Polymiositis Sucks. It feels like there’s acid running through my veins whenever I try to do a simple movement like going up the stairs
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#OurSky #polymiositis #geneticdisorder
#muscledisorder #exercise

Phenylketonuria (PKU)
#Phenylketonuria #PKU #MetabolicDisorder #AutosomalRecessive #GeneticDisorder #iPrkashMishra #NewbornScreening #GuthrieTest #Hyperphenylalaninemia #PediatricHealth #LowProteinDiet #Sapropterin #MaternalPKU #MedicalEducation #NursingNotes

Cystic Fibrosis (CF): Symptoms, Sweat Chloride Test, CFTR Gene & Management
#Medical #Medicine #Nursing #Nurse #CysticFibrosis #CF #Pulmonology #iPrkashMishra #Pediatrics #GeneticDisorder #MedSchool #NursingStudent #Healthcare #ClinicalMedicine #MedEducation #DoctorLife

Tips for talking to your child about FA: https://bit.ly/474QkgT  #FriedreichsAtaxiaNews #FriedreichsAtaxiaCommunity #GeneticDisorder #BioNews

Tips for talking to your child about FA: https://bit.ly/474QkgT  #FriedreichsAtaxiaNews #FriedreichsAtaxiaCommunity #GeneticDisorder #BioNews

Boy with Rare Genetic Disorder Amazes Doctors After World-First Gene Therapy The first child in history has successfully been treated with a new genetic therapy for an ultra-rare developmental defect called Hunter syndrome. Several years in the making, Oliver Chu became the first in the world to receive the stem cell-based treatment in February, and 3 months later seemed to be a normal child again, meeting […] The post Boy with Rare Genetic Disorder Amazes Doctors After World-First Gene Therapy appeared first on Good News Network.

Boy with Rare Genetic Disorder Amazes Doctors After World-First Gene Therapy: The first child in history has successfully been treated with a new genetic therapy for an ultra-rare developmental… @goodnewsnetwork.org #GeneticDisorder #GeneTherapy #HunterSyndrome #MedicalBreakthrough #RareDisease

Boy with Rare Genetic Disorder Amazes Doctors After World-First Gene Therapy The first child in history has successfully been treated with a new genetic therapy for an ultra-rare developmental defect called Hunter syndrome. Several years in the making, Oliver Chu became the fi...

#Boy with Rare #GeneticDisorder Amazes #Doctors After World-First #GeneTherapy

www.goodnewsnetwork.org/boy-with-rar...

[Part 2] Understanding Ehlers-Danlos Syndrome: A Personal Exploration by www.tiktok.com/t/ZP8DpBBMQ/

#EhlersDanlosSyndrome #EDS #ChronicIllness #WomensHealth #GeneticDisorder #MedicalAwareness

[Part 1] Understanding Ehlers-Danlos Syndrome: A Personal Exploration by www.tiktok.com/t/ZP8DpBBMQ/

#EhlersDanlosSyndrome #EDS #ChronicIllness #WomensHealth #GeneticDisorder #MedicalAwareness

Yes, you can be intolerant to fruit and veg | The-14 Some people have hereditary fructose intolerance, a rare genetic condition making fruit, vegetables, and certain sugars harmful to their health.

Yes, you can be intolerant to fruit and veg
#Health #Nutrition #Fructose #Sucrose #FoodIntolerance #Sorbitol #GeneticDisorder #FruitAndVeg #Hereditary #DigestiveHealth #RareDiseases #GeneticDisease
#HereditaryFructoseIntolerance #Fruit
#The14
the-14.com/yes-you-can-...

#NORDSummit: Lee Greenwood, whose 5-year-old daughter Noa was born with #CanavanDisease, a severe #GeneticDisorder found mainly among Ashkenazi Jews. In June 2022, the girl received lifesaving #GeneTherapy and is now developing normally.
@nordrare.bsky.social

#RareDisease #RareSky #MedSky

A light gray background with red decorative elements and scattered red and blue circles representing blood cells. On the left is a red awareness ribbon with a black outline. The top right displays "September is Sickle Cell Awareness Month" in dark text. Below is an informational paragraph in black text explaining: "Sickle cell anemia is a genetic blood disorder where red blood cells are abnormally shaped (sickle or crescent-shaped) instead of the normal disc shape. These sickle cells can block blood flow in small vessels, causing pain, organ damage, and other complications. It's a lifelong condition with varying severity." At the bottom left is the red Rutgers University "R" logo followed by "RUTGERS-NEW BRUNSWICK Office of Disability Services" in black text.

#RutgersInclusion #SeptemberAwareness #SickleCellAwareness #SickleCellAwarenessMonth #SickleCellDisease #SickleCellAnemia #September #HealthAwareness #Disability #DisabilityAwareness #ChronicIllness #RareDisease #BloodDisorder #GeneticDisorder #SickleCellWarrior

Tips for talking to your child about FA: https://bit.ly/474QkgT  #FriedreichsAtaxiaNews #FriedreichsAtaxiaCommunity #GeneticDisorder #BioNews

US FDA approves Ionis’ drug for rare genetic disorder By Sneha S K and Bageshri Banerjee (Reuters) -The U.S. Food and Drug Administration on Thursday approved Ionis Pharmaceuticals (NASDAQ:IONS)’ drug to prevent instances of severe swelling in various parts of the body of patients with a rare genetic disorder. Shares of the company were up 1.1% in afternoon trading. The drug, Dawnzera, is approved as a so-called "prophylaxis" to prevent symptoms of a rare genetic disease called hereditary angioedema (HAE) in adults and pediatric patients 12 years of age and older. The condition causes frequent attacks of severe swelling in various parts of the body, including the hands, feet, genitals and face. Dawnzera will be available in the United States in the coming days with a list price of $57,462 per dose, the company said. HAE is estimated to affect about 7,000 patients in the U.S., according to Ionis. The drug, chemically known as donidalorsen, prevents HAE attacks by lowering levels of a protein called prekallikrein (PKK) that drives swelling and inflammation. Dawnzera can be self-administered through an under-the-skin injection once every four or eight weeks. The approval was supported by late-stage study results that showed the drug, dosed once every four weeks, reduced monthly attacks by 81% compared to a placebo over 24 weeks. Current FDA-approved therapies for HAE fall into two groups: prophylaxis to prevent attacks and on-demand medicines to treat acute attacks. Other approved prophylactic drugs include Takhzyro, developed by Japan’s Takeda Pharmaceutical and Haegarda from CSL (OTC:CSLLY) Behring. There is a lot of excitement for donidalorsen as patients who are not doing well on existing therapies have an option to switch to Dawnzera, which has a higher efficacy, TD Cowen analyst Yaron Werber said ahead of the approval. Takhzyro, given every two weeks, showed an average of 87% fewer attacks compared to a placebo over 6.5 months in a separate study involving adult and adolescent patients. Werber estimates peak annual sales of Ionis’ drug to be $509 million by 2032. ProPicks AI analyzes thousands of stocks using 100+ institutional-grade financial metrics to identify the strongest opportunities. With 80+ strategies across global markets, you might be surprised where IONS appears. Our flagship Tech Titans strategy doubled the S&P 500 within 18 months, including notable winners like Super Micro Computer (+185%) and AppLovin (+157%). Each strategy refreshes monthly with 10-20 high-conviction picks. Even if IONS isn't currently featured, you'll discover similar opportunities in the same industry or theme—stocks the AI identifies before they breakout. Now up to 50% off while our Summer Sale lasts.

Click Subscribe #FDAApproval #IonisPharmaceuticals #RareDiseases #GeneticDisorder #HealthNews

US FDA declines to approve PTC Therapeutics’ oral drug for rare genetic disorder By Puyaan Singh and Kamal Choudhury (Reuters) -The U.S. Food and Drug Administration has denied approval for PTC Therapeutics (NASDAQ:PTCT)’ oral medication for a rare genetic disorder with limited treatment options, the company said on Tuesday. In its so-called Complete Response Letter, the FDA said the data did not provide substantial efficacy evidence for the drug, vatiquinone, in treating Friedreich’s ataxia and that a separate study was needed before resubmitting the application. At least three analysts said the regulator’s rejection was not surprising and that expectations had been low heading into the decision. PTC (NASDAQ:PTC)’s shares reversed premarket losses to rise more than 8% in morning trading. The FDA approved Sephience - PTC’s oral therapy for a rare metabolic disorder called phenylketonuria - last month, potentially countering revenue declines due to regulatory scrutiny and competition from cheaper rivals for its top-selling muscular disorder therapies, Translarna and Emflaza. "We see today’s CRL as a clearing event since investors can now turn their focus to the Sephience launch," J.P.Morgan analysts said in a client note. The company said it planned to meet with FDA officials to discuss potential next steps. "We are of course disappointed by the FDA’s decision to not approve vatiquinone," CEO Matthew Klein said, adding that the data till date demonstrated that the drug could be safe and effective for children and adults living with the disorder. Friedreich’s ataxia is a rare genetic disorder that causes progressive damage to the nervous system, often leading to difficulty in walking, speech problems and heart complications. The disease tends to develop in children and teenagers and gradually worsens over time. Currently, Biogen (NASDAQ:BIIB)’s Skyclarys remains the only FDA-approved treatment for Friedreich’s ataxia. Don't miss out on the next big opportunity! Stay ahead of the curve with ProPicks AI – 6 model portfolios fueled by AI stock picks with a stellar performance this year... In 2024 alone, ProPicks AI identified 2 stocks that surged over 150%, 4 additional stocks that leaped over 30%, and 3 more that climbed over 25%. That's an impressive track record. With portfolios tailored for Dow stocks, S&P stocks, Tech Stocks, and Mid Cap stocks, you can explore various wealth-building strategies. So if BIIB is on your watchlist, it could be very wise to know whether or not it made the ProPicks AI lists.

Click Subscribe #FDA #PTCTherapeutics #DrugApproval #GeneticDisorder #RareDiseases

Our movement challenge is returning..."Stronger September" and it will be funding a very special project! Stay tuned for more details!! #LCCMovementChallenge #CureLCC #StrongerSeptember #GeneticDisorder #SNORD118 #RareDisease

What is Cystic Fibrosis? The disease that turns every breath into a fight 💔💨

Subscribe to read more on www.pouringpotions.com

#CysticFibrosis #CFawareness #RareDisease #InvisibleIllness #GeneticDisorder #CFstrong #LungHealth #ChronicIllnessAwareness

Only on News 19: Family shares experience with daughter's rare genetic disorder As a parent, you only want what's best for your child, but when things don't go as planned, it can be defeating. That's the case for a family from Madison and their daughter, who's living with an extremely rare genetic disorder.

WHNT 19Alabama News Beacon #GeneticDisorder #RareDiseases #FamilySupport

Album cover for "If You Only Knew" by Little Jimmy Scott, featuring a young Jimmy Scott in a blue suit, white shirt, and tie, wearing glasses and standing in front of a vintage microphone with a yellow and red background.

Today on the #Disability Daily #Podcast we celebrate legendary #jazz #singer with #Kallmann syndrome, Jimmy Scott!

Listen & read transcript

#Accessibility #a11y #DisabilityPride #KallmannSyndrome #GeneticDisorder #soul #music #BlackSky #MusicSky #TwinPeaks #Contralto #Cleveland #JimmyScott #voice

Fatal genetic disorder treated by replacing the brain's immune cells Microglia replacement therapy helps treat people with a rare genetic condition called ALSP, suggesting the approach could also work for other neurological disorders like Alzheimer’s

Fatal genetic disorder treated by replacing the brain's immune cells #Science #HealthandMedicine #GeneticsandGenomics #GeneticDisorder #Neuroscience #Immunology

🧬 Born With Zero Immunity

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#SCID #SevereCombinedImmunodeficiency #BubbleBoy #NoImmunity #GeneticDisorder #RareDisease #PediatricHealth #BoneMarrowTransplant #GeneTherapy #ImmuneDeficiency #MedicalAwareness #ChildHealthMatters

Navigating Hearing Loss & EDS: The Unexpected Journey of Lip-Reading, Music, and Adaptation Hearing loss is often imagined as a sudden, dramatic event—one day you hear, the next you don’t. But for many of us, it’s a slow, creeping change, a background process we don’t fully grasp until…

"What I didn't initially connect was how my #HearingLoss might relate to another unwelcome guest in my life—#EhlersDanlosSyndrome ( #EDS)..this delightful #GeneticDisorder, known for messing with joints, connective tissues..can also impact #hearing.": buff.ly/sEwfeFt

by @unremarkableme.bsky.social

EMR Fingerprint On 'Predicting genetic epilepsies through EMR fingerprints'

EMR Fingerprint
#epilepsy #research #rare #geneticdisorder

🎧 “Deaf at birth… blind by adulthood: his world is closing in.”

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#UsherSyndrome #DeafBlindness #ChicagoMed #RetinitisPigmentosa #CochlearImplant #GeneticDisorder #MedicalAwareness #RareDisease #Audiology #Ophthalmology

In this emotional scene from Scrubs, a doctor explains to a man that his mother’s diagnosis of Huntington’s Disease (HD) means he could have inherited it too.

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#HuntingtonsDisease #MedicalEducation #ScrubsTV #GeneticDisorder

Diagnostic dilemma: A rare genetic disease stained a woman's heart black An older woman had a relatively common heart problem, but it had a very rare cause.

Diagnostic dilemma: A rare genetic disease stained a woman's heart black #Science #HealthandMedicine #Genetics #GeneticDisorder #HealthNews #RareDiseases

Infant With Incurable Disease is First to Successfully Receive Personalized Gene Therapy Treatment In a historic medical breakthrough, a child diagnosed with a rare genetic disorder has been successfully treated with a customized CRISPR gene editing therapy by a team at Children’s Hospital of Philadelphia and Penn Medicine. The infant, KJ, was born with a rare metabolic disease known as severe carbamoyl phosphate synthetase deficiency (CPS1). After spending […] The post Infant With Incurable Disease is First to Successfully Receive Personalized Gene Therapy Treatment appeared first on Good News Network.

Infant With Incurable Disease is First to Successfully Receive Personalized Gene Therapy Treatment: In a historic medical breakthrough, a child diagnosed with a rare genetic disorder has been successfully… @goodnewsnetwork.org #GeneTherapy #CRISPR #MedicalBreakthrough #GeneticDisorder #ChildHealth

2/11 The 9½-month-old boy was born with CPS1 deficiency, affecting just one in 1.3 million babies. This rare disorder prevents his body from ridding itself of ammonia, causing toxin buildup that risks severe brain injury or death.
#RareDisease #GeneticDisorder

Are you the first in your family diagnosed with haemochromatosis?

Just one gene from each parent is enough to inherit it — even if they don’t have it.

🔗 ha.org.au/haemochromatosis/#ha-genetics

#Haemochromatosis #IronOverload #GeneticDisorder #KnowYourGenes #HealthAwareness