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.
- Related: “Your Questions About Autism, Answered”– SPARK, our companion study, offers clear answers to commonly asked questions about autism and includes a curated list of trusted resources.
Researcher Profiles: Interviews showcasing the important progress carried out by researchers using Simons Searchlight data.
Leading the Way Interviews: Interviews highlighting the inspiring work of patient advocacy group (PAG) community leaders.
Guardianship Resources: Information about guardianship and continuing research participation into adulthood.
Family Guides:
- 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.
- A Family Guide: Understanding Genetic and Clinical Diagnoses: This lay-friendly guide helps families understand the difference between clinical and genetic diagnoses.
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.
Multi Sensory Educational Materials: We’ve linked to a variety of multisensory educational resources designed to support diverse learning styles. These tools can help integrate multiple senses—such as touch, sight, and sound—into educational activities. For personalized guidance and tailored strategies, occupational therapists are the best resource to provide expert support in this area.
15 Year Anniversary Postcard: We’re thrilled to celebrate 15 years of progress together! Download, save, or print this postcard to mark the occasion and celebrate with us.
Educational Videos: Visit our YouTube channel to learn a variety of topics such as how to stay engaged in research, family stories and researcher profiles.