This page is dedicated to the Congenital Heart Disease and Neurodevelopmental Disorders (CHD NDD) research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Congenital Heart Disease and Neurodevelopmental Disorders (CHD NDD) research study, established at Boston Children’s in 2022 and led by Drs. Maya Chopra, Amy Roberts and Lisa Prock, is open for enrollment. So far, over 45 individuals have enrolled and genetic analysis on over 30 patients and their families has been completed.
Disease Information
Congenital heart disease (CHD) is a structural heart difference that develops during pregnancy. Neurodevelopmental disorders (NDDs) encompass a range of conditions including autism spectrum disorder (ASD) and intellectual disability (ID).
It is estimated that up to 20-30% of individuals with both a CHD and NDD may have an underlying genetic cause for their conditions. In her interview on Youtube: Meet rare disease researcher Maya Chopra, MBBS, FRACP, Dr. Chopra discusses her hopes that her research will lead to better diagnosis, care, and understanding of rare genetic syndromes. Learn more about CHD and neurodevelopmental disorders at Boston Children’s.
Key Outcomes
Some key outcomes include diagnostic findings in 8%of participants leading to changes in treatment plans. Research findings have been identified in many more individuals and are now being further evaluated , including variants in candidate genes and novel variants in established disease genes. This article highlights the research aimed at understanding if certain genes cause both NDDs and CHD.
Genes of Interest
ACTB ATM ARHGAP6 BRIP1 CABIN1 CHD2 CHD3 DYNC1H1 EP400 GIGYF1 GRINA MUTYH MYBPC3 MYOC MYRF PRKD2 SAMD4B TRRAP
Participate in Research
Physicians may refer their patients with diagnoses of both CHD and NDD to Drs. Chopra, Roberts, or Prock. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their studies, including the CHD NDD study, on Dr. Chopra's research profile, Dr. Roberts' research profile, and Dr. Prock's research profile.
Patient Care
Patients and their families with CHD and NDD can be seen by an expert multidisciplinary team in the Cardiac Neurodevelopmental Program at Boston Children’s. Learn more about CHD and neurodevelopmental disorders.
Investigators
Divisions
Notable Publications by Investigators
- ANKRD17-Related Neurodevelopmental Syndrome.
- Toward representative genomic research: the children's rare disease cohorts experience.
- Clinical variants paired with phenotype: A rich resource for brain gene curation.
Disease Support Organizations
Autism Society of America
Autism Society of America is a nonprofit organization dedicated to improving the lives of individuals with autism and their families through advocacy, education, information, and support.
CHADD
CHADD is a nonprofit organization that provides education, advocacy, and support for individuals affected by ADHD to help them thrive.
Conquering CHD
Conquering CHD is a nonprofit organization committed to providing knowledge, support, and resources to individuals and families affected by congenital heart disease.
Kids With Heart National Association for Children’s Heart Disorders
Kids With Heart is a nonprofit organization offering support, education, and awareness for families and individuals affected by congenital heart defects.
National Autism Association
National Autism Association is a nonprofit organization focused on providing resources, education, and advocacy to support individuals with autism and prevent wandering-related incidents.
Profound Autism Alliance
Profound Autism Alliance is a nonprofit organization dedicated to advocating for and supporting individuals with profound autism and their families.
The Arc
The Arc is a nonprofit organization that promotes and protects the rights of people with intellectual and developmental disabilities through advocacy and support services.
The Autism Project
The Autism Project is a nonprofit organization that provides education, training, and support for individuals with autism, their families, and the professionals who work with them.
The Children's Heart Foundation
The Children's Heart Foundation is a nonprofit organization dedicated to funding research and advancing the diagnosis, treatment, and prevention of congenital heart defects.
The Mended Hearts, Inc.
The Mended Hearts, Inc. is a nonprofit organization providing peer support, education, and encouragement to heart disease patients and their families.