@fdna

Detecting rare disease early with the help of AI

 United States
FDNA.com
Joined March 2014
  • Tweets1.3K
  • Following1.1K
  • Followers5.9K
271Media
Include

Only show posts containing:

Exclude

Hide posts containing:

Time range
-
Minimum likes
October is #DownSyndromeAwarenessMonth. We recognize people with Down syndrome, their families, and the clinicians, researchers and advocates working to advance understanding, care and inclusion. Learn more: fdna.com/health/resource-cen… #DownSyndrome #Genetics

Down syndrome

Check your child online and learn about Down syndrome, including its signs, symptoms, diagnosis, and valuable information.

fdna.com
82
September 15 is Wiedemann-Steiner Syndrome Awareness Day. WSS's genetic cause (KMT2A) was identified only in 2012. Arora et al. reported the first WSS patient from India - Face2Gene suggested WSS as the top-ranked candidate. doi.org/10.1002/ajmg.a.61534 #WiedemannSteiner #Face2Gene

Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from...

Wiedemann–Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic...

onlinelibrary.wiley.com
1
1
56
Interesting article from Alex Janin exploring AI's potential in rare disease diagnosis in WSJ. Gift link: lnkd.in/gebrfbSw

LinkedIn

This link will take you to a page that’s not on LinkedIn

lnkd.in
48
Announcing today that @fdna has been selected by @ARPA_H as a performer in the Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program. ARPA-H awarded FDNA a contract as part of a larger investment in RAPID.
Page 1 of FDNA's press release. Headline: FDNA Selected by ARPA-H to Help Families Reach a Rare Disease Diagnosis Sooner. Dated Atlanta, August 31, 2026. FDNA has been selected as a performer in ARPA-H's Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program. The release describes how Family Health Checker gives parents a digital front door to bring concerns, photos, symptoms and health history into a clinical workflow, and how Face2Gene helps clinicians develop a differential list of possible syndromic conditions, with diagnosis remaining a clinical determination. It closes with a quote from CEO and Co-Founder Erik A. Feingold: Families shouldn't need to understand the rare disease system before the system can help them.

ALT Page 1 of FDNA's press release. Headline: FDNA Selected by ARPA-H to Help Families Reach a Rare Disease Diagnosis Sooner. Dated Atlanta, August 31, 2026. FDNA has been selected as a performer in ARPA-H's Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program. The release describes how Family Health Checker gives parents a digital front door to bring concerns, photos, symptoms and health history into a clinical workflow, and how Face2Gene helps clinicians develop a differential list of possible syndromic conditions, with diagnosis remaining a clinical determination. It closes with a quote from CEO and Co-Founder Erik A. Feingold: Families shouldn't need to understand the rare disease system before the system can help them.

Page 2 of FDNA's press release. Section About ARPA-H RAPID: RAPID is led by program manager Scott Gorman in ARPA-H's Proactive Health Office. More than 10,000 rare diseases affect over 350 million people worldwide, and the diagnostic odyssey takes six years on average. RAPID is a 4.5-year program to build a large rare disease dataset and develop AI tools. Section About FDNA: headquartered in Atlanta, develops computer vision and AI-powered phenotyping and differential decision-support technologies. Face2Gene is used across more than 10,000 clinical sites in over 130 countries. Family Health Checker is non-diagnostic. Includes an ARPA-H funding disclaimer and media contact details for Stefanie Eichner.

ALT Page 2 of FDNA's press release. Section About ARPA-H RAPID: RAPID is led by program manager Scott Gorman in ARPA-H's Proactive Health Office. More than 10,000 rare diseases affect over 350 million people worldwide, and the diagnostic odyssey takes six years on average. RAPID is a 4.5-year program to build a large rare disease dataset and develop AI tools. Section About FDNA: headquartered in Atlanta, develops computer vision and AI-powered phenotyping and differential decision-support technologies. Face2Gene is used across more than 10,000 clinical sites in over 130 countries. Family Health Checker is non-diagnostic. Includes an ARPA-H funding disclaimer and media contact details for Stefanie Eichner.

1
1
2
85
Replying to @ARPA_H
We are honored to have been selected by ARPA-H to help families reach a Rare Disease diagnosis sooner. #RareDisease #RAPID #FDNA
14
FDNA retweeted
ARPA-H
@ARPA_HAug 31
30 million Americans live with a rare disease. Diagnosis takes six years on average—for some, it can take decades. Only 5% have an approved treatment. ARPA-H is changing the pace with RAPID—using AI, data, and scalable systems to diagnose rare diseases faster and support the development of new treatments. Meet the teams behind RAPID 👉 arpa-h.gov/news-and-events/a…
3
8
3
30
2,734
It's #SMAAwarenessMonth. Worried about your child's movement or strength? Family Health Checker helps you organize symptoms & history into a clinician-ready summary for a more productive visit. Educational, not a diagnosis. #RareDisease
264
"AI becomes a force multiplier in the fight against rare diseases." A respected clinical geneticist's framing, not ours. And he points to #Face2Gene as an example. Worth a read: koreabiomed.com/news/article… #RareDisease #AIinHealthcare #ForceMultiplier

[Column] AI becomes a force multiplier in the fight against rare diseases - Korea Biomedical Review

AI is rapidly reshaping medicine, from diagnosis to drug development. Few areas may benefit more than rare diseases, where limited data, delayed diagnoses and a lack of treatment options have long ...

koreabiomed.com
44
For children with GDD/ID, phenotype-driven evaluation matters: history, exam, growth, vision/hearing, syndromic features, then genetic testing guided by the child’s presentation. Clinical picture first. publications.aap.org/pediatr… #PediatricGenetics #GDD

Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay:...

Genetic neurodevelopmental disorders are common in the pediatric population, and establishing a specific diagnosis early provides multiple benefits including prognostication, surveillance for...

publications.aap.org
34
Genetic testing can help uncover insights into developmental and genetic disorders in children - from newborn screening to diagnostic tests, carrier screening, and whole genome sequencing. 🧬 Learn how different tests may support next steps. 🔗 fdna.com/health/resource-cen…

Types of Genetic Tests for Developmental and Genetic Disorders in Children 

Learn why genetic testing is important for children with developmental disorders. Explore test types and the insights they provide.

fdna.com
35
FDNA retweeted
U.S. FDA
@FDAMay 11
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/press-an…
115
68
16
234
49,237
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/resource-cen…

The Power of Peer Support Groups for Parents

Learn how peer support groups can help parents cope with the challenges of genetic conditions. Gain strength through shared experiences.

fdna.com
24
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/resource-cen…

Why Is Autism Increasing?  

Autism diagnoses are rising in the US. Learn why autism is increasing, what science says, and what it means for your child’s development.

fdna.com
18
Replying to @fdna @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
1
12
Replying to @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.
1
1
8
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
🤖 Made with AI
FDNA graphic for Plasminogen Deficiency Awareness Day noting that PLGD-1 is often mistaken for chronic pink eye, recurring ear infections, or a persistent cough, and that earlier recognition matters.

ALT FDNA graphic for Plasminogen Deficiency Awareness Day noting that PLGD-1 is often mistaken for chronic pink eye, recurring ear infections, or a persistent cough, and that earlier recognition matters.

1
1
27
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/resource-cen… . .

What is the Cause of Trisomy 21?

Learn what causes Trisomy 21 (Down syndrome), including chromosomal nondisjunction, risk factors, and how an extra chromosome occurs.

fdna.com
29
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
18
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/resource-cen… #RareDisease #ChildHealth #Genetics

Rare Genetic Disorders in Children: What to Watch For

Worried something isn’t right? Discover early symptoms of rare genetic disorders in children and how to seek the right support.

fdna.com
20
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
31
Load more