Recursos del Paciente
Manténgase sano!
Resultados de su búsqueda "Genetic Disorders".
Resultados de noticias de salud - 27
Remains Show Prehistoric Peoples Cared for Those With Down Syndrome
- Dennis Thompson HealthDay Reporter
- February 21, 2024
- Página completa
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 ...
Bats Don't Get Cancer, and Scientists Are Closer to Understanding Why
- Dennis Thompson HealthDay Reporter
- September 20, 2023
- Página completa
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 jour...
Testing Entire Genome Twice as Good at Spotting Genetic Disorders as Targeted Tests Are
- Cara Murez HealthDay Reporter
- July 11, 2023
- Página completa
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. Th...
Disease That Permanently Bends Fingers Could Have Origins in Neanderthal Genes
- Dennis Thompson HealthDay Reporter
- June 14, 2023
- Página completa
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 Dupuytr...
Exercise No Threat to People With an Inherited Form of Enlarged Heart
- Cara Murez HealthDay Reporter
- May 19, 2023
- Página completa
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 thicke...
Should All U.S. Newborns Undergo Genomic Testing?
- Cara Murez HealthDay Reporter
- May 9, 2023
- Página completa
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.
Testi...
Research Reveals Cause of Deadly Disease Affecting Native American Kids
- Cara Murez HealthDay Reporter
- April 20, 2023
- Página completa
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.
...
New Drug May Treat Rare Diseases That Make Exposure to Sunlight Painful
- Amy Norton HealthDay Reporter
- April 13, 2023
- Página completa
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 ...
Just 2 Kids Worldwide Are Known to Have This Rare Genetic Disease. Their Parents United for a Cure
- Denise Mann HealthDay Reporter
- March 16, 2023
- Página completa
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 development...
Most College Athletes With Genetic Heart Trouble Can Safely Play Sports: Study
- Cara Murez HealthDay Reporter
- March 7, 2023
- Página completa
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-trigge...
New Hope Against 'Incurable' Liver Disease That Kills Children
- Cara Murez HealthDay Reporter
- January 6, 2023
- Página completa
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...
Gene Therapy Used for First Time to Correct Fatal Illness Before Birth
- Cara Murez HealthDay Reporter
- November 10, 2022
- Página completa
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.
Hints That Experimental Drug Might Curb a Form of ALS
- By Cara Murez HealthDay Reporter
- September 23, 2022
- Página completa
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
Major Gene Study Spots DNA Tied to Autism, Other Disorders
- By Dennis Thompson HealthDay Reporter
- August 19, 2022
- Página completa
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 ...
Science Brings Shortcut to Spotting 50 Rare Genetic Diseases
- March 10, 2022
- Página completa
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-expans...
Early Trial Offers Hope Treating Rare 'Brittle Bone' Disease
- February 21, 2022
- Página completa
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....
Did Your Gene Screen Turn Up Dangerous DNA? Study Finds Real Risk Is Low
- Amy Norton HealthDay Reporter
- January 27, 2022
- Página completa
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.
New Clues to Sudden Unexplained Deaths in Young Kids
- Amy Norton HealthDay Reporter
- December 28, 2021
- Página completa
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 eventua...
Highly Inbred, French Bulldogs Face Higher Odds for 20 Health Issues
- Dennis Thompson HealthDay Reporter
- December 20, 2021
- Página completa
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...
Could Gene Therapy Help Cure Sickle Cell Disease?
- Dennis Thompson HealthDay Reporter
- December 13, 2021
- Página completa
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, ...
More Time Outdoors May Lower Risk of MS in Youth
- Steven Reinberg HealthDay Reporter
- December 9, 2021
- Página completa
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 develop...
Gene Therapy May Reverse Hurler Syndrome, a Rare and Severe Illness in Kids
- Amy Norton HealthDay Reporter
- November 18, 2021
- Página completa
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 ...
Blood Test Looks at Patients' Whole Genome to Spot Rare Inherited Diseases
- Robert Preidt
- November 8, 2021
- Página completa
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...
Why Are Cases of Pancreatic Cancer Rising in Young Women?
- Cara Murez HealthDay Reporter
- October 25, 2021
- Página completa
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...
Ten Years On, Gene Therapy Still Beating Most Cases of 'Bubble Boy' Immune Disease
- Robert Preidt
- October 21, 2021
- Página completa
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...
Child Cancers Are Rare, But Here Are Signs to Look For
- September 11, 2021
- Página completa
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....
Insights Into Genes Driving Epilepsy Could Help With Treatment
- September 6, 2021
- Página completa
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 epile...