Scheduling an appointment:

To schedule an appointment in the EpiChroma Clinic, please give us a call through the Boston Children’s Hospital Genetics Clinic at 617-355-6394. Please mention that you are interested in being seen in the EpiChroma clinic.  Clinics are held twice a month on Mondays.


What to expect at your appointment:

Clinic appointments include review of family history, medical assessment, physical examination, genetic counseling, risk assessment, genetic testing, education services and psychosocial support, as appropriate.

Children with epigenetic and chromatin disorders can access specialized care from programs throughout Boston Children’s hospital. Families from far away can use clinic visits as consultations, returning every 12 months or as needed, whilst continuing care with their local team.

To optimize the time during the appointment, we encourage the sharing of medical records and genetic test results ahead of the appointment. This means that less time is required gathering information, which allows more time in the clinic to answer questions and exchange information.

Additional Resources through the EpiChroma Clinic:

Currently there are no targeted therapies for these conditions, however this clinic is passionate about supporting research efforts on disorders involving chromatin and DNA methylation machinery. We have partnered with the Manton Center for Orphan Disease Research to better understand the underlying causes and mechanisms of these disorders. You will be invited to participate in research studies and clinical trials, as they become available. This may include answering surveys and sharing blood and tissue samples for research. There are no medication trials at the moment – currently we are focusing on understanding the biology and progression of these conditions. These are entirely optional components of the clinic.

Medical records can be sent to:

Boston Children’s Hospital
300 Longwood Avenue
Fegan 4
Attn: Dr. Anne O’Donnell
Boston, MA 02115

Phone: 617-355-6394
Fax: 617-730-0466