this cancer is so deadly is that many patients are diagnosed at a late stage and often with inoperable tumors.
Women who have specific mutations in genes known as BRCA are at increased risk for breast and ovarian cancers. Now, an influential expert panel reaffirms that certain women should be screened for the genes.
The draft recommendation comes from the U.S. Preventive Services Task Force, whose advisories often guide physician practice and insurance coverage. The guidelines -- which restate...
The most potent drug available for Parkinson's disease, levodopa, treats symptoms of the disease but does nothing to either ease or increase its still-mysterious underlying causes, a new clinical trial has concluded.
Doctors often delay prescribing levodopa, or L-dopa, to Parkinson's patients for fear that the drug might have toxic effects that produce jerky involuntary body movements o...
Two of every five common diseases are at least partially influenced by a person's genetics, the largest U.S. study of twins ever conducted finds.
Nearly 40 percent of 560 different diseases have a genetic component, while 25 percent are driven by environmental factors shared by twins who are growing up in the same household, the researchers reported.