Our DNA is like an instruction manual for our bodies.

Our bodies are very complicated and so is how our DNA is packaged. This helps it fit in such a small space in our very tiny cells.

Our DNA is wrapped around proteins called histones.

The DNA and histones are tightly packed into a structure called chromatin. The way the body changes chromatin allows us to read our instruction manual properly. The actual writing, reading and erasing of the instructions in chromatin happens through epigenetic machinery.

Genes are the instructions in our DNA that are used to make important substances the body needs. These important substances that tell the body what the genes say are both RNA and protein. Not all of our genes are turned “on” to make RNA and protein at all times. Where and when genes are turned “on” or “off” is very important. This turning on and off of genes must be very carefully regulated. How they are regulated or turned on or off is called epigenetics.

What Is an Epigenetic Syndrome?

Epigenetic syndromes can be caused by a change or misspelling in a gene important in controlling how our genes are turned on and off. These important genes make machinery called epigenetic regulators. Epigenetic regulators control many genes at a time. They do so by changing the level of gene messages available at any given moment. If the epigenetic regulators are not working properly, many genes are affected because they control so many. A change to an epigenetic regulator can affect how someone grows, develops and many other aspects of a person’s life. Some of the common features are learning difficulties, immune system problems, digestive problems, eye problems, growth differences and limb differences.

A Holistic Approach for Epigenetic Syndromes

We provide comprehensive, interdisciplinary care for our patients through collaboration across the institution. Epigenetic syndromes are quite medically complex, making an impact on many parts of the body and aspects of a patient and family’s lives. Our team works together to provide a holistic approach for patient care, providing not only physical care but addressing the emotional needs of patients and families as well.

We invite all patients and families with epigenetic syndromes to participate in our research studies, built directly into our program. Through work with research partners and within the clinic, our database is used to help better understand the natural history of our patients. This understanding will help us care for patients better in the future. Also, it will serve as a rich resource for future drug development and clinical trial implementation.

We hope you will consider us either as an integral part of your child and family’s care or as a consultant and resource for your local medical home. Families also have the option of participating only in the research aspect of our program.

Our program is supported by the Genetics and Genomics Diagnostic Laboratory within the Division of Human Genetics that can efficiently test for these conditions through our in-house whole exome sequencing. If a provider suspects an epigenetic syndrome, we can help facilitate efficient testing and diagnosis.