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CureSHANK is relentlessly focused on turning promising science into life-transforming therapies for Phelan-McDermid syndrome.

10/13/2026

❗️REMINDER❗️

Help Advance Research in Phelan-McDermid Syndrome - Milestone Survey

Caregivers of individuals with Phelan-McDermid syndrome (PMS) are invited to participate in an online research study of developmental milestones.

This research study aims to better understand how developmental milestones, or skills, change over time in individuals living with PMS. Understanding how skills are gained, lost, or regained helps researchers better understand PMS. The input from this study may help inform further research and potential treatments in the future.

Fully Remote Participation. All study activities take place online. Surveys can be completed from home and saved to finish later at your convenience.

You May Qualify If:
☑️ You are an adult and are a caregiver of someone with Phelan-McDermid syndrome
☑️ You are willing to complete an online survey at three time points over the next 12 months
☑️ You are willing to share developmental milestone information and documentation when available
☑️ Your loved one is between ages 2 and 30
☑️ You can complete surveys in English

Final eligibility will be determined by the study team based on study requirements.

Learn more about the study and check your eligibility: https://www.pmscaregiverstudy.com/?utm_code=pag_cureshank&utm_source=facebook&utm_campaign=launch_2026&utm_content=version_a

10/12/2026

Now Live: Geraldine’s interview with GeneDx!

Earlier this week, we shared that CureSHANK Founder and President Geraldine Bliss spoke with Gene Dx’s Annie Arnold and Dr. Tommy Martin at the American Academy of Pediatrics National Conference.

🎥 Now you can catch the full conversation on YouTube: https://www.youtube.com/watch?v=dU-aBtINYxk

Geraldine shared her son Charles’ diagnostic odyssey, emphasizing how an earlier genetic diagnosis could have changed the progression of his disease.

Her family had to wait 7 years. Her wish is that no family has to wait that long to get answers.

Today the American Academy of Pediatrics recommends exome or genome sequencing as a first-tier test for children with global developmental delay. These recommendations empower pediatricians to take the lead in recommending and ordering genetic testing, helping more children and families get the answers they need.

For Geraldine and Dr. Tommy Martin’s families, a genetic diagnosis gave them clarity, community, and a care roadmap. Their hope is that every rare disease family gets access to early genetic testing.

Thank you to GeneDx for hosting and uplifting this important conversation. Together, we can ensure that more families get answers and guidance earlier.

GeneDx

10/10/2026

📝 Participate in Active Clinical Research Study

Testing a Novel Device to Study Sleep at Home in Children with Profound Autism

�The purpose of this study is to validate the use of a wearable, at-home EEG device to measure sleep in individuals with profound autism/cognitive impairment. This population has been historically excluded from autism sleep research due to challenges with the lab setting, despite interrupted sleep being a frequently reported challenge.��

Study Type: Research study�
Age Range: 12-19 years old
�Location: Boston, MA + Remote Option��

Eligibility criteria: Individuals with a Phelan-McDermid syndrome diagnosis that struggle with interrupted sleep. It is not necessary for participants to have an autism diagnosis. Participants may be diagnosed with seizures, but seizures must be currently controlled. Participants may not have additional neurological disorders besides PMS. ��

Contact the study coordinator at mghluriecentersleepheadbandstudy[at]mgb[dot]org for details and participation information.
MGH Lurie Center for Autism

For more info: https://buff.ly/q2foNFj

10/09/2026

🔬CSO Science Corner | Connecting PMS Communities Across Continents: A Visit to China

Our CSO Ralf Schmid recently traveled to China, where he spent a week connecting with scientists, clinicians, business leaders, and PMS families. The visit was centered around the Chinese Society for Cell & Gene Therapy (CSGCT) Scientific Meeting in Beijing.

While abroad in China, Ralf also connected with a Chinese rare disease nonprofit called Hope for Rare, a local PMS parent leader, and a group of parents. These experiences reinforced one of CureSHANK’s broader goals: ensuring that PMS precision medicine advances reach families worldwide.

��In this month’s CSO Science Corner, get an inside look at the lessons, insights, and opportunities from Ralf Schmid’s visit -- including more information about an upcoming partner conference with CureSHANK and Asia-Pacific organizations dedicated entirely to PMS.

��Read the full post: https://cureshank.org/news/connecting-pms-global-communities

10/08/2026

🎂 Happy Birthday, Eryk!! 🎂

Join us in sending Eryk some birthday wishes!! A little bit more about Eryk: his favorite birthday treat is dark chocolate and his favorite birthday gift is anything music related.

We hope Eryk and his family are having a fun day filled with all of his favorite birthday treats in honor of his special day!

In honor of his birthday, Eryk's family shared this special message: “May your days be filled with love and blessings.”

Send some birthday greetings to Eryk in the comments. Happy birthday, Eryk!

Ania Sowińska

10/08/2026

📢 Calling all PMS Caregivers: Share Your Story With Us!

We invite you to record some quick video clips about your experience, your hopes, and your message to other families.

Earlier this week, we shared how Geraldine Bliss' personal story made a meaningful impact at the annual American Academy of Pediatrics Conference. Now, it's your chance! Your story has the power to reach other PMS families, encourage researchers and clinicians to make scientific advancements, and empower the PMS community.

Your responses may be featured on our social media channels and other CureSHANK-related digital media with your permission.

Share your story today: https://storyprompt.com/reply/XkAW4fhI6XYDLV3xRaJQ

10/07/2026

New Resource: What is PMS? Flyer

We're happy to announce a new resource now available for download from our website! The "What is PMS?" flyer shares essential information about PMS, including the latest information about prevalence and treatment development.

Learn more and download the flyer today at cureshank.org/about-pms

Share this resource with your community to raise awareness about PMS and share the importance of accelerating the path toward treatments.

10/06/2026

This past weekend, CureSHANK Founder and President Geraldine Bliss attended the American Academy of Pediatrics in San Diego!

At the GeneDx booth, Geraldine joined Dr. Tommy Martin to share their personal stories about genetic testing with GeneDx’s Annie Arnold. Both stories emphasize the importance of early genetic testing so families can get connected with answers, community, and a path forward.

Personalized stories like Geraldine’s and Dr. Tommy’s connect on a deep level with individuals and inspire families, industry, and researchers to take action.

It’s also what drives CureSHANK’s mission forward. Earlier genetic testing and diagnosis help connect PMS families with resources and help accelerate PMS research and treatment development.

Thank you, GeneDx, for inviting CureSHANK to be part of this important discussion!

GeneDx
Dr. Tommy Martin

10/06/2026

Happy October! Check your inboxes for the latest news from CureSHANK!

This month, we share how CureSHANK continues to be at the forefront of PMS research and treatment development.

In this month’s edition:�
📚 An opportunity to share your story about your PMS loved one
�🗓️ PMS Awareness Day on October 22nd�
🧬 An inside look into our CSO’s experience at the Chinese Society of Gene & Cell Therapy�
🎤 Upcoming CureSHANK event appearances
💸 New funding opportunity with the SPECTRA Program

��Read this month’s issue: www.cureshank.org/news/cureshank-community-news-october-2026

If something resonates, share it with your community. Every post helps us reach more PMS families.

10/01/2026

Phelan-McDermid Syndrome Awareness Day is October 22nd!

Join us in raising awareness for PMS Awareness Day later this month. Start today by downloading this year's photo frame from our website!

Visit cureshank.org/pmsad to learn more and download the frame.

Thank you for being part of our community and helping to increase global awareness of Phelan-McDermid syndrome.

Address

11777 San Vicente Boulevard, Suite 500
Los Angeles, CA
90049

Website

http://www.cureshank.org/

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