Rapidly Evolving Opportunities for Treatments for Rare Genetic Diseases

Quick Overview

Dr. Wendy Chung presented at the 2022 FAST Science Summit on the rapidly evolving opportunities for treatments for rare genetic diseases. She discussed the progress made in diagnosing and treating conditions like Angelman syndrome and highlighted the importance of early diagnosis. Dr. Chung also shared her work on the Guardian project, which aims to use whole genome sequencing to identify rare genetic conditions in newborns. The project has seen a high uptake rate among parents and has the potential to significantly improve outcomes for affected individuals. Dr. Chung emphasized the need for collaboration and continued research to develop effective therapies for rare genetic diseases.


The 2022 FAST Science Summit has been a remarkable event, filled with informative talks and exciting discussions. As we approach the final day of the summit, I want to express my gratitude to the entire community for their dedication to advancing transformative treatments for individuals with Angelman syndrome. I am proud of the progress we have made in such a short period of time, and I want to thank all the sponsors and the FAST Board of Directors for their support in making this event possible.

The Importance of Early Diagnosis

Knowledge is power, and it is crucial for parents, caregivers, and families to ask questions and seek understanding. The decisions you make for your child and loved one in the next few years are significant, and it is essential that you have the information and resources to make informed choices. Don’t hesitate to ask questions and seek guidance, as it is your right to have a say in the decisions that affect your child’s life.

The Role of Genomics in Rare Genetic Diseases

Dr. Wendy Chung, a clinical molecular geneticist at Columbia University, delivered a keynote speech on the rapidly evolving opportunities for treatments for rare genetic diseases. Dr. Chung is a national leader in the field of genomics and has dedicated her research to understanding neurodevelopmental disorders, including Angelman syndrome.

Dr. Chung discussed the importance of early diagnosis in rare genetic conditions and the need for precision medicine. She highlighted the role of genomics in identifying genetic variants and understanding the underlying biology of these conditions. Through research programs like SPARK (Simon’s Foundation Powering Autism Research for Knowledge), Dr. Chung and her team have been able to identify new genes associated with neurodevelopmental disorders and gain insights into potential treatment options.

The SPARK Cohort and Clinical Trial Readiness

Dr. Chung emphasized the significance of the SPARK cohort, which includes over 100,000 individuals with autism and related neurodevelopmental disorders. This large-scale research initiative has provided valuable data on the biology and natural history of these conditions. Dr. Chung also discussed the importance of clinical trial readiness and the need for standardized outcome measures to assess treatment efficacy.

The Guardian Project: Genomic Uniform Screening for Newborns

Dr. Chung introduced the Guardian project, a groundbreaking initiative aimed at early diagnosis and treatment of rare genetic diseases in newborns. The project utilizes whole genome sequencing on newborn screening blood spots to identify genetic variants associated with these conditions. By diagnosing and treating these conditions early, the Guardian project aims to improve outcomes and provide timely interventions for affected individuals.

Dr. Chung highlighted the success of similar initiatives, such as the implementation of newborn screening for spinal muscular atrophy (SMA). Early diagnosis and treatment have transformed the lives of individuals with SMA, and Dr. Chung believes that a similar approach can be applied to other rare genetic diseases, including Angelman syndrome.

Challenges and Opportunities in Rare Genetic Diseases

Dr. Chung acknowledged the challenges in developing treatments for rare genetic diseases, including the need for targeted delivery mechanisms and adaptive trial designs. She emphasized the importance of collaboration and the sharing of knowledge and resources within the scientific community.

Dr. Chung also addressed questions about the increasing prevalence of autism and the role of genetics in understanding its causes. She explained that while the number of autism diagnoses has increased, it is primarily due to improved diagnostic criteria and increased awareness. Dr. Chung highlighted the importance of early diagnosis and access to educational and support services for individuals with autism.


Dr. Wendy Chung’s keynote speech at the 2022 FAST Science Summit shed light on the rapidly evolving opportunities for treatments for rare genetic diseases. Through initiatives like the Guardian project and the SPARK cohort, Dr. Chung and her team are paving the way for early diagnosis and precision medicine in rare genetic conditions. With continued research and collaboration, there is hope for improved outcomes and transformative treatments for individuals with rare genetic diseases.

Talk details

  • Title: Rapidly Evolving Opportunities for Treatments for Rare Genetic Diseases
  • Author(s): Wendy Chung
  • Author(s)’ affiliation: Columbia University
  • Publication date: 2022-12-03
  • Collection: 2022 FAST Science Summit