GNAO1 Action

Families helping families around the world. United by the Perlara PBC research project that we hope, can change the lives of our children with GNAO1 G203R

[GNAO1 Action @Gnao1Action]

Following the same path

[Ethan Perlstein 1-to-N @eperlste]

I’ve taken for granted watching kiddos take their first independent steps thanks to drug repurposing.

But I forget that 99.9% of people don’t know about these success stories.

Seeing is believing 👀👇

[GNAO1 Action @Gnao1Action]

Closer and closer to treatment for our children! We continue to move forward on the right path. Proud of everything we have achieved so far with our friends from @PerlaraPBC, together on the path of BioAcceleration. #GNAO1 #G203R

[Ethan Perlstein 1-to-N @eperlste]

Just got a data dump for the @Gnao1Action G203R drug repurposing project. We now have clinically actionable hits that validated in yeast and worms!

We ran a parent-initiated N=6 study last year with an OTC supplement with some promising results.

Combo therapy in the works..

[GNAO1 Action @Gnao1Action]

Millones de gracias @PedroMorenoGmz por la implicación con las enfermedades raras y la discapacidad. 🩵🩵🩵

[Pedro Moreno Gómez. 💚🇪🇸 @PedroMorenoGmz]

Me he reunido con la Asociacion Nacional @Gnao1Action que tiene su sede en #Alcorcon. Una Asociacion que busca ayuda y financiación para la investigación de esta enfermedad rara. Todas las personas que puedan ayudar y colaborar, en la foto aparece el número de cuenta para colaborar. Cada €, cuenta. Nosotros vamos a colaborar y ayudar en todo lo que esté en nuestra mano.

[Ethan Perlstein 1-to-N @eperlste]

Want to see what a direct-to-patient biotech pipeline looks like?

22 programs funded by pioneer families, 12 in various stage of 1-to-N clinical studies, and half of hits are clinically actionable nutraceuticals.

This is how you start to do drug repurposing at scale.

[MDS @movedisorder]

Pediatric clinicians: Do you have patients with at least one childhood-onset movement disorder and any of these genes?

Become a contributor for this retrospective multicenter study with just a short data submission: https://t.co/kw2yPhv7Ba

[GNAO1 Action @Gnao1Action]

Hoy 1 de octubre conmemoramos el día de concienciación sobre las mutaciones en el gen GNAO1.

¿Y si pasamos a la acción?
La cura está más cerca que nunca y la esperanza para tantos niños que están y que estarán. Esa es la mejor celebración que podemos hacer en este día.
#GNAO1

[GNAO1 Action @Gnao1Action]

Proud of the great achievement! We move forward, the BEST is yet to come💫💫💫

[Ethan Perlstein 1-to-N @eperlste]

Hot off the presses!

The top yeast hit from the GNAO1 G203R drug repurposing screen just validated in the worm model.

We call that two-avatar authentication.

The coolest part is we’ve already run a N=5 study and this top hit has efficacy in kiddos.

More to come soon..

[GNAO1 Action @Gnao1Action]

@eperlste Thank you for your visit! Like a shooting star... here you have your home. See you soon

[GNAO1 Action @Gnao1Action]

Welcome to Europe!

[Ethan Perlstein 1-to-N @eperlste]

I’m in Europe for work meetings, culminating in the World CDG (Congenital Disorders of Glycosylation) conference in Lisbon next week.

Hosting meetups in London, Amsterdam, Berlin, Warsaw, Paris, Madrid and Lisbon.

[Moritz Thiel @Thiel_Mo]

Our article "Genotype–phenotype correlation and treatment effects in young patients with GNAO1-associated disorders"
is now online available.
New content for the GNAO1 community.
https://t.co/Z4fDVS1bN9
@Gnao1Action @Gnao1Espana @gnao1nl @FamiglieGNAO1 @gnao1research @Gnao1Uk

[Perlara @PerlaraPBC]

In partnership with @Gnao1Action, G203R yeast avatar drug repurposing screens are done 💊♻️ ✅

Next stop: 1-to-N pioneer studies

https://t.co/krht4V2Kg0

[GNAO1 Action @Gnao1Action]

Unlocking the secrets of the #G203R variant #GNAO1 Doing science and getting closer to treatment.

[Perlara @PerlaraPBC]

GNAO1 yeast avatars update:

The G203R variant (left) acts as both gain-of-function and loss-of-function.

The G204A variant (right) behaves like a classic loss-of-function.

@Gnao1Action

[Ethan Perlstein 1-to-N @eperlste]

It just takes one family and one physician to try a drug, discover novel biomarkers, share all the data, and make enormous impact.

The reality is to get started on your cure odyssey you don’t need a registry or a natural history study — or even a community for that matter.

[Ethan Perlstein 1-to-N @eperlste]

We’re simply not making progress fast enough.

We need 100s of new medicines approved per year to even begin to make a dent in all 9,000+ rare diseases.

It feels good to commune with others in person or on social media today, but good feels won’t make medicines.

[GNAO1 Action @Gnao1Action]

On Rare Disease Day, this ir our message today.
#RareDiseaseDay2023

[Ethan Perlstein 1-to-N @eperlste]

#RareDiseaseDay comes and then goes every year — we need to acknowledge that it’s not really working as a marketing strategy or a way to generate sustained commercial interest.

I believe we need a new message and cure focus:

PATIENTS ARE THE PLATFORM
https://t.co/EGu89v3GB1

[Ethan Perlstein 1-to-N @eperlste]

Patients are the true limiting reagent in the crucible of drug development. It's time we recognize this reality, and build a care-to-cure system that rewards patients with both cures and cash. https://t.co/1Ybwzrd2Yn

[Ethan Perlstein 1-to-N @eperlste]

Our first image-based yeast cell phenotypic screen yielded drug multipurposing hits!

As we’ve seen time and time again, the hits are unique to this gene/disease.

[GNAO1 Action @Gnao1Action]

Our history so far....

#DrugMultipurposing
#PerlaraPioneerFamilies

[Perlara @PerlaraPBC]

GNAO1 yeast avatars for drug multipurposing @Gnao1Action https://t.co/bB3Le02jxV

[Ethan Perlstein 1-to-N @eperlste]

Data hot off the presses!

We performed a screen to assess the activation of a GPCR signaling pathway in a GNAO1/GPA1 yeast avatar with reduced pathway activity at baseline.

Hit 1 (left) versus untreated control (right)

[GNAO1 Action @Gnao1Action]

Proud of our @PerlaraPBC team on the first major milestone in finding the first treatment for a variant of the #GNAO1 mutation.

[Ethan Perlstein 1-to-N @eperlste]

We finally just got hits for the GNAO1 yeast drug multipurposing project with @Gnao1Action!

It’s our first image-based screen using a fluorescent reporter. The top two hits are structural analogs — always good to see.

Followup experiments underway..