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10/16/2026

Meet Veda 💜

In this episode of our Diagnose Me series, we sit down with Veda and her mom to share their journey with Mucopolysaccharidosis Type IIIA (MPS IIIA), also known as Sanfilippo syndrome.

Sanfilippo syndrome is a rare, progressive genetic disorder that affects the body’s ability to break down certain complex sugars, leading to their accumulation in cells and progressive neurological decline.

In September 2026, the FDA approved FAYUVI, the first-ever approved treatment for MPS IIIA. This gene therapy represents a major milestone for eligible children living with the condition.

And progress doesn’t stop there. Clinical trials are underway for MPS IIIB, while families and advocates in the MPS IIIC community are working to bring a clinical trial to life.

These advancements are a reminder of the power of research, advocacy, and a rare disease community that refuses to give up.

We’re incredibly grateful to Veda and her mom for sharing their story and helping raise awareness for Sanfilippo syndrome.

Learn more about Veda’s journey and support her family at savingveda.com.

October is Vascular Ehlers Danlos (VEDS) Action Month! Connect your patients and families with The VEDS Movement, which ...
10/09/2026

October is Vascular Ehlers Danlos (VEDS) Action Month! Connect your patients and families with The VEDS Movement, which funds research, educates clinicians, and supports families every step of the way.

Learn more at thevedsmovement.org.

What’s new at EveryGene?! Actually, a lot! Swipe to see everything we’ve added over the past few months! Fun fact! If I ...
10/04/2026

What’s new at EveryGene?! Actually, a lot! Swipe to see everything we’ve added over the past few months!

Fun fact! If I get quiet on Instagram, it usually means I’m building something cool! (Or I’m in Thailand lol)

A COMPLETELY FREE METABOLICS QUESTION BANK!

For those taking metabolic boards, these are the questions written by Dr. Kirkland Wilson, now integrated into the EveryGene platform.

To access it, you’ll need to go to www.every-gene.academy/qb/metabolic . And if you already made an account for our other study bank, you’ll still need to make a new account under this study bank. DM if you have trouble getting in :)

Our Substack has reached 3 years old! Can you all believe we’ve been around that long?!

The OG Flashcards are BACK IN STOCK!

Got a group of 4 or more interested? A whole GC program? DM me for group rates!

For you pediatric peeps out there, a free workbook for you too!

And if interested, we also launched a new flashcard deck as well, specifically tailored for the pediatric board exam! Just check out our website! (For those in genetics, stick to the OG Flashcard deck- no need for both)

Anddd we added more questions to the EveryGene Academy Question Bank! Bring the total questions to ~850 questions for the ABGC board and ~860 for the ABMGG boards!

Most importantly, this includes 65 more GC only questions based off the red book! Natascha Simone Carter (thanks!)

This question bank is an incredible resource for those studying boards! Not only do you learn a bunch to prepare you for boards, but you also learn how to take tests…which can be half the battle!

I’ve also been seeing a bunch of GC/MD trainees using this to study throughout their training! (Which I think is a great idea to reinforce concepts you’re learning in the classroom!)

We also translated our Pedigree workbook into Portuguese! Shoutout to Rayana Maia | Médica Geneticista Maria Inez Dacoregio !!

And soon, we will also be translating our workbooks into Thai!

You can find it, and our other workbooks on our website (link in biooooo).

Want these workbooks in another language? Just let me know!

So grateful for the opportunity to work alongside the medical team at Ramathibodi Hospital, Mahidol University, in Bangk...
10/03/2026

So grateful for the opportunity to work alongside the medical team at Ramathibodi Hospital, Mahidol University, in Bangkok.

Over the past 10 days, I’ve learned from dedicated colleagues as we cared for people with Barth syndrome, methylmalonic acidemia, collagen disorders, Noonan syndrome, citrin deficiency, and many other genetic conditions. Their expertise, work ethic, and commitment to their patients have left a lasting impression on me.

Alongside giving lectures on lysosomal diseases and social media in genetics, I joined the team on inpatient wards, in outpatient clinics, and at outreach clinics beyond Bangkok. Seeing how they connect families with specialized care across such a wide geographic area was one of the most meaningful parts of this trip.

Thank you to my colleagues for making this collaboration between OHSU and Mahidol University possible, and to our hosts for welcoming us so generously. I’m heading home with new perspectives, new friendships, and so much to bring back to my own practice. I can’t wait to return and continue learning together.

Free Monthly Knowledge delivered to your inbox! Link in bio!This months articles: Are We Ordering Too Much Rapid Sequenc...
10/01/2026

Free Monthly Knowledge delivered to your inbox! Link in bio!

This months articles: Are We Ordering Too Much Rapid Sequencing? Phenotyping and Judgment still matters, and New Paternal Valproate Data!

09/18/2026

FDA Approves First Gene Therapy for Pediatric Patients with Sanfilippo Syndrome Type A

09/07/2026

If we want to LEAD the narrative around genetics and genetic testing, we have to meet people where they are at and right now they are online.

A quick read to start your September off right! This month I briefly summarize a few articles: New Disorder discovery! D...
09/01/2026

A quick read to start your September off right!

This month I briefly summarize a few articles: New Disorder discovery! Decreasing Fabry Disease Infusion Associated Reactions, and Genomics-first Pharmacogenomics!

You can check out this all out for free on our Substack! Link in bio!

Do you like guessing games? And Genetics? Or what about guessing games about genetics?!?! Well, you're in luck. Head to ...
08/31/2026

Do you like guessing games? And Genetics? Or what about guessing games about genetics?!?! Well, you're in luck. Head to Sporcle to play the free "Genetic Top 30: See the Gene - Guess the Condition!" quiz!

If you are able to solve this quiz in under 5 minutes, send me a screenshot and I'll send you some EveryGene stickers!

08/25/2026

Genetics is cool!

Send to your non-genetics friends and let them know you’re really smart 🤓

For real though if you’re interested in a career in genetics send me a DM!

On a side note- every time a new Tom Holland movie comes out at least 3-5 people will say I look like him. See it? I don’t. I mean I can’t even shoot webs out of my hands.

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