EpiChroma Cinic

The EpiChroma Clinic at Boston Children’s Hospital is a specialty clinic started by Dr. Anne O’Donnell for children and adults with known or suspected disorders involving the genes that are important for chromatin. DNA in our cells is packaged into chromatin structures to fit into our cells while allowing regulation of which genes are expressed. Pathogenic variants in the genes important for forming chromatin can lead a number of medical problems due to epigenetic dysregulation. Common medical features may include under or over growth, intellectual disability, behavioral issues, and problems with immune function or limb structure. The diagnosis of a genetic condition can leave families and caregivers looking for more information, which is often hard to find for these rare conditions. Through our coordinated clinical network, we strive to provide a clinic where we can work with families to learn more about these conditions and share knowledge. Opportunities to participate in research studies are also offered through this clinic. For a full list of conditions evaluated in the EpiChroma Clinic, please visit our website at http://epichromaclinic.com.