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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.

Som...

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. It's caused by defects in certain genes involved in making collagen -- a key protein in the body's connective tissue. O...

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.

Scouring genetic data on more than 72,000 individuals,

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 eventually lead to ways to save lives.

Since the 1990s, the term

  • Amy Norton HealthDay Reporter
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  • December 28, 2021
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  • 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 of health problems, a new study shows.

    Frenchies have significantly higher odds than other dog breeds of being di...

    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, according to clinical trial findings published Dec. 12 in the

  • Dennis Thompson HealthDay Reporter
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  • December 13, 2021
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  • 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.

    "In families where there'...

    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.

    ...

    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 are among the most common inherited disorders, mitochondrial disorders are tough to diagnose because they can affect ma...

    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).

    It'...

    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.

    The best screening most parents can do is to stay on track with well-child visits, the doctors said.

    "For e...

    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 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 racial health disparity by not fully considering how genetic variation affects white blood cell levels," said study co-autho...

    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 Dr. Julian Gillmore, a researcher in medicine with the Centre for Amyloidosis and Acute Phase Proteins at University Coll...

    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 ongoing study of medieval life.

    The investigators found rates of cancer about 10 times higher than had been previ...

    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 events such as this, but have yielded inconclusive results.

    In this study, the investigators analyzed the genomes...

    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...

    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 capable of growing within the recipient.

    "This is a huge step forward in pediatric heart research," said senior research...

    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.

    "Sickle cell disease patients should...

    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...

    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 hemoglobin, said Dr. Lewis Hsu, chief medical officer of the Sickle Cell Disease Association of America.

    Sickle cell dis...

    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 adulthood.

    To find out, Norwegian researchers compared more than 62,000 people in Scandinavia, aged 46 and younger, who ...

    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...

    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 battle with testicular cancer.

    The mother and son soon learned they shared something else -- a genetic mutation ...

    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 proteins are amyloid β and tau. Amyloid forms into plaques and tau forms into tangles. Both are found in the brains of A...

    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.

    The ...

    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 genes have been linked to deafness. Variants in these genes explain much of the deafness present at birth and in childho...

    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. But this study suggests genetics may also be a factor.

    The APOE e4e4 gene variant is known to increase Alzheime...

    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 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 School of Medicine in St. Louis.

    Parkinson's disease is a progressive neurological disorder that causes tremors, ...

    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.

    These p...

    Cancer is a genetically driven disease, and a mother lode of new genetic data on dozens of different cancers is promising to break open fresh avenues of prevention and treatment.

    Nineteen out of 20 cancers now can be tracked back to one or more specific genetic mutations, based on data gathered from in-depth sequencing of thousands of whole-cancer genomes, researchers say.

    "...

    New research involving the DNA of 200,000 U.S. veterans suggests that there really is such a thing as a "worry gene."

    Researchers have identified six genetic variants linked to anxiety -- a discovery that may help explain why anxiety and depression often go hand in hand.

    "This is the richest set of results for the genetic basis of anxiety to date," said study co-lead author...

    "Designer babies" aren't going to be a reality anytime soon, researchers say.

    Concerns about genetically altering embryos to have desired traits have been around nearly as long as in vitro fertilization (IVF) and the technology to screen embryos have existed.

    But while recent live births resulting from embryonic CRISPR gene editing have re-focused attention on the issue, the...

    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 three-drug combo that significantly improves lung function in cystic fibrosis patients could benefit 90% of people with the life-threatening disease, a new study suggests.

    It included patients with a single copy of the most common genetic mutation for the disease.

    Results of the international phase 3 clinical trial led the U.S. Food and Drug Administration to approve ...

    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.

    Tr...

    Most people expect some risk in activities like mountain biking or rollerblading, but few would expect to end up in the emergency room with a broken thigh bone from doing a squat.

    That's exactly what happened to Rachael Jones, 39, who was just trying to stay in shape, despite having a lifelong genetic illness.

    The broken femur wasn't her first broken bone -- and it may not...

    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...

    Too much white bread and pasta fed to at-risk kids under age 5 could increase their odds of developing celiac disease, a new international study has concluded.

    Every extra daily gram of gluten a young child eats increases their risk of celiac disease, if they are genetically predisposed to it, researchers found.

    For example, eating an extra half-slice of white bread every day at...

    Children with birth defects may be at increased risk for childhood cancer, a new study finds.

    Researchers analyzed data from more than 10 million children born in Texas, Arkansas, Michigan and North Carolina between 1992 and 2013.

    Compared to children without a birth defect, those with genetic defects were almost 12 times more likely to develop cancer by age 18. Those whose ...

    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.

    In the new study, r...

    Some folks are more prone to fainting than others, and the reason might lie in their DNA.

    Danish researchers who analyzed millions of gene variants in DNA of 400,000 people have zeroed in on a gene that increases a person's risk for fainting.

    It's believed that 20% to 30% of people faint at least once in their lifetime, often due to heat, dehydration or anxiety. But ...

    It has long been known that lifestyle affects a person's risk of developing type 2 diabetes. Now, researchers report that they have identified rare variants of four genes that may also play a part.

    For the study, an international team of scientists analyzed protein-coding genes from nearly 21,000 people with type 2 diabetes and 25,000 people without diabetes across a range of ethnici...

    More than 1 million Americans have a genetic condition that pushes their cholesterol to dangerously high levels, but many don't know it.

    Now, researchers offer a possible way to get more people with so-called familial hypercholesterolemia into treatment for this potentially life-threatening problem.

    "The blood donor system could be a portal to understand who has genetic chol...