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Remains Show Prehistoric Peoples Cared for Those With Down Syndrome

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 they were included as part of the community despite their differences, researchers said.

Six cases of Down syndrom...

Bats Don't Get Cancer, and Scientists Are Closer to Understanding Why

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 journal Genome Biology and ...

Testing Entire Genome Twice as Good at Spotting Genetic Disorders as Targeted Tests Are

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...

Disease That Permanently Bends Fingers Could Have Origins in Neanderthal Genes

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.

Up ...

Exercise No Threat to People With an Inherited Form of Enlarged Heart

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 thickened and enlarged.

HCM is an inherited disorder that affects about one in 500 people worldwide. It is associat...

Should All U.S. Newborns Undergo Genomic Testing?

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.

Testing, surveillance and treatment options exist for over 600 genetic conditions. This includes a growing number of devastat...

Research Reveals Cause of Deadly Disease Affecting Native American Kids

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.

While people with the inherited condition Glutaric Aciduria Type I (GA-1) had been believed to be affected by toxic subs...

New Drug May Treat Rare Diseases That Make Exposure to Sunlight Painful

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 clinical trial, researchers tested the drug for patients with either of two related conditions: erythropoietic protoporp...

Just 2 Kids Worldwide Are Known to Have This Rare Genetic Disease. Their Parents United for a Cure

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 ...

Most College Athletes With Genetic Heart Trouble Can Safely Play Sports: Study

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...

New Hope Against 'Incurable' Liver Disease That Kills Children

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 babies a year are born with this condition. Often, they require a liver transplant, which is not always available. With...

Gene Therapy Used for First Time to Correct Fatal Illness Before Birth

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.

Doctors from the United States and Canada published a case study Nov. 9 in the

  • Cara Murez HealthDay Reporter
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  • November 10, 2022
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    • Hints That Experimental Drug Might Curb a Form of ALS

    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 amyotrophic lateral sclerosis, also kn...

    Major Gene Study Spots DNA Tied to Autism, Other Disorders

    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 to date, involving more than 150,000 participants, including 20,000 diagnosed with autism.

    The researchers found t...

    Science Brings Shortcut to Spotting 50 Rare Genetic Diseases

    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...

    Early Trial Offers Hope Treating Rare 'Brittle Bone' Disease

    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...

    Did Your Gene Screen Turn Up Dangerous DNA? Study Finds Real Risk Is Low

    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,

    New Clues to Sudden Unexplained Deaths in Young Kids

    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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    • Highly Inbred, French Bulldogs Face Higher Odds for 20 Health Issues

    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...

    Could Gene Therapy Help Cure Sickle Cell Disease?

    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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    • More Time Outdoors May Lower Risk of MS in Youth

    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 May Reverse Hurler Syndrome, a Rare and Severe Illness in Kids

    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.

    ...

    Blood Test Looks at Patients' Whole Genome to Spot Rare Inherited Diseases

    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...

    Why Are Cases of Pancreatic Cancer Rising in Young Women?

    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.

    Ten Years On, Gene Therapy Still Beating Most Cases of 'Bubble Boy' Immune Disease

    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'...

    Child Cancers Are Rare, But Here Are Signs to Look For

    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...

    Insights Into Genes Driving Epilepsy Could Help With Treatment

    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...