16p11.2 Genetic Foundation
PROGRAMS
16p CARE Program: Clinical Advancement, Research, and Education
The 16p CARE Program is part of the Foundation's "Drive Better Care" pillar. It brings together clinical care, research, and clinician education to develop best practices for individuals with 16p11.2 variants. The program also engages families as partners, helping them understand the value of research participation and the important role they play in advancing care for their children.
The program will provide coordinated, specialized care for individuals with 16p11.2 variants and expand access to that care through additional clinical sites. Insights gathered through care will inform formal clinical guidelines, and the program will train and support the physicians who care for this population. It will also help families navigate insurance and access to services, and work to improve how 16p11.2 is recognized and tracked within the healthcare system. Together, these efforts create a more connected, informed, and family-centered model of care.
Family, Clinician & Community Education
The Foundation creates practical, evidence-based educational resources for families, schools, clinicians, and the broader 16p11.2 community. Offerings include webinar series, family and clinical resources, and the Foundation's resource library. The Education Department also works closely with educators and healthcare professionals, so they have the knowledge to support individuals with 16p11.2.
The Foundation will develop guidance and tools that help schools and educators better support students with 16p11.2. Clinical and educational guidelines will be shared with families and the medical community in accessible formats. The Foundation will continue expanding its webinars and resource library, improving access to reliable information and reducing fragmented care through shared knowledge.
Research & Scientific Collaboration
Research is one of the Foundation's four core pillars. The Foundation connects patients with research opportunities ranging from basic science to clinical trials, and coordinates research with universities and pharmaceutical partners. This includes a quarterly 16p11.2 Seminar Series hosted with leading academic research centers. Looking ahead, the Foundation is committed to supporting the development of treatments that address the effects of 16p11.2 variants, with a long-term goal of therapies that target the underlying cause
The Foundation will advance clinical trials that evaluate potential treatments for the effects of 16p11.2 variants. It will support dedicated research into the medical, developmental, and communication challenges associated with 16p11.2, and gather real-world insights directly from families. Through partnerships with universities, hospitals, and pharmaceutical companies, the Foundation will strengthen scientific collaboration and share emerging findings with researchers, clinicians, and the community. Together, these efforts build the scientific foundation for future therapies, including gene therapy.
16p11.2 Conference
In 2025, the Foundation hosted its inaugural 16p11.2 Deletion Conference, bringing families, clinicians, and researchers together for shared learning, practical guidance, and connection. Sessions covered the latest research, clinical care, and support across the lifespan. The next conference, planned for Summer 2027, will be the first to welcome both the 16p11.2 deletion and duplication communities.
The conference will unite the deletion and duplication communities, connecting families, clinicians, and researchers through research updates, clinical discussion, and practical guidance. It will make attendance more accessible for families and serve as a hub for research engagement. Conference materials will be shared afterward to extend its reach, strengthening connection and collaboration across the entire 16p11.2 community.
CONTACT
16p11.2 Genetic Foundation
5319 University Dr
Unit #780
Irvine, CA 92612
Faranak Herrera
Phone: 949-522-5008