#raredisease — Public Fediverse posts

https://www.europesays.com/ch/104626/ Novartis (SWX:NOVN) Wins Full FDA Nod For Fabhalta And Wider EU Itvisma Use #AcceleratedApproval #FDAApproval #GeneTherapy #IgANephropathy #InvestmentDecisions #KidneyDisease #KidneyFunction #Novartis #RareDisease #RegulatoryDecisions #SpinalMuscularAtrophy

Novartis (SWX:NOVN) Wins Full FDA Nod For Fabhalta And Wider EU Itvisma Use

Make better investment decisions with Simply Wall St’s easy, visual tools that give you a competitive edge. Novartis…
#Europe #EU #acceleratedapproval #EuropeanUnion #FDAapproval #genetherapy #IgAnephropathy #investmentdecisions #kidneydisease #kidneyfunction #Novartis #raredisease #regulatorydecisions #spinalmuscularatrophy
https://www.europesays.com/europe/96524/

Pipeline release! nf-core/raredisease v3.1.2 - 3.1.2 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.2

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v3.1.2 - 3.1.2 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.2

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Now is your best chance to find my *entire* ebook collection FREE or 50% off @Smashwords!

You can find all my books at https://www.smashwords.com/profile/view/PaulineO%27Connor

#SWSale2026 #Smashwords #PKU #LivingWithPKU #RedHatStories #RareDisease #LowProtein

Now is your best chance to find my *entire* ebook collection FREE or 50% off @Smashwords!

You can find all my books at https://www.smashwords.com/profile/view/PaulineO%27Connor

#SWSale2026 #Smashwords #PKU #LivingWithPKU #RedHatStories #RareDisease #LowProtein

Now is your best chance to find my *entire* ebook collection FREE or 50% off @Smashwords!

You can find all my books at https://www.smashwords.com/profile/view/PaulineO%27Connor

#SWSale2026 #Smashwords #PKU #LivingWithPKU #RedHatStories #RareDisease #LowProtein

Now is your best chance to find my *entire* ebook collection FREE or 50% off @Smashwords!

You can find all my books at https://www.smashwords.com/profile/view/PaulineO%27Connor

#SWSale2026 #Smashwords #PKU #LivingWithPKU #RedHatStories #RareDisease #LowProtein

Now is your best chance to find my *entire* ebook collection FREE or 50% off @Smashwords!

You can find all my books at https://www.smashwords.com/profile/view/PaulineO%27Connor

#SWSale2026 #Smashwords #PKU #LivingWithPKU #RedHatStories #RareDisease #LowProtein

Top researcher appointed inaugural Dr Patricia Kailis Chair in Rare Diseases

Internationally recognised leader in rare neuromuscular disease research Professor Gina Ravenscroft has been appointed the inaugural Dr Patricia…
#NewsBeep #News #Science #AU #Australia #disease #DrPatriciaKailis #Genetic #ginaRavenscroft #MedicalResearch #Perkins #rarecancercentre #raredisease #StanPerronCharitableFoundation #uwa
https://www.newsbeep.com/au/767024/

Top researcher appointed inaugural Dr Patricia Kailis Chair in Rare Diseases

Internationally recognised leader in rare neuromuscular disease research Professor Gina Ravenscroft has been appointed the inaugural Dr Patricia…
#NewsBeep #News #Science #AU #Australia #disease #DrPatriciaKailis #Genetic #ginaRavenscroft #MedicalResearch #Perkins #rarecancercentre #raredisease #StanPerronCharitableFoundation #uwa
https://www.newsbeep.com/au/767024/

Tomorrow my guest post goes live on @RareBeacon for #PKUDay. I talk about Navigating Adulthood with PKU, and why community voices matter.

#PKU, #PKUDay, #RareDisease, #Phenylketonuria #LivingWithPKU

Tomorrow my guest post goes live on @RareBeacon for #PKUDay. I talk about Navigating Adulthood with PKU, and why community voices matter.

#PKU, #PKUDay, #RareDisease, #Phenylketonuria #LivingWithPKU

Tomorrow my guest post goes live on @RareBeacon for #PKUDay. I talk about Navigating Adulthood with PKU, and why community voices matter.

#PKU, #PKUDay, #RareDisease, #Phenylketonuria #LivingWithPKU

Tomorrow my guest post goes live on @RareBeacon for #PKUDay. I talk about Navigating Adulthood with PKU, and why community voices matter.

#PKU, #PKUDay, #RareDisease, #Phenylketonuria #LivingWithPKU

🧬 #GeneTherapies are revolutionary treatments for diseases that previously had no cure. But regulatory systems were not developed with gene therapies in mind, and adaptation is required to facilitate the assessment of gene therapies.
💡 ARDAT developed evidence to support the regulatory assessment of ATMPs, helping launch a clinical trial for a gene therapy for a #RareDisease
👉 Read the full story here: https://link.europa.eu/cgmm6P

🧬 #GeneTherapies are revolutionary treatments for diseases that previously had no cure. But regulatory systems were not developed with gene therapies in mind, and adaptation is required to facilitate the assessment of gene therapies.
💡 ARDAT developed evidence to support the regulatory assessment of ATMPs, helping launch a clinical trial for a gene therapy for a #RareDisease
👉 Read the full story here: https://link.europa.eu/cgmm6P

Pipeline release! nf-core/raredisease v3.1.1 - 3.1.1 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.1

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v3.1.1 - 3.1.1 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.1

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v3.1.0 - 3.1.0 - Princess Peach!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v3.1.0 - 3.1.0 - Princess Peach!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

https://www.europesays.com/ch/81755/ Novartis RNA Med From $12B Deal Keeps Building Case to Become First Therapy for Rare Muscle Disease #AvidityBiosciences #BiopharmaNl #ClinicalTrials #FascioscapulohumeralMuscularDystrophy #MuscularDystrophy #Novartis #RareDisease

💛 You are more than your PKU.

🌱 Maddison, 27, drifted from the PKU diet as a teen — the pressure of being "different" got too much. Now she's working her way back to it while juggling full-time work and college.

Her message: "Keep trying and keep advocating for yourself! You can do it and always ask for support when you need it."

Quick read — her full story here 👇
https://www.pigpen.page/you-are-more-than-your-pku/

My thanks to Maddison for Sharing her Story
#PKU #RareDisease #YouAreMoreThanYourPKU

💛 You are more than your PKU.

🌱 Maddison, 27, drifted from the PKU diet as a teen — the pressure of being "different" got too much. Now she's working her way back to it while juggling full-time work and college.

Her message: "Keep trying and keep advocating for yourself! You can do it and always ask for support when you need it."

Quick read — her full story here 👇
https://www.pigpen.page/you-are-more-than-your-pku/

My thanks to Maddison for Sharing her Story
#PKU #RareDisease #YouAreMoreThanYourPKU

💛 You are more than your PKU.

🌱 Maddison, 27, drifted from the PKU diet as a teen — the pressure of being "different" got too much. Now she's working her way back to it while juggling full-time work and college.

Her message: "Keep trying and keep advocating for yourself! You can do it and always ask for support when you need it."

Quick read — her full story here 👇
https://www.pigpen.page/you-are-more-than-your-pku/

My thanks to Maddison for Sharing her Story
#PKU #RareDisease #YouAreMoreThanYourPKU

💛 You are more than your PKU.

🌱 Maddison, 27, drifted from the PKU diet as a teen — the pressure of being "different" got too much. Now she's working her way back to it while juggling full-time work and college.

Her message: "Keep trying and keep advocating for yourself! You can do it and always ask for support when you need it."

Quick read — her full story here 👇
https://www.pigpen.page/you-are-more-than-your-pku/

My thanks to Maddison for Sharing her Story
#PKU #RareDisease #YouAreMoreThanYourPKU

https://www.europesays.com/dk/83945/ Novo Nordisk Scraps Rare-Disease Plant and Unleashes High-Dose Data to Fortify GLP-1 Empire #data #Fortify #GLP1 #HighDose #Nordisk #novo #NovoNordisk #plant #RareDisease #Scraps #Unleashes

Base editing approach repairs deadly Dravet syndrome mutation in mice

Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially…
#NewsBeep #News #Health #Adenine #AU #Australia #Brain #Children #dna #DravetSyndrome #Epilepsy #food #Gene #Genetic #Hospital #Laboratory #MedicalSchool #medicine #MouseModel #Mutation #Neurons #Preclinical #raredisease #research #Syndrome
https://www.newsbeep.com/au/669882/

Base editing approach repairs deadly Dravet syndrome mutation in mice

Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially…
#NewsBeep #News #Health #Adenine #AU #Australia #Brain #Children #dna #DravetSyndrome #Epilepsy #food #Gene #Genetic #Hospital #Laboratory #MedicalSchool #medicine #MouseModel #Mutation #Neurons #Preclinical #raredisease #research #Syndrome
https://www.newsbeep.com/au/669882/

Pipeline release! nf-core/raredisease v3.0.0 - 3.0.0 - Mario!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.0.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Pipeline release! nf-core/raredisease v3.0.0 - 3.0.0 - Mario!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.0.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!

Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
.

Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!

Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
.

Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft! #Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr! Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
.

Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft! #Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr! Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
.

I’ll attend the #EuroNDD Workshop in Warsaw in April. Anyone around the Fediverse going there as well? —> let’s connect!

I’m looking forward to present our work at https://www.findme2care.de AND hear about all the other projects.

Also: I’ll be co-hosting an educational session and roundtable discussion titled „Building Patient Registries under the GDPR – The Good, the Bad and the Ugly“ —> there are a few seats left for conference attendees!

#humangenetics #genetics #RareDiseases #RareDisease #ERN #ERNIthaca #patientregistry

I’ll attend the #EuroNDD Workshop in Warsaw in April. Anyone around the Fediverse going there as well? —> let’s connect!

I’m looking forward to present our work at https://www.findme2care.de AND hear about all the other projects.

Also: I’ll be co-hosting an educational session and roundtable discussion titled „Building Patient Registries under the GDPR – The Good, the Bad and the Ugly“ —> there are a few seats left for conference attendees!

#humangenetics #genetics #RareDiseases #RareDisease #ERN #ERNIthaca #patientregistry

GOP Sen. Johnson investigating FDA rare disease drug rejections

WASHINGTON — Sen. Ron Johnson (R-Wis.) said he is investigating the Food and Drug Administration’s rejections of rare disease…
#NewsBeep #News #Medication #AU #Australia #Biotech #Congress #FDA #Health #Pharmaceuticals #Policy #raredisease #STAT+
https://www.newsbeep.com/au/532539/

Doctors say that old people are full of regrets.

I'm trying not to have regrets.

I tend not to watch things like mountain climbing where abled bodied people achieve such bc I start to have feelings of regret.

I have a disability - autism - so I'm happy to watch productions where people overcome their conditions or disabilities.

#raredisease #pwd #disabled #blackdisabled #blackpwd #neurodivergent #blackneurodivergent #blackautistic #blackmastodon

Doctors say that old people are full of regrets.

I'm trying not to have regrets.

I tend not to watch things like mountain climbing where abled bodied people achieve such bc I start to have feelings of regret.

I have a disability - autism - so I'm happy to watch productions where people overcome their conditions or disabilities.

#raredisease #pwd #disabled #blackdisabled #blackpwd #neurodivergent #blackneurodivergent #blackautistic #blackmastodon

“The growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.”

#RareDiseaseDay #raredisease #chronicillness

https://pca.st/episode/cb7574f5-dd62-41ba-986d-686370acc4d6

“The growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.”

#RareDiseaseDay #raredisease #chronicillness

https://pca.st/episode/cb7574f5-dd62-41ba-986d-686370acc4d6

“The growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.”

#RareDiseaseDay #raredisease #chronicillness

https://pca.st/episode/cb7574f5-dd62-41ba-986d-686370acc4d6

“The growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.”

#RareDiseaseDay #raredisease #chronicillness

https://pca.st/episode/cb7574f5-dd62-41ba-986d-686370acc4d6

“The growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.”

#RareDiseaseDay #raredisease #chronicillness

https://pca.st/episode/cb7574f5-dd62-41ba-986d-686370acc4d6

Phẫu thuật cứu sống bệnh nhân nam mắc ung thư nhầy ruột thừa hiếm gặp tại Bệnh viện Bãi Cháy, Quảng Ninh. Ca bệnh diễn biến nhanh, nguy cơ đe dọa tính mạng, nhưng các bác sĩ đã kịp thời xử trí thành công.

#SứcKhỏe #UngThu #YHọc #BệnhHiếm #Health #Cancer #RareDisease #Medicine

https://vietnamnet.vn/phau-thuat-cuu-nam-benh-nhan-mac-ung-thu-hiem-gap-2486082.html

CON TRAI BỊ UNG THƯ DẠNG HIẾM, CHA MẸ NGHÈO THẾ CHẤP NHÀ KHÔNG ĐỦ TIỀN CHẠY CHỮA

Anh Vàng A Hương ở Điện Biên mắc bệnh ung thư hiếm, dù gia đình đã thế chấp nhà duy nhất nhưng vẫn không đủ tiền điều trị. Căn bệnh nan y kéo dài nhiều năm đang đặt gánh nặng tài chính và tinh thần lên cả gia đình.

#ungthu #benhnan #dienbien #hoanchanhtuthien #xahoi #cancer #raredisease #poverty #healthcare #charity

#ung thư #bệnh nan y #Điện Biên #hoàn cảnh khó khăn #xã hội #từ thiện #chăm sóc sức khỏe #hiếu thả

DATE: November 07, 2025 at 05:00PM
SOURCE: BioWorld MedTech

Direct article link at end of text block below.

UK’s @MHRAgovuk eyes #RareDisease framework for #therapeutic products

https://t.co/FMkePThQ8s

#medtech

Here are any URLs found in the article text:

https://t.co/FMkePThQ8s

#medtech

Articles can be found by scrolling down the page at https://www.bioworld.com/topics/85-bioworld-medtech .

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#healthcare #healthtech #healthcaretech #healthtechnology #medgadget #medicine #doctor #hospital #medtech

DATE: November 07, 2025 at 05:00PM
SOURCE: BioWorld MedTech

Direct article link at end of text block below.

UK’s @MHRAgovuk eyes #RareDisease framework for #therapeutic products

https://t.co/FMkePThQ8s

#medtech

Here are any URLs found in the article text:

https://t.co/FMkePThQ8s

#medtech

Articles can be found by scrolling down the page at https://www.bioworld.com/topics/85-bioworld-medtech .

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Private, vetted email list for mental health professionals: https://www.clinicians-exchange.org
.
NYU Information for Practice puts out 400-500 good quality health-related research posts per week but its too much for many people, so that bot is limited to just subscribers. You can read it or subscribe at @PsychResearchBot
.
Since 1991 The National Psychologist has focused on keeping practicing psychologists current with news, information and items of interest. Check them out for more free articles, resources, and subscription information: https://www.nationalpsychologist.com
.
EMAIL DAILY DIGEST OF RSS FEEDS -- SUBSCRIBE:
http://subscribe-article-digests.clinicians-exchange.org
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READ ONLINE: http://read-the-rss-mega-archive.clinicians-exchange.org
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#healthcare #healthtech #healthcaretech #healthtechnology #medgadget #medicine #doctor #hospital #medtech

Although the genetic cause of #PWS is known, therapeutic treatment primarly targets its symptoms. #PreclinicalResearch (often in mice) is essential to make progress on understanding the functioning of the involved genes and to develop new targeted therapies. In this research project we developed new PWS mouse models and analysed their phenotype (e.g., body features, behaviour and metabolism) using standardized experimental and analytical pipelines.

#PraderWilliSyndrome #RareDisease