#RareDisorders

2 weeks ago

‘It Feels Like I’m Possessed’: Woman Speaks Out on Rare Disorder Causing Constant, Unwanted Arousal A 22-year-old woman living with a rare and often misunderstood medical condition is drawing attention to the daily reality of Persistent Genital… The post ‘It Feels Like I’m Possessed’: Woman Speaks Out on Rare Disorder Causing Constant, Unwanted Arousal appeared first on Shine My Crown.

‘It Feels Like I’m Possessed’: Woman Speaks Out on Rare Disorder Causing Constant, Unwanted Arousal: A 22-year-old woman living with a rare and often misunderstood medical condition is drawing attention to the daily reality of… #PGAD #HealthAwareness #RareDisorders #WomensHealth #MentalHealth

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@allsupssdi.bsky.social

2 weeks ago

Recently released: “Allsup Shares Key SSDI Eligibility Considerations For Rare Disorders.”

Learn how the SSA evaluates rare conditions and what medical evidence matters most for SSDI claims.

Read more: bit.ly/4u5fK6W

#RareDisorders #DisabilityEligibility #SSDI #ApplyForSSDI #AllsupSSDI

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shubh

@shubham83.bsky.social

2 months ago

허를러 증후군 치료 시장 규모, 성장 보고서 2035 허를러 증후군 치료 시장의 성장은 2025년부터 2035년까지 산업 규모, 점유율, 주요 기업 분석, 세분화 연구, 트렌드 및 예측 보고서를 통해 7.32%의 CAGR로 18억 5천만 달러에 이를 것으로 예상됩니다.

📊 Global Hurler Syndrome Treatment Market outlook shows promising growth opportunities. Learn more 👉 www.marketresearchfuture.com/ko/reports/h...
#MarketTrends #RareDisorders

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Friedreich’s Ataxia News

@fanews.bsky.social

2 months ago

Learn about late-onset FA: https://bit.ly/4fGP6KV #FriedreichsAtaxiaNews #LateOnsetFA #RareDisorders #BioNews

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André Picard @picardonhealth

@picardonhealth.bsky.social

2 months ago

Scientists are inventing treatments for devastating diseases. There’s just one problem. Gene therapy treatments for rare diseases are being developed, but getting them out of the lab has proved challenging.

Scientists are inventing treatments for devastating diseases. There’s just one problem. Genetic therapies could be used to treat hundreds of diseases. The path to patients is tricky, by @carolynyjohnson.bsky.social www.washingtonpost.com/health/2026/... via @washingtonpost.com #RareDisorders

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Friedreich’s Ataxia News

@fanews.bsky.social

4 months ago

Learn about late-onset FA: https://bit.ly/4fGP6KV #FriedreichsAtaxiaNews #LateOnsetFA #RareDisorders #BioNews

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Nettie Jo 👩🏻‍🏫

@nightmajk.bsky.social

4 months ago

25-Year-Old Will End Her Life with Medical Aid in Dying After Years of ‘Debilitating’ Illness: 'Please Let Me Go' — People After spending the majority of her life in the hospital, Annaliese Holland is now preparing to end her life “on my own terms”

Her body, her choice. 🫶🏼

#assistedsuicide #Australia #raredisorders #bodilyautonomy #AnnalieseHolland #chronicillness #motilitydisorders #digestion #dysautonomia #chronicpain

apple.news/AuOKXWgLwTbu...

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Dosh Whye

@sciwhye23.bsky.social

6 months ago

Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy resulting from variants in cyclin-dependent kinase-like 5 (CDKL5)…

Thrilled to share our latest #research efforts on #CDKL5 deficiency and #stemcell #diseasemodeling. This critical work took a tremendous team effort! #autism #epilepsy #intellectualdisability #raredisorders

@sahinm.bsky.social

@delaneywood.bsky.social

www.sciencedirect.com/science/arti...

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@healthdivine.bsky.social

6 months ago

Acro Pectoro Renal Field Defect Market Growth Report 2034 Acro Pectoro Renal Field Defect Market growth is projected to reach USD 6.42 Billion, at a 5.33% CAGR by driving industry, top company analysis, segments research, trends and forecast report 2025 to ...

🧬 Unlocking mysteries of genetic syndromes! Cutting-edge solutions for acro-pectoro-renal field defect bring hope for patients worldwide. 🌍
#Genetics #RareDisorders #MedicalResearch

www.marketresearchfuture.com/reports/acro...

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André Picard @picardonhealth

@picardonhealth.bsky.social

8 months ago

Opinion: Is denying a drug to a terminally ill 10-year-old cruel – or is it good governance? The case of Charleigh Pollock in B.C. shows that politics should have no place in difficult and complex medical decisions

When funding for a $1-million a year drug is discontinued after six years is that bureaucratic cruelty, or good public policy? The heart-wrenching case of 10-year-old Charleigh Pollock, by @picardonhealth.bsky.social www.theglobeandmail.com/opinion/arti... via @theglobeandmail.com #RareDisorders

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Pouring Potions

@pouringpotions.bsky.social

8 months ago

She Wasn’t Just Blushing—Her Body Was Spiraling Out of Control

Subscribe to read more on www.pouringpotions.com

#Erythrophobia #Hyperpyrexia #RareDisorders #MedicalReels #MindBodyConnection #PsychosomaticSymptoms #FlushingDisorder #AutonomicDysfunction #SomaticAnxiety

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Pouring Potions

@pouringpotions.bsky.social

9 months ago

🧠 “Why would someone want to be paralyzed?”

Subscribe to read more on www.pouringpotions.com

#BodyIntegrityIdentityDisorder #BIID #MedicalEthics #MentalHealthAwareness #RareDisorders #ChicagoMed #MedicalReel #PsychologyFacts #DoctorDilemmas #InformedConsent

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André Picard @picardonhealth

@picardonhealth.bsky.social

9 months ago

B.C. pulls funding on $1M drug for 9-year-old Vancouver Island girl with rare condition | CBC News The B.C. government said Wednesday it will be pulling funding for an extremely expensive drug used by one person in the province — a young Vancouver Island girl.

B.C. pulls funding on $1M drug for 9-year-old Vancouver Island girl with rare condition CLN2. Minister says decision made because drug Brineura no longer works, not because of cost, by @courtneydickson.bsky.social www.cbc.ca/news/canada/... via @cbcnews.ca #RareDisorders

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Profit Trading USA

@profittradingusa.bsky.social

10 months ago

Stealth Bio to cut jobs after FDA rejects therapy for rare disorder (Reuters) -Privately held Stealth BioTherapeutics said on Thursday the U.S. Food and Drug Administration had declined to approve its therapy for an ultra-rare condition called Barth Syndrome, prompting it to cut 30% of its workforce. Barth syndrome, which is estimated to affect around 150 people in the United States, has no approved treatments. It typically affects boys and causes heart and muscle weakness, as well as delayed growth. The FDA has asked the company to resubmit its application, which Stealth said would require more capital and prompted the job cuts. The FDA did not respond to a Reuters request for comment The therapy, elamipretide, has faced several setbacks, including the FDA’s refusal to accept its marketing application in 2021. The company subsequently went private in 2022. The latest setback comes after a 16.5-month review, during which the FDA extended its review from January to April to assess additional data. Last month, the regulator missed the extended deadline. The company said the rejection came "out of the blue". "We don’t understand why it wasn’t an approval, because there isn’t really a request that we resubmit new data," said CEO Reenie McCarthy. "I think our frustration is: why didn’t this come sooner?" McCarthy said. In October, a panel of advisers to the FDA voted 10-6 in favor of the therapy. Stealth had submitted data from a mid-stage trial that showed improvement in knee muscle strength by over 45%, which correlated with improvements on the six-minute walk test. FDA raised the possibility of an accelerated approval based on the findings, but is hesitant to extend the pathway to critically ill newborns, who make up nearly two-thirds of the therapy’s expanded access program participants. The company said it will meet with the FDA next month.

Click Subscribe #StealthBio #FDA #JobCuts #TherapyRejection #RareDisorders

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André Picard @picardonhealth

@picardonhealth.bsky.social

10 months ago

Opinion | Gene Editing: The Lessons of a Medical Breakthrough

Gene Editing: The Lessons of a Medical Breakthrough www.nytimes.com/2025/05/28/o... via @nytopinion.nytimes.com #RareDisorders #genomics

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André Picard @picardonhealth

@picardonhealth.bsky.social

10 months ago

Blood test developed that could speed up diagnosis of rare diseases in babies Scientists say new approach means effects of many genetic mutations can be analysed at once and yield results in days

A new blood-based test that could help speed up diagnoses for children born with rare genetic disorders has been developed by researchers in an effort to provide answers – and treatments – sooner, by ‪@nicolaksdavis.bsky.social www.theguardian.com/science/2025... via @theguardian.com #RareDisorders

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André Picard @picardonhealth

@picardonhealth.bsky.social

10 months ago

A Spanish therapy saves the lives of ‘the unluckiest family in the world’ Three American siblings and six other children born with a rare, life-threatening disease are returning to normal life thanks to a genetic treatment developed in Madrid

Gene therapy saves lives of 9 children, including 3 siblings, born with rare condition #LAD-1, which causes children to suffer extremely painful bacterial infections. Most die by age 3, by @manuelansede.bsky.social english.elpais.com/science-tech... via @elpaisamerica.bsky.social #RareDisorders

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André Picard @picardonhealth

@picardonhealth.bsky.social

11 months ago

My Son Has a Rare Syndrome. So I Turned to the Internet. Social media became a place of both solace and torment. How much was mine to share?

My Son Has a Rare Disorder. The Internet Consoled and Tormented Me. For the mother of a child with an overgrowth disorder, social media became a place of both solace and shame. How much was hers to share? by @amandahess.bsky.social www.nytimes.com/2025/04/22/m... via @nytimes.com #RareDisorders

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Suja Somanadhan

@sujas.bsky.social

11 months ago

Please share this with others who may be eligible — every story matters. #RareDisorders #Rarediseases @rarediseasesint.bsky.social @hrci.bsky.social @rareireland.bsky.social

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André Picard @picardonhealth

@picardonhealth.bsky.social

1 year ago

Drugs Have Uses We Can’t Imagine. He’s Using A.I. to Find Them. Scientists are using machine learning to find new treatments among thousands of old medicines.

Doctors Told Him He Was Going to Die From A Rare Blood Disorder Called POEMS Syndrome. Then #AI Saved His Life. Scientists are using machine learning to find new treatments among thousands of old medicines, by Kate Morgan www.nytimes.com/2025/03/20/w... via @nytimes.com #RareDisorders

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Official Manchester Rare Conditions Centre account.

@mft-imrare.bsky.social

1 year ago

On 15th June, Sarah Wynn & Unique hosted a heartwarming event for families affected by rare chromosome/gene disorders. Magic, crafts, & conversations created joy & connection. Thanks to all! Learn more about the amazing work Unique here: rarechromo.org #Community #RareDisorders #rarediseaseday2025

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Unique

@uniquecharity.bsky.social

1 year ago

📢 We're Hiring – Engagement & Communications Officer! 🌟

To apply and find out more click here: bit.ly/Uniquejob

Join us in making a difference!

#Hiring #CommunicationsOfficer #CharityJobs #RareDisorders

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VSC | Vlaams Supercomputer Centrum

@vschpc.bsky.social

1 year ago

Nieuwe test moet zoektocht naar diagnose bij zeldzame ontwikkelingsstoornissen versnellen

🧬🔍 VSC in the Media!
UZ Leuven develops a test to diagnose rare developmental disorders, powered by VSC supercomputers! 🚀 Faster, smarter diagnostics with HPC.
Read more via VRT NWS: www.vrt.be/vrtnws/nl/20...

#HPC #Innovation #RareDisorders #Supercomputing #data

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André Picard @picardonhealth

@picardonhealth.bsky.social

1 year ago

He diagnosed his rare disease using Google. Now he hopes AI can do the same for others | CBC Radio Ian Stedman champions using artificial intelligence to diagnose more people with rare diseases after it took him 32 years and extraordinary effort to pinpoint his own rare disease. Now eastern Ontario's children's hospital is doing just that.

He diagnosed his rare disease using Google. Now he hopes artificial intelligence can do the same for others. CHEO using #AI to help diagnose #RareDisorders. www.cbc.ca/radio/whitec... via @casinoshiftmd.bsky.social

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Jorge Oller Pedrosa PhD. 🫀🪸🐭🔬🧫🧑‍🧑‍🧒‍🧒🏳️‍🌈

@jorgeoller.bsky.social

1 year ago

❤️"NO TE OLVIDES DE MÍ, NO TE OLVIDES DEL SÍNDROME DE MARFAN"❤️

✨3 de Diciembre, Día Europeo del Síndrome de Marfan, #Marfan #aneurysm #raredisorders #science

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Unique

@uniquecharity.bsky.social

1 year ago

🌍✨ International Day of Persons with Disabilities ✨🌍

IDPWD is a day to celebrate the achievements and contributions of persons with disabilities as well as increase public awareness, understanding and acceptance.

#IDPD #InclusionMatters #DisabilityAwareness #RareDisorders

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IntuitiveCounsellor

@intuitivelyme.bsky.social

1 year ago

Teenage girl in purple & cream coloured 1940s inspired silly dress walking on wet asphalt with greenery in background. Girl is waving with a tentative smile. Girl has complex medical conditions & disability, but is extremely capable, loving and beautiful

#disABILITY my daughter had her year 12 formal last night - it’s been a long slog to get to this point - lots of peaks & valleys. She shone bright - and we were immensely proud of her #SpecialNeeds #RareDisabilities #RareDisorders #PrideJoyGratitude

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Shane McKee

@shaneir.bsky.social

1 year ago

Ride For Rare - GiveWheel

Hellooooo #BlueSky! On 15 September, all across the UK & Ireland, we are getting on our bikes for the #Ride4Rare cycle for #RareDisorders! This will raise money to help patients and families - your support is really welcome: www.givewheel.com/fundraising/...

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