Scientists
Conferences and Scientific Collaboration
Our conferences are designed to be true bidirectional learning environments. They bring together scientists, clinicians, and families to accelerate discovery while keeping research grounded in real-world impact.
Looking ahead to our 2027 conference, we are actively planning ways to strengthen data collection and scientific engagement, including:
- Structured opportunities for families to contribute updated phenotypic and natural history data
- Better alignment between conference content and ongoing research priorities
- Opportunities for investigators to present early findings, methodologies, and hypotheses
- Mechanisms to spark new collaborations across disciplines and institutions
We warmly invite scientists at all career stages to attend, present, and engage.
Partnership is Core to Our Approach
We actively partner with investigators and laboratories around the world, and we are committed to supporting and engaging all scientists studying 16p11.2 genetic variances.
Our Foundation aims to serve as a collaborative bridge by:
- Connecting researchers with clinicians and families
- Supporting study recruitment and longitudinal data collection
- Helping align research questions with family-prioritized outcomes
- Amplifying and sharing findings across the community
We welcome both established programs and emerging investigators.
Scientific Priorities We are Deeply Invested In
We are broadly interested in research that advances understanding, symptomology, care, and quality of life for individuals with 16p11.2, including but not limited to:
- Translational approaches to gene therapy and gene modulation
- Puberty-related and broader endocrinologic features of 16p11.2
- Immunologic mechanisms and immune-related clinical implications
- Sleep physiology and its downstream neurodevelopmental effects
- Neurodevelopment, learning, and cognitive trajectories
- Mental health and psychiatric comorbidities across the lifespan and prevention
- Speech, language, and motor systems
- Early diagnosis and risk stratification
- Use of artificial intelligence and advanced analytics to improve diagnosis, prognostication, and care
A particular area of interest is the identification of biomarkers that can:
- Help define disease severity
- Track developmental trajectories
- Serve as outcome measures for treatment response and clinical trials
We see this work as foundational to future therapeutic development.
Simons Searchlight Data Repository
We encourage investigators to take advantage of existing high-quality data resources. In particular, Simons Searchlight provides a rich repository of de‑identified phenotypic data and biospecimens that have already enabled major advances in the field. Available biospecimens include whole blood DNA, lymphoblastoid cell lines (LCLs), and induced pluripotent stem cells (iPSCs), with access governed by participant consent and standard data use agreements. We view these shared resources as essential to accelerating discovery and avoiding duplication of effort.
Clinical Research
Our Resource Library is designed to support scientists as well as clinicians. It includes curated literature, summaries of key findings, and cross-disciplinary resources relevant to 16p11.2 genetic variances. This library will continue to evolve as new data and insights emerge