Each month, we're proud to share the latest resources, participation opportunities, and advancements in science. This month’s edition is packed with updates that reflect the momentum building in our community, such as: LA Marathon 2027, Caregiver Milestone Study updated eligibility criteria, how biomarkers can inform therapy development for Phelan-McDermid syndrome, and more.

Current biomarker assessment tools for neurodevelopmental diseases like PMS can be imprecise and subject to bias, making it harder to objectively measure a treatment's impact. CureSHANK is actively working with expects to evaluate promising biomarker approaches that will provide more accurate and objective measurements for PMS research.

Each month, we're proud to share the latest resources, participation opportunities, and advancements in science. This month’s edition is packed with updates that reflect the momentum building in our community, such as: PMS Prevalence Tracker, Genetic Testing Action Day 2026 impact, multiple PMS drug programs in development, and Jaguar Gene Therapy updates.

There are currently four Phelan-McDermid syndrome drug programs that are now in or approaching human trials simultaneously. In this month’s CSO Science Corner, Dr. Ralf Schmid shares how this is a deliberate strategy to maximize chances that at least one program reaches the families who need it.

A landmark study has revised the estimated prevalence of Phelan-McDermid syndrome to 1 in 7,300. And the findings carry urgent implications for families, clinicians, and the future of genetic diagnosis.

A new study led by researchers at the Seaver Autism Center at Mount Sinai has dramatically revised what we know about how many people are affected by Phelan-McDermid syndrome. Analyzing data from nearly 180,000 individuals with autism across ten independent sources, researchers estimated a prevalence of approximately 1 in 7,300. This means that more than 45,000 Americans may be living with PMS today. Thousands remain undiagnosed.

Read about the latest news from Jaguar Gene Therapy, including trial progress for the JAG201 Gene Therapy Study and new eligibility criteria for the PMS Caregiver Milestone Study.

Each month, we're proud to share the latest resources, participation opportunities, and advancements in science. In this month's issue, as we count down to Genetic Testing Action Day on July 25th, our CSO Ralf Schmid highlights why comprehensive genetic testing is critical for individuals living with PMS. We're also sharing new Koala Study locations, the Genetic Testing Action Day Social Media Toolkit, and an opportunity to honor PMS loved ones through our PMS Birthday Club.

In order to get an accurate diagnosis for children with developmental delays, autism, intellectual disability, epilepsy, and other neurodevelopmental conditions like PMS, whole genome sequencing remains the most comprehensive genetic testing method available. However, families are not always referred to or offered this option. CureSHANK urges all genetic testing providers to ensure their testing platforms include complete SHANK3 coverage.

As an organization led by Phelan-McDermid syndrome parents, we know that our movement wouldn't be here without the love, hope, and drive of PMS caregivers and advocates. This month, we're proud to offer multiple opportunities for caregivers and advocates to share their insights and to celebrate their loved ones.

In this issue, our CSO Ralf Schmid shares highlights from the 2026 ASGCT Annual Meeting, where gene therapy for brain diseases made major strides. We're also celebrating the launch of the Start Genetic Community Newsletter, spotlighting Genetic Testing Action Day on July 25th, and featuring new research participation opportunities, including the PMS Caregiver Milestone Study.

At the 2026 ASGCT Annual Meeting, gene therapy for brain diseases took center stage with a landmark clinical update for Dravet syndrome and promising results for conditions similar to PMS. Our CSO breaks down what happened, what it means, and what still stands in the way.

Caregivers of individuals with Phelan-McDermid syndrome (PMS) are invited to participate in an online research study of developmental milestones. Participation is remote and compensation may be provided for completing study-related surveys (up to $1,000).

This month, we're sharing key updates from across the CureSHANK community — from highlights of our 3rd annual PMS Drug Development Symposium to new research, clinical opportunities, and the first-ever Burden of Illness Study. Together, these efforts reflect growing momentum toward better understanding PMS and accelerating meaningful progress for individuals and families.

We are heartened to see the scientific community, PMS families, and patient advocates united by a shared mission to bring life-transforming therapies to individuals affected by PMS.

As always, get the full story here.

New findings suggest that Phelan-McDermid Syndrome is nearly twice as common as previously thought — and the reason comes down to a critical flaw in how genetic testing has long been conducted. Read on to learn more about how accurate prevalence data is the key to meaningful improvements in care, research, and therapy development.

CureSHANK’s 3rd annual Phelan-McDermid Syndrome Drug Development Symposium brought together researchers, clinicians, industry leaders, and families for two days of remarkable science, community, and hope. Read on for key takeaways and insights that will shape the future of PMS drug development.

This month, we’re seeing continued momentum across the PMS and SHANK3 community—from new therapeutic programs advancing toward the clinic to growing opportunities for collaboration at our upcoming 2026 Drug Development Symposium this April in New York City.

We’re also highlighting important community-driven efforts, including our first-ever PMS Burden of Illness Study, which aims to better understand and quantify the lived experience of families, alongside updates from recent research milestones and the incredible impact of Team CureSHANK at the L.A. Marathon.

Together, these efforts reflect the strength of this community and the progress we’re driving toward meaningful treatments.

As always, get the full story here.

This month, we’re sharing meaningful momentum across the PMS and SHANK3 community. From the launch of the first gene therapy clinical trial for SHANK3 deficiency to new tools accelerating therapeutic development — including our newly developed SHANK3 mouse model — progress is underway on multiple fronts. We’re also looking ahead to our third annual PMS Drug Development Symposium this April in New York, where leaders in science, industry, and investment will come together to move the field forward.

You’ll also find updates from Rare Disease Day at NIH, opportunities to support Start Genetic and Team CureSHANK at the L.A. Marathon, active clinical trials and research studies, and new funding opportunities for researchers and companies working to advance treatments.

As always, get the full story here.

In April 2026, CureSHANK will convene the Phelan-McDermid Syndrome Drug Development Symposium 2026, a two-day, in-person meeting focused on accelerating therapeutic development for Phelan-McDermid syndrome (PMS).

Learn more here.

Many families have questions following recent news coverage about the first clinical study of a gene therapy targeting SHANK3 deficiency (Phelan-McDermid syndrome). We encourage families and caregivers to review Jaguar’s FAQ for additional information. Learn more here.

Last month, we shared our plan to Accelerate, Collaborate, and Engage in 2026. In this issue, we're up and running — literally — with updates on Team CureSHANK's L.A. Marathon training (which you can support here), our therapeutic approaches to PMS RFI, conferences we'd love to connect at, dates for our third annual PMS Drug Development Symposium, and new resources for researchers.

As always, get the full story here.