Resources

This is your starting point to learn about the genetic disorders that Simons Searchlight studies. We regularly update these pages with new research and information for families.

Here’s an overview of the type of information you’ll find here:

Frequently Asked Questions: Learn more about Simons Searchlight, research participation, and account registration.
What We Study: Information about the genetic variants that we study.
Genetics FAQ: Background information you need to understand your genetic lab reports. We review chromosomes, genes, copy number variants (CNVs), genetic variants in a person’s DNA code, and more.
What Is Autism? Information about the features of autism spectrum disorder.
Researcher Profiles: Interviews with researchers who have used Simons Searchlight data.
Guardianship Resources: Information about guardianship and continuing research participation into adulthood.
A Family Guide: Navigating Life After a Rare Genetic Diagnosis: This comprehensive guide walks families through the steps from receiving a diagnosis to finding resources and potential support systems.
Navigating the World of Rare Disorders: Resources to help you begin to adjust to your child’s diagnosis.
Organizing Medical Records: Information on ways to create and maintain a personal medical file.
Data Sharing: Resources on how to share your information with a data registry and what to expect.
Librarey: Created to help families find what they need more easily, Librarey was built from Sierra Phillips’ Disability Resource Guide. It is a search-based platform that brings rare families and researchers together towards the common goal of new treatments.
Courageous Parents Network: Courageous Parents Network is a non-profit organization that equips and empowers parents and caregivers of children with serious medical conditions through a range of resources and tools. These include videos, podcasts, printable guides, Guided Pathways, and blogs, offering insights and perspectives from both families and pediatric clinicians.