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.
Lots of Americans will unwrap a scarf or sweater this holiday season. But a growing number will receive a gift that's potentially life-changing: an at-home genetic testing kit.
Home DNA testing yields clues to ancestry and, potentially, genetic risk for medical conditions. But there are a number of things you need to know before you use one of these kits, the Alzheimer's Foundation of...
Kids with summer birthdays, especially those who spend long hours playing on smartphones and tablets, might be at greater risk for vision problems, a new study suggests.
Nearsightedness, also called myopia, is on the rise worldwide. It's what eye doctors call a refractive error, meaning the eyes can't focus light properly. The result: Close objects look clear; distant ones, fuzzy.
It's not always easy -- even for doctors -- to tell if someone has type 1 or type 2 diabetes when they're diagnosed as an adult.
And a new study finds mistakes are common.
That's what happened to British Prime Minister Theresa May when she was diagnosed with type 2 diabetes in 2012. She was in her 50s at the time. Despite having all of the symptoms common to type 1 diabetes...
Only a small percentage of Americans have had their DNA analyzed -- but many are tempted to try it, according to new research.
For the study, University of Michigan researchers surveyed nearly 1,000 adults aged 50 to 64. While curious about their ancestry or health risks, the majority said they fear they'll worry excessively if they learn they have genetic links to progressive diseas...
Testing for gene mutations linked to breast and ovarian cancer is rare among some Medicare patients who have the cancers and qualify for such tests, a new study finds.
Researchers analyzed data from 12 southeastern states between 2000 and 2014. Only 8 percent of 92 women who met Medicare criteria for BRCA1 and BRCA2 gene testing received it within five years of their cancer diagnosis,...
High levels of exposure to the insecticide DDT in women seems to more than double the risk of autism in their children, new research suggests.
The study looked for a link between the development of autism and two common environmental chemicals -- DDT and PCBs. PCBs are chemicals that were used in many products, especially transformers and electrical equipment. In this study, they wer...
Evolutionary changes in the human brain may be responsible for psychiatric illnesses such as schizophrenia and bipolar disorder, new research suggests.
The researchers identified long, noncoding stretches of DNA (called "repeat arrays") in a gene that governs calcium transport in the brain. Their findings were published Aug. 9 in the American Journal of Human Genetics.
Many lives could be saved if relatives of patients with aortic diseases underwent routine screening and genetic testing, a new study suggests.
Aneurysms, tears in the lining called dissections and other types of thoracic aortic disease (TAD) are often undetected until they become life-threatening emergencies. At that point, the risk of death is about 80 percent.
Scientists may have found a way to slip a special type of disease-fighting virus past the guard of the body's immune system and into targeted cells where it can do its intended work, according to new research presented Tuesday at a scientific conference.
The body naturally reacts to viruses by fighting them off with antibodies that neutralize them and help the body develop an immuni...
Early humans' ability to adapt to cold climates may have been helped by a genetic variant that's common in modern people who live in colder regions -- and is linked with migraine headaches, researchers say.
Within the last 50,000 years, humans left Africa and colonized cold areas in Asia, Europe, and other parts of the world. And this colonization could have triggered genetic adaptati...
French Bulldogs can melt your heart with their wrinkled faces and big ears, but they come with a special set of health problems, a new report warns.
The breed is becoming the most popular in the United Kingdom, so researchers at the Royal Veterinary College analyzed data from more than 2,200 French Bulldogs that received care at more than 300 veterinary clinics in 2013.
Children born to parents who are cousins have a significant risk for developing a mood disorder -- such as depression or anxiety -- when they grow up, a new study suggests.
For adults whose parents are first-cousins, the risk is triple that of people whose parents are unrelated, the researchers reported. And, mood disorder risk is also significantly higher among children of second-cou...