Research
Current Research
Cornelia de Lange Syndrome and Related Disorders: From Gene to Disease STAG1 Natural History Study
The Cornelia de Lange Syndrome and Related Disorders Clinic is pleased to announce a new study aimed at understanding the nautral history of STAG1-related disorder. This study is in 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 understand the associated phenotypes at various stages of life in individuals with STAG1-related disorder and improve the clinical management for this condition.
Who is conducting this study?
Dr. Philip Boone, co-director of the CdLS and Related Disorders Clinic, is the Principal Investigator of this study. 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 STAG1-related disorder 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 to answer some surveys about your child family and child’s medical history. Our team may also request access to you or your child’s medical record. In the future, we may request permission for our team to collect a saliva sample . Other samples we may be 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. By consenting to this study, you also consent to the Biobank’s study (please click here for more information).
How long will this study take?
It will take about 2-4 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 STAG1-related disorder.If you or your family member has STAG1-related disorder due to a genetic change (variant, mutation, deletion, or duplication) in this gene 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 our study team member, Rachel Gottlieb, at Rachel.Gottlieb@childrens.harvard.edu or call +1 (617) 355-6316.
Scientists at Boston Children’s Hospital are looking for research participants with STAG1 gene changes (variant, mutation, deletion, or duplication) for a biobanking study. Study is currently limited to individuals who have already had a skin biopsy obtained as part of a previous clinical or research study. If you would like to learn more, please contact study coordinator Emeline Kao at cdlsresearch@childrens.harvard.edu.
Research Goals
Consistent with the lack of visibility for STAG1 syndromes, however, active research on the STAG1-specific cohesinopathy is limited. Our goal is to recruit clinicians and scientists already active either directly with STAG1 or on STAG1-adjacent disciplines (i.e. Cornelia de Lange) to form our Medical and Scientific Advisory Board. The MSAB will be able to evaluate patient data from the medical registry to recommend treatment as well as identify areas in need of active research. The STAG1 Gene Foundation will work with the MSAB to identify scientific groups with the capabilities to perform research in these recommended areas.
Registry / Natural History Study
Advancing medical research is another goal for our organization. As the first and only organization for STAG1, we have a unique opportunity to collect patient data and begin a registry. By collecting patient data on the phenotypic features, as well as the prevalence and demographics of STAG1, we can better characterize this syndrome. Compiling the clinical and social facts of those affected with STAG1 gives our population a broader representation. We can begin to paint a clearer picture of this diagnosis and equip parents with the knowledge needed to make informed decisions on their child’s well-being. Also, we would like to create a long-term natural history registry. This would be powerful in encompassing all the aspects of living a full life for STAG1 individuals and is critical as the foundation of data required for drug development.
Scientific & Medical Articles
- A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report
- STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
- Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
- Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
- Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype
- P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections
- A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity