Slc6a1 Connect

06/02/2026

For families in the rare disease community, one of the most difficult questions is: “Is it too late?”

A newly published study in PubMed offers a hopeful answer.

The research suggests that the brain’s inhibitory circuits, including those that rely on GABA signaling, remain remarkably adaptable throughout development. This is especially meaningful for families affected by SLC6A1-related disorder, where mutations in the SLC6A1 gene disrupt the Gamma-Aminobutyric Acid transporter known as GAT-1.

What this means in simple terms is that the brain may continue to respond to treatment long after early childhood.

For our community, this supports the idea that therapies such as gene therapy, antisense approaches, and small molecules that restore GAT-1 function could still lead to meaningful improvements in seizures, speech, behavior, sleep, and learning.

Rare disease parents often define a “cure” differently than the rest of the world.

A cure might be:
💙 A first word
💙 Sleeping through the night
💙 Riding a bike
💙 Playing Little League
💙 Greater independence

Sometimes a 10% improvement can change the trajectory of an entire life.

This study reinforces something our families have always believed:

The brain is still capable of change.
Hope does not expire with age.
And it is never too late to fight for our children. 🧬✨

https://pubmed.ncbi.nlm.nih.gov/42101103/

05/30/2026

I had the pleasure of spending time with a beautiful SLC6A1 family in the Netherlands.

Beautiful Meesterbrein has no words and moves constantly. Jumping on trampolines, running through the garden, sneaking food when nobody is looking. His little body never truly rests, even when it is exhausted.

And then there is Haikje Verberk. A mother with endless patience who sleeps beside him every single night. The kind of love that asks for nothing and gives everything.

What struck me most was the bond between them. Haikje is Mees’ entire world. When he wraps his arms around her, you can see everything he cannot say. The love in his eyes. The way his whole body melts into hers.

He says it all in a gesture. 🤍

05/28/2026

The World Orphan Drug Congress just got a whole lot cuter 💖✨

Riley Freed is heading to Boston next month and we could not be more excited 🧸✈️🏙️ The lineup looks incredible, especially the conversations around rare disease clinical trial design 🧬, new FDA pathways 📋, and commercial launch strategies 🚀

Riley would LOVE for you to join her session: What Caregivers Really Want You to Know 💕

Joining us will be Luke Rosen, Jennifer McNary, and Paul Kidwell. 😊

If you’re in biotech, pharma, advocacy, or the rare disease space, I’d truly love to connect while we’re there 🤝💫 Let’s talk strategy, innovation, and how we move treatments forward for families who simply cannot wait 💙🧬

05/27/2026

I'm speaking at 🧬

If you are interested in learning more about , please message me!

Register before May 29 + use code SBSPK25 for 25% off:

Join 2,000+ attendees at WODC 2026 in Boston. Explore orphan drug innovations, hear from 280+ speakers, and connect with rare disease leaders.

05/26/2026

The annual American Gene Technologies® International Inc. meeting was nothing short of extraordinary.

For years, our conversations centered around hypothetical clinical trials, theoretical outcomes, and the question of whether a treatment for SLC6A1 would ever become reality.

This year was fundamentally different. For the first time, an SLC6A1 patient has been dosed with gene therapy.

We have meaningfully de-risked the transgene. A repurposed drug is becoming increasingly accessible to families.

The conversations that once revolved around "if" are now centered on "when."

And that is an incredible sentence to write.

One of the most meaningful parts of the week was seeing so many of the scientists, clinicians, advocates, and industry leaders I admire and finally having the opportunity to thank them in person. Their dedication is turning what once felt impossible into something tangible and within reach.

After years of uncertainty, the future for individuals living with SLC6A1 has never looked brighter.

ASGCT2026

05/20/2026

We were proud to take part in the End of Year Showcase for the inaugural season of the Rare Project Network at Norte Dame👏

This pilot semester brought together nearly 200 undergraduate students across 14 rare disease organizations to contribute to real-world advocacy and scientific initiatives. The energy, thoughtfulness, and commitment from these students was remarkable.

A special thank you to Hamilton Roebken for his outstanding leadership. Hamilton led a team of 24 students working alongside SLC6A1 Connect, delivering meaningful work across both advocacy and science. The team presented five posters at the showcase, and their Scientific Outreach Team received the Clinical Bridge Award 🏆

We are deeply grateful to the entire Notre Dame SLC6A1 team for their collaboration and dedication throughout the semester.

Thank you as well to Timothy Theisen, Katrina Conrad, and Barbara Calhoun for making this program possible.

This is what progress looks like when community, science, and the next generation come together 💙 We are excited for what’s ahead.

05/18/2026

A huge congratulations to our dear scientist, Dr. Katty Kang at Vanderbilt on the launch of PBCures Therapeutics. PBCures is built on a simple truth: phenylbutyrate already works in children with SLC6A1 epilepsy.

In a clinical study, 7 of 10 children responded after 10 weeks of treatment. At 2–3 year follow-up, 8 of 10 had sustained seizure reduction, often with seizure freedom.

Biology is not the bottleneck. Delivery is.

To reach the brain, current formulations require very high systemic doses that can cause dose-limiting metabolic acidosis and many other side effects. That is the problem we built PBCures to solve.

The drug candidates, PBC-001 and PBC-002, use a molecular sleight of hand: we chain the therapeutic cargo to an amino acid — disguising it as nutrition. The brain's own transporter, LAT1, picks it up at the blood-brain barrier and carries it across. The drug slips through under cover of something the brain already trusts.

This clever trick sidesteps the need for high systemic doses. Thus: no metabolic acidosis and fewer side effects. Just delivery.

Current status:
- Synthesis contracted at Vanderbilt's Medicinal Chemistry core
- Two U.S. provisional patents filed and assigned to PBCures
- Preclinical readout targeted Q3–Q4 2026
- Predefined kill gate: seizure reduction, brain pe*******on, no metabolic acidosis

And a pledge: Every child with a confirmed diagnosis receives treatment regardless of ability to pay.

For the SLC6A1 community, this is deeply meaningful.

We know how long families have waited for innovations like this. Turning an existing scientific signal into a practical, scalable therapy is exactly the kind of creative thinking our community needs.

05/18/2026

05/12/2026

What an unforgettable three days! 🤩!
243 participants | 57 speakers | 39 posters | 15 sponsors

From groundbreaking talks on developmental & epileptic encephalopathies, epilepsy genetics, and new & emerging therapies, to lively discussions (and plenty of laughs), it was truly inspiring to learn, share, and connect with colleagues and friends from around the world 🌍.

I was also honored to speak and share the patient and advocacy perspective alongside so many incredible scientists, clinicians, and industry leaders. These conversations and collaborations are what move the field forward 💙.

Already counting down to DICE2028 🥳!