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Drug Trio Could Give Patients With Cystic Fibrosis a New Option

FRIDAY, Nov. 1, 2019 (HealthDay News) -- 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....

FDA Approves New Drug for Most Common Form of Cystic Fibrosis

TUESDAY, Oct. 22, 2019 (HealthDay News) -- 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 treat...

For This Mom, Rare Bone Disease Is a Family Affair

FRIDAY, Sept. 13, 2019 (HealthDay News) -- 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 was...

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

TUESDAY, Aug. 20, 2019 (HealthDay News) -- 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 hig...

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

TUESDAY, Aug. 13, 2019 (HealthDay News) -- 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 e...

How Do Birth Defects Affect Childhood Cancer Risk?

THURSDAY, June 20, 2019 (HealthDay News) -- 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 like...

Is MRI Screening Worth It for Breast Cancer Survivors?

TUESDAY, June 4, 2019 (HealthDay News) -- 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...

Do You Have the 'Fainting Gene'?

TUESDAY, May 28, 2019 (HealthDay News) -- 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...

New Gene Variants for Type 2 Diabetes Found

THURSDAY, May 23, 2019 (HealthDay News) -- 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...

Blood Banks Could Help Screen for Hereditary High Cholesterol

WEDNESDAY, May 22, 2019 (HealthDay News) -- 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...

Will You Get Fat? Genetic Test May Tell

THURSDAY, April 18, 2019 (HealthDay News) -- 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 ma...

Sperm DNA Damage May Lead to Repeat Miscarriages: Study

SUNDAY, March 24, 2019 (HealthDay News) -- 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 a...

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

THURSDAY, March 14, 2019 (HealthDay News) -- 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.

Genomics Could Improve Treatment of Pancreatic Cancer

THURSDAY, March 14, 2019 (HealthDay News) -- 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 sta...

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

TUESDAY, Feb. 19, 2019 (HealthDay News) -- 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 insuranc...

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

WEDNESDAY, Jan. 23, 2019 (HealthDay News) -- 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 th...

Gene-Linked Iron Disorder More Common Than Thought

WEDNESDAY, Jan. 16, 2019 (HealthDay News) -- 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 t...

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

MONDAY, Jan. 14, 2019 (HealthDay News) -- 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 re...

Approach That New Gene Testing Kit With Caution

MONDAY, Dec. 17, 2018 (HealthDay News) -- 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...

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

THURSDAY, Dec. 6, 2018 (HealthDay News) -- 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 hi...

Smartphones, Summer Birth Could Raise Kids' Odds for Nearsightedness

TUESDAY, Nov. 6, 2018 (HealthDay News) -- 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 ob...

Type 1 Diabetes Often Misdiagnosed in Adults

TUESDAY, Oct. 9, 2018 (HealthDay News) -- 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...

Many Americans Curious, But Wary, About Gene Testing

TUESDAY, Oct. 2, 2018 (HealthDay News) -- 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 the...

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

WEDNESDAY, Sept. 26, 2018 (HealthDay News) -- 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 peopl...

Genetic Testing for Cancer Lacking for Women on Medicare: Study

FRIDAY, Aug. 17, 2018 (HealthDay News) -- 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 wi...

Research Links Long-Banned Insecticide DDT to Autism

THURSDAY, Aug. 16, 2018 (HealthDay News) -- 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 e...

Gene Test Predicts Risk of 5 Common Diseases

TUESDAY, Aug. 14, 2018 (HealthDay News) -- 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 ge...

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

THURSDAY, Aug. 9, 2018 (HealthDay News) -- 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 Ameri...

Frequent Skin Cancers May Signal Risk of Other Cancers, Too

THURSDAY, Aug. 9, 2018 (HealthDay News) -- 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.

Pa...

Study Urges Genetic Testing of Relatives of Aortic Disease Patients

TUESDAY, Aug. 7, 2018 (HealthDay News) -- 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 i...

AHA: Scientists May Have Cleared Gene Therapy Hurdle

TUESDAY, July 31, 2018 (American Heart Association) -- 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 t...

Scientists Spot Gene Linking Down Syndrome, Early Alzheimer's

MONDAY, July 2, 2018 (HealthDay News) -- British researchers are zeroing in on the genes that they believe are responsible for early onset Alzheimer's disease in people with Down syndrome.

The two conditions have long been strongly linked.

The findings -- based on research with mice -- could pave the way for new medicines to prevent Alzheimer's in people with Down syndrome, ...

The Cold Truth About Migraine Headaches

THURSDAY, May 3, 2018 (HealthDay News) -- Early humans' ability to adapt to cold climates may have been helped by a genetic variant that's common in modern people who live in colder regions -- and is linked with migraine headaches, researchers say.

Within the last 50,000 years, humans left Africa and colonized cold areas in Asia, Europe, and other parts of the world. And this coloniza...

French Bulldogs: Cute, But Health Issues Abound

THURSDAY, May 3, 2018 (HealthDay News) -- French Bulldogs can melt your heart with their wrinkled faces and big ears, but they come with a special set of health problems, a new report warns.

The breed is becoming the most popular in the United Kingdom, so researchers at the Royal Veterinary College analyzed data from more than 2,200 French Bulldogs that received care at more than 300 ...

Fetal Procedure Prevents Rare Condition That Leaves Kids Unable to Sweat

WEDNESDAY, April 25, 2018 (HealthDay News) -- Doctors say they've found a way to head off a rare birth defect that causes babies to be born without functioning sweat glands.

By introducing a specific protein into the womb, researchers prevented the defect from taking hold in three children.

This is the first and only therapy shown to prevent the birth defect, said lead resea...

New Hope Against Disease That Prematurely Ages Children

TUESDAY, April 24, 2018 (HealthDay News) -- In April 2011, at the age of just 10 months, Ohio native Carly Kudzia was diagnosed with the rare and fatal premature aging disease known as progeria.

"There was an average life span quoted to me that I shall not repeat," said Carly's mom, Heather Unsinger. "No parent should have to hear those words, nor read them."

Affecting just ...

Gene Therapy May Be Cure for Some With Rare Blood Disorder

WEDNESDAY, April 18, 2018 (HealthDay News) -- Wanda Sihanath didn't like the fact that her inherited blood disorder would not allow her to travel far from Chicago to attend college, but what could she do?

Without regular transfusions and blood testing, the beta-thalassemia she inherited from her parents could eventually cause her to become dangerously anemic.

"I wasn't happy...

Busting Myths Surrounding Cancer and Genetic Testing

FRIDAY, April 13, 2018 (HealthDay News) -- While only 5 percent to 10 percent of cancers are caused by an inherited gene mutation, genetic testing may benefit people with a strong history of family cancer, an expert in genetics suggests.

This is especially true in families with a history of breast, ovarian, prostate or pancreatic cancers (especially if you are of Ashkenazi Jewish des...

Sugar-Craving Gene Helps Lower Body Fat, But Has Downside

TUESDAY, April 10, 2018 (HealthDay News) -- A common version of a gene that makes you eat more sugar also plays a role in reducing body fat, surprised researchers report.

"This goes against the current perception that eating sugar is bad for health," said study first author Timothy Frayling.

The gene may reduce body fat because the same "A" version of the FGF21 gene also res...

Here's Another Reason  to Not Marry Your Cousin

WEDNESDAY, April 4, 2018 (HealthDay News) -- Children born to parents who are cousins have a significant risk for developing a mood disorder -- such as depression or anxiety -- when they grow up, a new study suggests.

For adults whose parents are first-cousins, the risk is triple that of people whose parents are unrelated, the researchers reported. And, mood disorder risk is also sign...

Genetic Testing Underused in Breast Cancer Patients: Study

TUESDAY, March 13, 2018 (HealthDay News) -- Nearly half of newly diagnosed breast cancer patients who should have genetic testing don't receive it, a new study finds.

Genetic testing can play an important part in deciding the best course of treatment, the University of Michigan researchers noted.

The study included just over 1,700 women with early stage breast cancer who cou...

Genetic Heart Defects Rarely the Cause of SIDS, Research Shows

MONDAY, March 12, 2018 (HealthDay News) -- Heart diseases linked to genetic flaws cause far fewer sudden infant death syndrome (SIDS) cases than once thought, a new study finds.

In a genetic investigation of 419 SIDS cases, Mayo Clinic researchers found that genetic mutations associated with heart disease accounted for about 5 percent.

Previous studies have suggested that su...

Dad Can Pass on Ovarian Cancer Genes, Too

FRIDAY, Feb. 16, 2018 (HealthDay News) -- A gene mutation that's passed down from a father is associated with earlier onset of ovarian cancer in daughters and prostate cancer in the father and his sons, a new study suggests.

Previous research had shown that sisters of women with ovarian cancer have a higher risk for the disease than their mother, but the reasons for this were unclear....

Creating Your Family Health Tree

THURSDAY, Dec. 7, 2017 (HealthDay News) -- A family health history can be key to your wellness.

Think of it as a family tree all about your health -- a record of your close relatives' medical conditions, lifestyle habits and even where they grew up.

A family health history helps you see any increased risk of developing serious health problems, like heart disease, cancer and ...

Gene Therapy May Allow Hemophilia Patients to Go Without Meds

WEDNESDAY, Dec. 6, 2017 (HealthDay News) -- Gene therapy has helped 10 men with a form of the bleeding disorder hemophilia produce a critical blood clotting factor. This could eliminate the need for tedious and costly standard treatments, researchers report.

While saying the one-time gene therapy was an ideal treatment goal because of its effects, the researchers stopped short of cal...

Gene Therapy, New Drug Battle a Rare But Deadly Disease in Kids

WEDNESDAY, Nov. 1, 2017 (HealthDay News) -- Babies born with a previously untreatable degenerative nerve disease now have two fresh sources of hope for their future.

Two innovative new therapies for spinal muscular atrophy (SMA) type 1 have proven highly effective in clinical trials, researchers report.

Babies with SMA are born without the gene that promotes production of su...