Whole-genome sequencing is currently needed to diagnose #renusyndrome, creating significant access issues for families seeking answers. We are committed to reducing barriers and improving equity for those on the #diagnosticodyssey.
#renuhope
1 in 4 people wait at least three years for a rare condition diagnosis.
Equity means different things to different people but we can all unite in calling for an end to the #DiagnosticOdyssey and demanding timely and equitable access to specialised care and innovative treatments.
Ending the #DiagnosticOdyssey requires more than genome sequencing. It needs equity, trust, data & policy change. Read the key insights from our Companies Forum
➡️ www.camraredisease.org/diagnostic-o...
@genomicsengland.bsky.social @sicklecelluk.bsky.social @lifearc.bsky.social @rairda.bsky.social
🧠 New #MetabolicMysteries episode!
A child with seizures, 3 wrong diagnoses—including opsoclonus-myoclonus-ataxia. Can you crack the case?
👀 Dr Takle & Dr Sen investigate.
🎧 Spotify open.spotify.com/episode/0bLJ...
#JIMDPodcast #RareDisease #DiagnosticOdyssey
Solving rare disease mysteries takes science and community. Dr. Jennifer Wambach highlights RNA-seq, mosaicism, and social media in helping families with SLC17A5, POLR3A, and surfactant deficiencies get answers. #UDN #RareDisease #DiagnosticOdyssey #TeamScience
The #RareDisease #DiagnosticOdyssey is a glaring example of health inequity. A Canadian Organization of Rare Disorders survey found pts saw 5.9 clinicians & received 3.2 misdiagnoses over 3.7 years before receiving an accurate Dx. RD awareness is crucial. #RareDiseaseIsNotRare #RareDiseaseTruth
> LOOK You are in a sweltering desert. The blistering sun blasts its rays at you as you crawl across the scorching sands in your tattered garments. A buzzard circles hungrily above. In the distance to the north you see what you hope is an oasis. You can make out a sign saying "DIAGNOSIS". What now? >_
Having a #RareDisease is a common problem. Many patients with rare diseases undergo a prolonged #DiagnosticOdyssey before they reach a diagnosis, and even then, further perils and pitfalls await. This is why we undertook projects like DDD & 100,000 Genomes Project.
Having a #RareDisease is a common problem - a lot more than people realise. #RareDiseases give us a *lot* of information about how the human body works. In this video for NIRDP I'm talking about some of these things and the #DiagnosticOdyssey patients undergo. Enjoy!
www.youtube.com/watch?v=8UxY...
Hey, @DempseyKarolena: have you seen this? #schnitzler #RareDisease #diagnosticodyssey
