Rare gene-driven defects such as Down syndrome have occurred among human beings for many thousands of years, a new analysis of ancient DNA has revealed.
Not only did the birth defects exist, but these infants were often buried with care by their community. That suggests ...
Bats have an extraordinary ability to avoid cancer and handle infections, and researchers now think they might know why.
Specific genetic adaptations caused by rapid evolution have made bats extremely cancer-resistant, researchers report in the Sept. 20 issue of the jour...
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. Th...
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 Du...
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 thicke...
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.
Testi...
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.
...
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 ...
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 development...
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-trigge...
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...
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.
People with a rare genetic form of ALS may benefit from extended use of an investigational drug, a new study shows.
The medication, tofersen, benefited patients with mutations of the gene SOD1. These mutations create a misfolded version of a protein, which leads to
More than 70 genes are very strongly associated with autism and more than 250 are linked to the condition, a major new genetic analysis has revealed.
The analysis is the largest of its kind ...
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-expans...
An experimental drug may help build bone mass in some adults with a rare brittle-bone disease, a small preliminary study suggests.
The disease is called osteogenesis imperfecta....
Most gene variants that have been labeled "pathogenic" may make only a small difference in a person's risk of actually developing disease, a new study suggests.
Every year in the United States, a few hundred children die suddenly and without explanation. Now researchers have found gene variants that may contribute to some of those tragic deaths.
The hope, experts said, is that understanding the underlying mechanisms will eventua...
French Bulldogs are incredibly cute, sporting adorable snub snouts, big round heads, bright wide eyes and large bat ears.
Unfortunately, the physical traits that make them one of the most popular breeds in the United States and United Kingdom also saddle them with a host...
A gene therapy that could provide a permanent cure for sickle cell disease continues to show success through a third wave of patients, researchers report.
The therapy, LentiGlobin, restored normal blood function in 35 sickle cell patients who had the one-time procedure, ...
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 develop...
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 ...
Whole genome sequencing of blood samples improves detection of rare genetic conditions called mitochondrial disorders, British researchers report.
These disorders are inherited and affect about 1 in 4,300 people, causing progressive, incurable diseases.
Though they...
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...
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...
Most parents want their children to live carefree lives, so a diagnosis of childhood cancer is devastating. Fortunately, pediatric cancers are rare.
Yet it doesn't hurt to be watchful for the warning signs, suggest experts in childhood cancer from Penn State Health....
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 epile...
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 gene...
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 polyg...
A gene variant may be driving high rates of unnecessary bone marrow biopsies in Black Americans, researchers say.
The variant is responsible for lower white blood cell levels in some healthy Black people, the investigators said.
"We've essentially created this raci...
Early research suggests that CRISPR gene-editing technology may some day lead to dramatic relief for patients struggling with amyloidosis, a rare but serious disease that can trigger organ failure.
"There are many different types of amyloidosis," explained study author D...
Cancer might seem like a modern problem, but new research has revealed that it affected up to 14% of adults in medieval Britain.
University of Cambridge researchers used X-rays and CT scans to search for evidence of cancer inside skeletal remains excavated as part of an ...
There's no evidence of genetic damage in the children of parents who were exposed to radiation from the 1986 Chernobyl Nuclear Power Plant disaster in Ukraine, researchers say.
Several previous studies have examined the risks across generations of radiation exposure from...
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 th...
Lab-created heart valves that grow with the recipient could spare kids born with heart defects from the repeated valve-replacement surgeries they now endure.
University of Minnesota researchers found that lab-created valves implanted in young lambs for a year were capabl...
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 ...
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 COVI...
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 th...
A pair of new gene therapies promise a potentially lasting cure for sickle cell disease by subtly altering the genetic information in patients' bone marrow cells, researchers report.
Both therapies work by switching on a gene that promotes production of fetal hemogl...
Major birth defects are associated with an increased, lifelong risk of cancer, researchers say.
It has been known that people with major birth defects have a greater risk of developing cancer as children and teens, but it wasn't clear whether the risk extends into adulth...
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 alre...
Families bond over lots of shared experiences -- but one Leslie Seigel and her adult son, Josh, never expected to share was battling cancer.
Soon after Leslie finished chemotherapy for an aggressive form of breast cancer, however, Josh found himself waging his own ba...
A genetic variant in some people may be associated with mental decline that can't be explained by deposits of two proteins linked with Alzheimer's disease, researchers say.
They said their findings could lead to new treatments for Alzheimer's.
The two prote...
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 ...
Dutch researchers have identified a common genetic variant as a cause of deafness, and say it could be a good target for gene therapy.
Deafness in adults is known to be inherited but, unlike childhood deafness, the genetic causes aren't clear.
To date, 118 ...
People who have a flawed gene linked to Alzheimer's disease may face a higher risk of COVID-19, an international team of researchers reports.
Part of the increased risk among people with dementia may owe to high rates of new coronavirus infections in nursing homes. B...
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 admitte...
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 cleidocrania...
A genetic variant associated with Alzheimer's disease increases the risk of dementia in people with Parkinson's disease, researchers say.
The finding could lead to new treatments for dementia in Parkinson's patients, according to the team at Washington University Sch...
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 investi...