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FDNA
1.3K posts

FDNA
@fdna
Detecting rare disease early with the help of AI
United States Katılım Mart 2014
1.1K Takip Edilen5.9K Takipçiler
FDNA retweetledi

FDA is calling on patients, clinicians, and researchers to help identify drugs that could be repurposed to treat chronic and rare diseases and help address other unmet medical needs. Share your ideas to help advance new treatment options. fda.gov/news-events/pr…

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Parenting a child with developmental or health challenges can feel isolating - but you don’t have to go it alone. Peer support groups offer comfort, shared wisdom, and practical resources for families navigating similar journeys. 🌱
🔗 fdna.com/health/resourc…
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Autism diagnoses have risen sharply - largely due to better detection, broader criteria, and greater awareness. Genetics and other risk factors matter too; more children are now identified earlier.
fdna.com/health/resourc…
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@zebrahoofbeat Accredited references: OMIM #217090 - NORD entry on Congenital Type 1 Plasminogen Deficiency, the Plasminogen Deficiency Foundation, and the most recent peer-reviewed clinical review: Shapiro AD, Nakar C. How I treat type 1 plasminogen deficiency. Blood. 2025;145(25):2954-2965
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@zebrahoofbeat We're not clinicians, so we defer to the published literature. PLGD-1 typically presents in infancy or early childhood, with a median age at onset of approximately 1 year — but onset varies widely, and adult-onset cases are documented.
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Today is Plasminogen Deficiency Awareness Day. PLGD-1 is often mistaken for chronic pink eye, recurring ear infections, or a persistent cough. Earlier recognition matters. FDNA stands with the rare disease community. #PLGD #RareDisease

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FDNA retweetledi

A milestone day for clinical trial innovation.
We’re announcing the first real-time clinical trials, where @US_FDA can see data signals and endpoints in real time. A quick explainer:
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Down syndrome (Trisomy 21) happens when there’s an extra copy of chromosome 21, most often due to a random error in cell division, not something anyone caused.🧬Understanding genetics can help support families and conversations with care teams.💙
🔗fdna.com/health/resourc… . .
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Today is Undiagnosed Day — a day to recognize the millions living without answers. 💡🧬
Behind every undiagnosed condition is a family seeking clarity, support, and hope. Early recognition, genetic evaluation, and community matter.
#UndiagnosedDay #RareDisease #RareButNotAlone
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Noticing developmental differences in your child? Early signs of rare genetic disorders can be subtle. Awareness matters. 🧬
Learn what to watch for and how FDNA’s Family Health Checker can help guide next steps.
🔗 fdna.com/health/resourc…
#RareDisease #ChildHealth #Genetics
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March 25 is Cerebral Palsy Awareness Day 💚
Today we raise awareness, challenge misconceptions, and celebrate the strength and resilience of the CP community.
Awareness leads to understanding. Understanding leads to inclusion.
#CerebralPalsyAwarenessDay #CPAwareness
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March 21 is World Down Syndrome Day 💛💙
Today we celebrate inclusion, acceptance, and the amazing individuals with Down syndrome who make our world brighter every day.
#WorldDownSyndromeDay #InclusionMatters #LotsOfSocks
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Every milestone counts 🧠❤️
From first words to confident steps, a developmental assessment helps you understand your child’s growth & find support when needed. 🍼✨
Read the full guide ➡️ fdna.com/health/resourc…
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Not all kids speak at the same pace and that’s okay 🤗
Learn about possible reasons for speech delay and when to talk to a professional.
Read more ➡️ fdna.com/health/resourc…
#ToddlerTalk #EarlyIntervention
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💙 March is Trisomy Awareness Month 2026 💙
Today we celebrate strength, diversity, and the incredible individuals and families living with trisomy.
Awareness leads to understanding. Understanding leads to inclusion.
#TrisomyAwarenessMonth #InclusionMatters
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Today is #RareDiseaseDay 💜
We stand with millions of families navigating rare conditions, long diagnostic journeys, and unanswered questions. Raising awareness and accelerating answers makes a difference — today and every day.
#RareDiseaseDay
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Proud to participate in #RareDiseaseDay Cleveland 2026 at @cwru.
FDNA CEO & Co-Founder Erik A. Feingold joined a fireside chat on AI as a catalyst for diagnosis and equity in pediatric & rare disease care. Advancing earlier diagnosis through clinical decision support.




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Is ADHD always considered a disability?
The answer depends on symptom severity, functional impact, and access to support services.
We break it down in our latest Blog post
fdna.com/health/resourc…
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Why isn’t my baby crawling yet? 👶
Development looks different for every child, but understanding milestones — and when to seek guidance — can ease uncertainty. Learn possible causes of crawling delays and next steps.
👉 fdna.com/health/resourc…
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Years-long diagnostic odysseys devastate rare disease families—but AI may help. Feb 25: FDNA CEO Erik A. Feingold on how Face2Gene supports journeys today & may transform care tomorrow. Fireside Chat: “Precision & Perspective.” Register:donate.rarediseases.org/event/rare-dis…
#RareDisease #FDNA
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