🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

📣 Introducing the Curetopia core team! Ethan Perlstein bio/acc as founder-mode CEO MAMITLO CORDEX 🔥⛑ as Community Manager on Telegram (and soon Discord) Paula leads Marketing & Community Engagement Effie Parks as Rare Storyteller and Community Builder

If you want to better understand genetic testing and why your child’s data matters - this workshop is for you. It’s beginner-friendly. You’ll learn how testing works, why more diagnoses matter, and how companies like GeneDx are using this data to move research forward. They

Terry Jo Bichell Set Out to Fix Her Son’s Gene. Then She Built a Platform to Help Everyone. Terry Jo Bichell has the mind of a scientist, the soul of a midwife, and the delivery of someone who might’ve just wandered off stage at Woodstock with a notebook full of biomarker ideas.

I'm giving away one of our new athletic dresses from XX-XY Athletics. It comes in light blue, pink, black and white. You get to choose which color. It's perfect for tennis, golf, pickleball or hanging out. Retweet or just reply with a 'pick me' and you could be the recipient

My son Ford lives with a rare genetic disorder called CTNNB1. His sister? She lives with everything else that comes with it. We talked about about it in the newest RARE Revolution Magazine sibling edition. Alexion bit.ly/RAREMotherHOOD

She Was the Footnote in a Lecture. Now She’s the One Writing the Story - with Neena Nizar Neena Nizar grew up in 1980s Dubai with no diagnosis, no accessibility, and no way to understand the physical pain or explain what was happening to her body. The buildings she needed to

Diagnosis Didn’t Break Him - It Unleashed Him, with Nathan Peck of Cure VCP. You don’t forget meeting Nathan Peck. He’s got a rare kind of presence - a big southern voice and an even bigger heart. He speaks with clarity, not polish. The kind of guy who tells you the truth

Please adore my Loaded Baked Potato Focaccia. A true highlight of my life. instagram.com/reel/DJX54UGPE…

What more proof do you need that therapeutic modalities are zooming to infinity? Liu Lab is single-handedly responsible for many of these platform technologies! The question is: How do turn these breathtaking N-of-1 scientific milestones into commercial products at scale?

Do you love the movie - Hackers? Of course you do. Maybe you'll enjoy this story too. "She Found the Backdoor - One Mom’s Hack on Genetic Diagnosis w/ Julia Taravella" I met Julia Taravella in a Seattle coffee shop in 2022, after she messaged me while she was in town from

Today I got a call from our feeding tube supply company - after nine years of consistent monthly service, they told me they're dropping us effective immediately because my son has both Medicaid and private insurance. What’s confusing is that our private insurance covers 100% of

The FDA is conducting a national listening tour to meet directly with pharmaceutical and biotech CEOs. These forums are part of a new initiative to gather direct input from biotechnology and pharmaceutical leaders on how the FDA can modernize its regulatory framework to better

Family values are sacred in our home. My 6 year old has just tasted her very first Jersey Mike's Subs 💫💫💫💕💕

The Weight He Carried: How One Rare Dad Turned Heartbreak into Horsepower w/ Jeff Allen I cried when I first interviewed Jeff. To be honest, I expected a polished media chat - maybe even a PR rep listening in, which usually takes some of the magic out of it. He’d just won $10

DYK the $10M winner of MrBeast's #BeastGames is a #RareDisease dad!? Effie Parks just interviewed him. Read below. ⬇️⏬⬇️

Dads really do matter.

Praise the Lord! A little less, "let's wait and see," "all kids are different," "they'll grow out of it." Exome or genome testing is recommended as first tier tests for global development delay or intellectual disability when no specific dx is suspected. Genetic testing is

Hey Jersey Mike's Subs - it’s Effie Parks, host of Once Upon a Gene and probably the top user of your app west of the Mississippi 🥖💳 (check my rewards, I dare you). Here’s the deal: My son Ford (who is turning 9 in only 6 days!!) has CTNNB1 Syndrome - a rare genetic disorder

When times are uncertain, I'm proud of our successes like treating 3 patients with Angelman Syndrome in a phase 3 trial, 2 patients with SMA with clinical Spinraza and 2 other little ladies with KIF1a and HNRNPH2 related neurodevelopmental disorders in just 1 week!

I asked Jersey Mike’s to feed our families, researchers, and doctors on the day of our natural history study exams - and within ONE HOUR, they said yes. Huge thanks to our friends at Sophie’s Hope for making that happen. Then someone else donated drinks. Then someone else