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Dear CureSHANK families, supporters, sponsors, and partners,
In our first newsletter of this new year, we're excited to share with you CureSHANK's 2026 priorities, new executive staff members, a Team CureSHANK LA Marathon update, and two new columns: the CSO Science Corner, in which Dr. Ralf Schmid will discuss and detail PMS news and scientific updates each month, and Resources for Researchers and Companies, a curated list of courses, funding, and research opportunities for those working to accelerate treatments and therapies for PMS and SHANK3-related disorders.
Warmest wishes for the New Year and the year ahead.
With hope and gratitude,
The CureSHANK Team
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Jeff Howard Joins CureSHANK as Executive Director
We are pleased to welcome Jeff Howard as our new Executive Director. With a close personal connection to Phelan-McDermid syndrome, Jeff brings deep leadership experience across autism care, neurodevelopmental services, and mission-driven organizations, including leadership roles with the National Disability Institute, Goally, Ascend Behavior Partners, and iddeate.
Across his work, Jeff has partnered closely with families, clinicians, and researchers to translate complex clinical and policy insights into patient-centered care models, accessible tools, and advocacy strategies that accelerate access to care and research progress. His background includes extensive experience in fundraising, strategic planning, and nonprofit leadership, with a focus on strengthening research and industry partnerships, capacity-building, and advancing efforts that improve the lives of families.
As Executive Director, Jeff is committed to leading with integrity, urgency, and collaboration in support of CureSHANK’s mission to accelerate treatments and improve outcomes for individuals and families affected by PMS and SHANK-related disorders. Jeff holds a bachelor's degree from Webster University, a Master of Professional Studies in Advocacy from The George Washington University, and is completing his M.B.A. from Washington University in St. Louis with an emphasis in Healthcare delivery.
Please join us in welcoming Jeff to the CureSHANK team!
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Dr. Ralf Schmid Named CureSHANK's Chief Science Officer
We are pleased to announce that Dr. Ralf Schmid has assumed the role of Chief Scientific Officer (CSO) of CureSHANK.
As CureSHANK enters an important phase of scientific growth, including the launch of our Accelerator, Dr. Schmid’s leadership will build on our strong foundation and continue to guide our research strategy with rigor and an uncompromising focus on impact for PMS patients. He brings deep industry experience in the development of genetic medicines for rare neurodevelopmental disorders, including Angelman syndrome, CDKL5 Deficiency Disorder, and Rett syndrome.
Dr. Schmid most recently served as Associate Director at Novartis Neuroscience Genetic Medicines, where he advanced genetic therapy programs from discovery through development. Prior to Novartis, he was Research Director at the University of Pennsylvania’s Gene Therapy Program.
We are also deeply grateful to Dr. Ayan Ghoshal for his leadership and scientific contributions to CureSHANK. As Ayan returns to industry full-time, we are pleased that he will continue to support CureSHANK as a scientific advisor.
Dr. Schmid’s appointment marks the next phase of our growth, strengthening our ability to advance meaningful therapies for patients with PMS.
Please join us in welcoming Dr. Schmid to the CureSHANK team!
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New Year, Renewed Focus: What's Ahead for CureSHANK in 2026
CureSHANK’s 2026 Strategic Plan outlines an ambitious, execution-focused roadmap to accelerate the development of effective therapies for Phelan-McDermid Syndrome (PMS). Building on significant momentum from 2025, CureSHANK will concentrate its efforts across three integrated pillars—Accelerate, Collaborate, and Engage.
Accelerate
CureSHANK’s primary focus for 2026 is the launch and advancement of our Accelerator program, targeting investment in one to three high-potential therapeutic approaches (including ASOs, RNA therapies, other genetic approaches, or small molecules) with the goal of stimulating development of new drug programs for PMS. Complementary priorities include the distribution of the CureSHANK-developed SHANK3 mouse model and completing baseline behavioral testing, as well as advancing work to better characterize regression in PMS.
Collaborate
CureSHANK will evolve its pre-competitive consortium model to enable deeper industry participation. Consortium projects are intended to de-risk drug development, reduce duplication, and accelerate shared learning across the field.
Engage
CureSHANK will continue to strengthen trial readiness and awareness by convening the global scientific and patient communities. Key initiatives include hosting the third annual PMS Drug Development Symposium in 2026, expanding genetic testing awareness efforts through Start Genetic, advancing the Burden of Illness study to establish the economic case for PMS therapies, and launching a PMS Physician Referral Network to support future clinical trials. CureSHANK will continue to encourage the development of new PMS drug programs and support the efforts of companies from preclinical development to regulatory approval.
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CURESHANK IN THE NEWS: Geraldine Bliss on SHANK3, Genetic Testing, and Rare Disease Advocacy
Geraldine Bliss, founder of Start Genetic and co-founder and president of CureSHANK, chats with Scott Douglas Jacobsen of A Further Inquiry about her relentless drive to advance SHANK3-related research and access to genetic testing.
Read the article.
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Request for Information (RFI): Innovative Therapeutic Approaches for Phelan-McDermid Syndrome
We are calling academic investigators and biotechnology companies developing therapeutics for neurodevelopmental diseases to submit innovative therapeutic concepts that could be advanced toward clinical development for PMS. Submissions will inform future CureSHANK strategy, including potential funding calls and partnerships, and will enable infrastructure development.
The full announcement and additional information can be found here.
Responses are due by Feb 15, 2026. Inqueries can be submitted to CureShank's Chief Science Officer Ralf Schmid at rfi@cureshank.org.
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UPDATE & INVITATION:
Precompetitive
Industry Consortium
The CureSHANK Industry Consortium seeks to drive innovation through peer idea sharing, enhancing opportunities for peer interaction, leveraging a common platform that addresses member needs in cost effective ways, engaging in opportunities to create and share resources and data for deeper understanding of Phelan-McDermid syndrome(PMS), and advancing the state of PMS research.
The Consortium is currently working on a project with Boston Children’s Hospital and data from the Developmental Synaptopathies Consortium’s Natural History Study to explore outcomes and potential outcome measures specific to PMS.
The Consortium’s goal is to bring the scientific community together in a pre-competitive space to work on common needs so that we can build a community interested in advancing treatments and developing meaningful outcome measures for families. We encourage interested Industry companies to reach out to consortium@cureshank.org to learn more about participation.
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RECAP: #TogetherToday Campaign Raised $110,000+!
The incredible generosity of donors to our #TogetherToday campaign was truly inspiring, and we are deeply thankful to everyone who supported CureSHANK. We raised over $110,000, exceeding our goal of $100,000! We are especially grateful to the generous donors who offered $20,000 and $30,000 donation matches.
The financial support of all our donors makes such a meaningful difference and plays a critical role in advancing our mission. As a direct result of the money raised, we are able to hit the ground running this year to continue to remove barriers, build foundational tools and enable industry-grade research – all designed to ensure the Phelan-McDermid syndrome therapeutic pipeline expands, accelerates, and ultimately delivers safe, effective treatments to our community.
As we begin this new year, we do so with gratitude and optimism, knowing we are backed by a committed and compassionate community. Every contribution, no matter the size, reflects a shared belief in our mission. Thank you for standing with us. Together, we can turn promising science into real solutions for our families – and it starts today.
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“I am growing to like running, and the opportunity to run for Team CureSHANK tipped me over the edge to run a marathon.”
— Mike Sherback
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UPDATE: Team CureSHANK & Runner Spotlight
Each month, we love sharing the stories of the incredible athletes who make up Team CureSHANK— runners who are turning miles into momentum for Phelan-McDermid syndrome (PMS) research. This month, we’re especially proud to spotlight three runners united by family, love, and purpose: Mike Sherback, Henry Tsao, and John Sherback, also known as Team Lily.
Runner Spotlight: Team Lily
Team Lily is running in honor of Mike's daughter, a joyful and determined young girl living with Phelan-McDermid syndrome. Lily's uncles, Henry and John, are running with Mike, a powerful example of family rallying together for hope and progress.
While this is the first marathon for both Mike and Henry, John is a seasoned marathoner who knows the 26.2-mile distance well. When asked what draws him to marathoning, John shared:
“I actually find it relaxing, almost like meditation. There are times that miles seem to go by in an instant.”
Henry fondly recalls running the Golden Gate Half Marathon with friends, a memory that helped inspire him to take on this challenge.
Why We Run: Team Lily
In a recent message to friends and family, Mike shared why this marathon — and CureSHANK’s mission — mean so much to him:
Lily has Phelan-McDermid syndrome, which brings significant challenges in cognition, learning, communication, and sleep. Yet, despite these obstacles, Lily approaches life with genuine happiness and enthusiasm. She is surrounded by a deeply supportive family committed to helping her grow, thrive, and reach her full potential.
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As an active family that loves the outdoors—hiking, swimming, and taking on meaningful challenges together — training for the LA Marathon feels like a natural way to honor Lily’s daily perseverance. Every mile is a tribute to her strength and a step toward better treatments and real hope for families affected by PMS.
Support Team Lily and Team CureSHANK!
Team Lily is running to support CureSHANK’s work advancing PMS research and treatment development. Every donation—big or small—moves the needle closer to breakthroughs for children like Lily.
🔗 Donate and Support Team Lily and Team CureSHANK!
Help all of our runners reach their fundraising goals by donating or sharing their stories. Together, we're running toward a future filled with possibility.
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Start Genetic Seeks 2026 Corporate Sponsors
CureSHANK, the fiscal sponsor of Start Genetic, is seeking corporate sponsors. If your company is developing a treatment for genetically-defined disorders, involved in any aspect of genetic diagnosis, or otherwise involved in rare disease, we’d love for you to join as a sponsor. To learn more, including impact metrics from our inaugural Start Genetic campaign, please see our Sponsorship Guide.
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Therapeutic Strategies: Boosting SHANK3 Expression
Every nerve cell needs two working copies of the SHANK3 gene to function properly. In people with Phelan-McDermid Syndrome (PMS), one copy of this gene is missing or does not work, which reduces SHANK3 protein levels by about 50%. As a shortage of SHANK3 protein disrupts brain function, advanced therapies aim to directly restore normal SHANK3 levels—promising major therapeutic benefits for PMS while minimizing side effects. One advanced therapeutic approach is the use of a gene therapy to deliver an extra copy of SHANK3 to nerve cells. This is the method utilized by Jaguar Gene Therapy in their ongoing clinical trial.
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Another emerging therapeutic strategy to increase SHANK3 levels focuses on upregulating the remaining healthy gene — essentially boosting its output to make more SHANK3 protein naturally. Researchers have explored this strategy already for several years. At the University of Ulm in Germany, Dr. Tobias Böckers’ team discovered a tiny string of genetic building blocks called antisense oligonucleotides (or ASOs) can increase SHANK3 protein production by targeting SHANK3 RNA — the molecule that carries instructions from DNA to make protein. Importantly, this method doesn’t alter the chromosomal DNA itself. While Böckers’ team continues development of ASOs for clinical use, the Australian biotech PYC Therapeutics is preparing to seek FDA approval to test its own ASO version in PMS patients.
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However, ASOs have drawbacks: they must be injected into the spinal fluid repeatedly, and their ability to reach the brain is limited. To overcome this, CureSHANK is exploring small-molecule drugs that bind to SHANK3 RNA to upregulate protein production. These small molecules could potentially penetrate the brain more easily and may even be engineered to be taken orally or through a skin patch. CureSHANK aims to launch a collaboration with academic partners in early 2026 to advance this promising approach.
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JAG201 Gene Therapy Study
Jaguar Gene Therapy seeks children with PMS ages 2-9 years old for an open-label dose escalation study of JAG201 administered via intracerebroventricular (ICV) injection. This is an interventional trial.
Contact a trial site listed below for detailed eligibility requirements.
Seaver Autism Center at Mount Sinai, NYC, NY
Contact: serena.cai@mssm.edu
Principal Investigator: Alex Kolevzon, MD
Rush University, Chicago, IL
Contact: giulia_dimarco@rush.edu or 312-942-9841
Principal Investigator: Elizabeth B Kravis, MD, PhD
Boston Children's Hospital, Boston, MA
Contact: anna.cronin@childrens.harvard.edu or 617-919-3499
Principal investigator: Siddharth Srivastava, MD
Learn more
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PMS Koala Study for NNZ-2591 - Neuren Pharmaceuticals
Neuren Pharmaceuticals' Koala study explores an investigational treatment that may potentially improve symptoms in children with Phelan-McDermid syndrome. The first site is active.
Please email medicalinformation@neurenpharma.com to find out more and see if the Koala study could be a good fit for your child.
Learn more
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Baylor College of Medicine Natural History Study of Epilepsy in PMS
The Baylor College of Medicine Natural History Study of Epilepsy in PMS is an investigational, virtual study open to individuals of all ages with PMS who have epilepsy or a history of seizures. Participation involves allowing the research team to access medical records to collect information such as seizure history, medications, and diagnostic imaging, all of which is kept confidential and de-identified. The goal is to improve understanding of epilepsy in PMS and guide future research and care.
Learn more
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ORTAS Toileting Abilities Survey
COMBINEDBrain seeks parents or caregivers of people with PMS and non-PMS siblings ages 1-6 for a simple, 20-30 minute survey on toileting abilities for a research study.
Contact: ORTAS@combinedbrain.org for participation details.
Learn more
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Lurie Center At Home Sleep Study
The Lurie Center at Mass General seeks children with PMS ages 12-19 for a remote, at-home sleep research study.
Contact: 1+ (617) 917-4395
mghluriecentersleepheadbandstudy@mgb.org
Learn more
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RTI PMS-Specific Endpoint Study
This research study seeks people with PMS ages 3-14 years and caregivers/legal guardians 18+ years for a Caregiver Impression of Change (CIC) form to measure changes in PMS over time.
Contact: Emily Cheves
echeves@rti.org or (919) 698-0439
Learn more
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Jaguar PMS Natural History Study
This research study seeks people with PMS ages 12-36 months old who can travel to one of the sites listed below. Travel stipends may be available through PMSF.
Contacts:
NYC: Icahn School of Medicine at Mt. Sinai
Serena.cai@mssm.edu
Chicago: Rush University Medical Center Madison_t_nava@rush.edu
Boston: Boston Children’s Hospital Anna.cronin@childrens.harvard.edu
Learn more
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Click here
for up-to-date clinical trial
and study information.
| | RESOURCES FOR RESEARCHERS & COMPANIES | |
Apply for Upcoming SPARK-NS Courses
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Apply to attend upcoming SPARK-NS courses (applications close January 15). The course introduces funding opportunity for PIs interested in developing a therapeutic for autism or Parkinson’s disease and covers strategies for moving discoveries from academia to industry for successful drug development.
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For access, contact ozgene@ozgene.com.
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