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Cornelia de Lange Syndrome and Related Disorders: From Gene to Disease

The Cornelia de Lange Syndrome and Related Disorders Clinic is pleased to announce a collaboration with the Precision Link Biobank for Health Discovery and Children’s Rare Disease Cohorts to develop a biorepository study designed to examine CdLS and related disorders on phenotypic (observable traits) and molecular levels. With your participation in this study, we aim to improve the clinical management of CdLS and related disorders and shed light on future treatment options.

Who is conducting this study?

Dr. Philip Boone, co-director of the CdLS and Related Disorders Clinic, is the principal investigator. Dr. Boone and his study team are also working with the Precision Link Biobank and Children’s Rare Disease Cohorts (CRDC) to provide the most comprehensive study possible. As the natural history of these diseases is not fully known, we hope to create a path for other approved investigators to explore their own hypotheses about the mechanisms and potential therapeutics for this group of genetic disorders.

What is a biorepository study?

A biorepository study refers to the collecting of samples, many of which will be stored for future experimentation by approved researchers. While Dr. Boone and his team will be using some of these samples in their lab work, an aim of this study is to facilitate widespread investigation into CdLS and related disorders by approved researchers across the world. We believe that such collaboration is essential to make the scientific advances necessary to understand and treat these disorders.

What do I have to do for this study?

When you consent to this study, you will be asked for permission for our team to collect a saliva sample and access to information in your/your child’s medical record. Other samples we are interested in collecting, which you may opt in to providing, include (but are not limited to) a blood sample, a skin biopsy sample, and extra tissue samples from routine procedures. You may also be asked to answer some surveys about your family and child’s medical history. By consenting to this study, you also consent to the Biobank’s study.

How long will this study take?

It will take about two to four hours to complete this study and may be completed at the time(s) most convenient for you and your family.

Who is eligible for this study?

We are looking for research participants with Cornelia de Lange syndrome and/or genetic changes in the following genes: ANKRD11, BRD4, CTCF, ESCO1, ESCO2, ESPL1, HDAC8, LEMD2, LMNB1, MAU2, NAA10, NIPBL, OTUD5, PDS5A, PDS5B, RAD21 (SCC1), REC8, SATB2, SGO1, SMC1A, SMC3, STAG1, STAG2, STAG3, WAPL, and YY1. If you or your family member has Cornelia de Lange syndrome and/or a genetic change (variant, mutation, deletion, or duplication) in one of these genes you may be eligible to participate in this study.

How can I learn more about this study?

To learn more about this study, please contact 617-919-6299 or email