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Results for search "Genetic Disorders".

Health News Results - 47

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...

A Better Test to Help Spot Glaucoma?

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...

Gene-Based Embryo Selection: Are 'Designer Babies' on the Horizon?

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...

Gene Differences Could Have Black Patients Undergoing Unnecessary Biopsies

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...

CRISPR Therapy Fights Rare Disease Where Protein Clogs Organs

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...

Cancers Far More Common in Medieval Times Than Thought

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...

No Genetic Damage to Kids of Those Exposed to Chernobyl Nuclear Disaster: Study

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...

Drug Shows Promise Against Rare Condition That Stunts Kids' Growth

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-Made Heart Valves Can Grow Along With Youngest Heart Patients

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...

Early Promise for Therapy Against Duchenne Muscular Dystrophy

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 Puts Black Patients at Higher Risk for Severe COVID

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...

Gene Therapy Shows No Long-Term Harm in Animals: Study

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...

Could Gene Therapy Cure Sickle Cell Disease? Two New Studies Raise Hopes

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...

Birth Defects Tied to Rise in Lifelong Cancer Risk

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 ...

Many Male Breast Cancers Diagnosed Late, and Delays Can Be Lethal

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...

Mother and Son Draw Hope, Healing From Shared Cancer Treatment

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 ...

New Research Links Another Gene to Alzheimer's Risk

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...

Genetic Research May Help Identify Causes of Stillbirth

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 ...

More Clues to the Genes Behind Hearing Loss

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...

Alzheimer's Gene Linked to Severe COVID-19 Risk

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...

Do Gene Mutations Explain COVID-19 Cases in the Young?

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.

...

How 'Stranger Things' Widened Awareness of a Rare Disorder

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...

Gene Variant Ups Dementia Risk in Parkinson's Patients: Study

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, ...

Gene Variation May Protect Against Alzheimer's: Study

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...

New Gene Study Unravels Cancer's Secrets

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.

"...

Veterans' Study Shows Genetic Origins of Anxiety

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' a Long Way Off

"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...

'Don't Give Up:' Parents' Intuition Spots a Rare Illness Before Doctors Do

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...

Drug Trio Could Give Patients With Cystic Fibrosis a New Option

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 ...

FDA Approves New Drug for Most Common Form of Cystic Fibrosis

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...

For This Mom, Rare Bone Disease Is a Family Affair

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...

U.S. Task Force Updates Breast Cancer Gene Testing Recommendations

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...

Lots of Gluten During Toddler Years Might Raise Odds for Celiac Disease

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...

How Do Birth Defects Affect Childhood Cancer Risk?

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 ...

Is MRI Screening Worth It for Breast Cancer Survivors?

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...

Do You Have the 'Fainting Gene'?

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 ...

New Gene Variants for Type 2 Diabetes Found

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...

Blood Banks Could Help Screen for Hereditary High Cholesterol

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...

Will You Get Fat? Genetic Test May Tell

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.

...

Sperm DNA Damage May Lead to Repeat Miscarriages: Study

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...

New Drug Could Help Those With Tough-to-Treat Cholesterol

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.

In the new trial, bempedoic acid, a pil...

Genomics Could Improve Treatment of Pancreatic Cancer

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.

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Should You Get Tested for the 'Breast Cancer Genes'?

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...

Good News, Bad News on Levodopa for Parkinson's Disease

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...

Gene-Linked Iron Disorder More Common Than Thought

The most common genetic disorder among northern Europeans -- called hemochromatosis -- occurs more often than previously thought, according to a new study.

The researchers also found that people with the condition often develop serious health problems.

People with hemochromatosis -- a build-up of iron in the body that can damage the liver, heart and other organs -- have two ...

Nature or Nurture? Twins Study Helps Sort Out Genes' Role in Disease

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.

Brain disorders were mos...