16p11.2 Genetic Foundation
OUR STORY
The 16p11.2 Genetic Foundation is a nonprofit organization dedicated to improving the lives of individuals and families affected by 16p11.2 genetic variations. Our mission is to advance early diagnosis, coordinated care, and evidence-based treatment by addressing critical gaps in research, clinical guidance, and service delivery.
We work to integrate 16p11.2 conditions seamlessly across healthcare, education, and community systems through a comprehensive approach that includes family support, data collection, and strategic partnerships with leading medical and research institutions. A central focus of our work is the development of specialized Centers of Excellence (COE) to establish standardized care frameworks, improve access to multidisciplinary care, and accelerate clinical and translational research.
By elevating awareness, supporting families, and driving forward innovative models of care, the Foundation is committed to ensuring that individuals with 16p11.2 genetic variations receive timely, coordinated, and lifelong support, ultimately improving outcomes and quality of life for this underserved population.
Mission Statement
Our mission is to treat and integrate 16p11.2 Genetic Variances seamlessly throughout the health, education and societal landscapes by 2030. We do it for our children.
Background Statement
We work toward meaningful change for our children through these four pillars.
1. Convene/Connect
Foster millions affected by 16p11.2 variations to come together for education, support and care regularly.
2. Advance Research
Connect patients with research from basic science to clinical trials of effective medications and multi-gene therapy. Conduct our own research.
3. Drive Better Care
Create Center of Excellence clinics that will not only develop and implement clinical care practices, but also serve to train other physicians.
4. Advocate for Policy
Designated ICD code. Work with policy makers and industry to promote education and understanding of 16p11.2 variations to ease the acquisition of proper care and education for those affected.
Impact Statement
The 16p11.2 Genetic Foundation is dedicated to supporting individuals and families affected by 16p11.2 genetic variances through evidence-based guidance, education, and a strong sense of community. We bring families together through the love we share for our children, fostering inclusivity, vulnerability, and acceptance while recognizing and elevating the strengths and resources within our community. Our commitment to care includes partnering with scientists to drive innovative discoveries and develop effective treatments as well as collaborating with clinicians to build centers of excellence that provide coordinated, high-quality care.
Needs Statement
Help Us Change Lives
Join us in empowering those impacted by a 16p11.2 variant as we focus on raising awareness, creating connections, and advancing research.
16p11.2 variants are caused by a mutation that deletes or duplicates a portion of the 16th chromosome. These variations can cause delays in speech and language development, developmental delays and learning difficulties, increases susceptibility to autism spectrum disorder, low muscle tone causing physical delays and obesity, seizure disorders, and other developmental issues. The syndrome's presentation varies between each individual making diagnosis and universal treatment difficult.
Top Three Populations Served
- All Populations
- Children ages 0-5
- People with Disabilities
CONTACT
16p11.2 Genetic Foundation
5471 Catowba Lane
Irvine, CA 92603
Faranak Herrera
Phone: 5105029267