Get Healthy!

Results for search "Genetic Disorders".

Health News Results - 49

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.

<...

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...

Approach That New Gene Testing Kit With Caution

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...

Many Americans Unaware of Promise of Targeted, 'Personalized' Medicine: Poll

Medical science has made tremendous advances in "personalized medicine" -- drugs that fight cancer and other diseases by boosting the immune system or targeting specific genetic traits.

Former U.S. President Jimmy Carter benefited from one of these drugs, Keytruda (pembrolizumab), which successfully beat back his brain cancer by ramping up his immune system.

But the American...

Smartphones, Summer Birth Could Raise Kids' Odds for Nearsightedness

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.

...

Type 1 Diabetes Often Misdiagnosed in Adults

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...

Many Americans Curious, But Wary, About Gene Testing

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...

Most People Don't Know if They Have Genetic Risk for Cancer

Most people carrying genes that put them at risk for cancer don't realize it, new research suggests.

Genetic screenings of more than 50,000 people found that more than 80 percent of those who carry a known gene variant for breast, ovarian, prostate or pancreatic cancer were unaware of their risk.

Researchers noted that most people carrying cancer-associated variants in the B...

Genetic Testing for Cancer Lacking for Women on Medicare: Study

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,...

Research Links Long-Banned Insecticide DDT to Autism

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...

Gene Test Predicts Risk of 5 Common Diseases

A new type of genetic analysis could identify millions of Americans at high risk for five serious and common diseases, researchers report.

The diseases include coronary artery disease, the heart rhythm disorder atrial fibrillation, type 2 diabetes, inflammatory bowel disease and breast cancer.

Researchers tested and validated the genetic risk score on data from more 400,000 ...

Is Evolution of the Human Brain to Blame for Some Mental Disorders?

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.

<...

Frequent Skin Cancers May Signal Risk of Other Cancers, Too

People who have frequent recurrences of a common skin cancer may be at increased risk of a range of other cancers, a new study suggests.

Researchers found the heightened risk among patients who'd had many bouts of basal cell carcinoma (BCC) -- a highly treatable form of skin cancer diagnosed in over 3 million Americans each year.

Patients who'd developed at least six BCCs ov...

Study Urges Genetic Testing of Relatives of Aortic Disease Patients

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.

The aorta i...

AHA: Scientists May Have Cleared Gene Therapy Hurdle

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...