In this issue of CureSHANK Community News, we’ll tell you about a milestone hire for our CureSHANK team, key takeaways from our second annual Phelan-McDermid Syndrome Drug Development Symposium (PMSDDS), JAG201 clinical trial updates, surprising findings from our study of genetic testing labs, project news, and more.

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Start Genetic is a national movement dedicated to raising awareness about the critical role of genetic testing in helping to accelerate answers for children with developmental delays and unexplained health concerns.

We are pleased to announce the launch of the first-ever license-free, gold-standard SHANK3 mouse model. By Q4 2025, this mouse model's availability will bypass the financial barriers posed by licensing fees. We will soon add a customizable preclinical mouse testing service with a partner CRO.

Combined, these tools will save companies tens of thousands of dollars and up to an entire year of work. Stay tuned for more announcements on this project soon!

Last week, Geraldine Bliss attended the American Society of Gene and Cell Therapy (ASGCT) Annual Meeting in New Orleans on behalf of CureSHANK. Her participation reflects our unwavering commitment to staying at the forefront of research and innovation for the Phelan-McDermid syndrome (PMS) community. ASGCT is the premier international forum for advancements in gene and cell therapy, and Geraldine’s presence ensured that the unique needs of our community were represented in critical conversations. Her key takeaways—from gene editing to emerging delivery strategies—offer an invaluable window into the promising (and complex) path ahead for PMS therapeutics.

Jaguar Gene Therapy would like to inform the Phelan-McDermid syndrome (PMS) community that the JAG201 clinical study record has been published and is now available on ClinicalTrials.gov, a U.S. government website and online database of clinical research studies.

Phelan-McDermid syndrome is highly under-diagnosed, but it is still a #raredisease!

We are happy to support #RareDiseaseDay on this rarest of days, the 29th of February!

Thank you so much to Sugar Land Rotary Club for putting on a wonderful charitable 5k benefitting CureSHANK! Despite the rain and cold, the turnout at Running with a Heart - Sugar Land Rotary 5K near Houston, TX was substantial!

It is a very exciting day for the PMS community: FDA has cleared Jaguar's JAG201 for Phase 1 clinical trials! JAG201 is a gene therapy addressing SHANK3 deletions and variants, which cause Phelan-McDermid syndrome.

On December 1, 2023, CureSHANK announced its Request for Applications (RFA) for the CureSHANK Research-to-Cure Grant: Epilepsy.

Registration is now open for our Fall 2023 Community webinar on Thursday, October 5 at 8pmEST/5pmCST. Please join us to learn about what we have accomplished so far in 2023 (including updates from our recent Epilepsy meeting); what we are planning for the future; and how you can get involved!

This year, we are pleased to be dedicating $450,000 toward several research projects targeting many of Phelan-McDermid syndrome’s most challenging symptoms.

Abby Lievense inspires with her story of resilience and dedication to her son, Darus.

SHANK3 is the most prominent gene in autism patients. It has mutations that range from 1 to 2% among people who have autism spectrum disorders.

SHANK3 is a unique gene responsible for mediating the functions that take place within the postsynaptic densities in excitatory synapses.

We are excited to share the announcement of our first gene-based therapeutic program for Phelan-McDermid syndrome!

CureSHANK is a proud member of COMBINEDbrain a non-profit consortium of 25 patient-advocacy groups, each representing a different rare genetic neurodevelopmental disorder.

SHANK3 is one of the top autism genes! Help us accelerate research by making a donation to CureSHANK in honor of Autism Awareness Month/Day. Thank you!

While rare diseases may impact fewer people than widespread illnesses, they have a major impact on the lives they affect.

Daria - the daughter of CureSHANK’s co-founder Paulina Rychenkova, - is officially a teenager today!

Did you know - only 30% of adults have a seizure emergency action plan, yet 3.5 million Americans have epilepsy?