Brief Title
Gene Discovery Core, The Manton Center
Protocol ID
NCT02743845
Lead Sponsor
Boston Children's Hospital
Brief Summary
The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston
Children's Hospital studies families with rare, poorly understood or undiagnosed, but
suspected genetic conditions. The primary goal of the research is to better understand
the genes and proteins (gene products) involved in rare diseases. The researchers hope
that our studies will allow for improved diagnosis and treatment of individuals with rare
disease in the future. Individuals with any rare/undiagnosed condition are eligible to
enroll.
Enrollment includes:
- Providing DNA and tissue samples (when available)
- Access to participants' medical records
- Access to genomic data (when available)
Samples are used for genetic analysis (primarily exome and genome sequencing or
reanalysis) to identify the genetic cause for the individual's illness. Individual
research results are returned to families through their health care provider after
confirmation in a clinical lab. If a cause is identified, that can be reported back to
the family through their health care provider and the study's genetic counselor. When
possible, the investigators also collect samples from parents and full-siblings as well
as any other affected family members.
Detailed Description
Participants may be recruited from Boston Children's Hospital (BCH) or from off-site
collaborators/healthcare providers who determine a participant as eligible. Participants
may also contact the lab directly after hearing about the research through other
individuals, recruitment materials, or the study's website
(www.childrenshospital.org/mantoncenter). After consenting to participation, individuals
with rare disorders with a suspected, but unknown/poorly understood genetic basis, and
their family members are asked to participate in the study by providing 1) relevant
medical information/records and family history 2) a blood/saliva/DNA/RNA sample, and 3)
preexisting tissue samples (including preexisting prenatal samples) that is no longer
needed for clinical care (if available) or future tissue sample specifically for research
purposes.
The medical records and family history allow the investigators to gain a better
understanding of the specific disease symptoms seen in an individual or family. The
blood/saliva sample is used to obtain DNA and/or RNA, and/or other biochemical which can
then be analyzed for identifying the genetic bases of disease pathophysiology using
various approaches including genomic sequencing. Tissue samples obtained from individual
participants are employed to better understand gene expression and protein interactions
through investigations such as (but not limited to) immunohistochemical and microarray
analysis.
This study project will be ongoing for an indefinite period of time, and participation is
continuous unless an individual requests to be removed from the study. Participants can
request to withdraw at any time. Active participation primarily takes place at the time
of enrollment and on a case-by-case basis thereafter for providing clinical updates
and/or additional samples. Risks include those associated with routine blood draws/saliva
sample collections and emotional distress associated with genetic and/or medical
research. Risks are minimized as much as possible by an open consent process and
privacy/confidentiality safeguards, including a certificate of confidentiality from the
NIH and the use of de-identified, numerical codes to refer to participants with
collaborators. Although there are no immediate, direct benefits to participants, the
possible benefits of this study include the development of new diagnostic tests and more
detailed prognostic information for participants and their families. In addition, this
study may lead to a better understanding of the pathophysiology of these conditions,
leading to the development of treatments and cures for both rare and more common
disorders in the future.
Enrollment Count
10,000 participants
Eligibility Criteria
Inclusion Criteria:
- Having a known or uncertain rare diagnosis which may have a poorly understood
genetic component and/or be a relative to a person with such a diagnosis
Exclusion Criteria:
- Not having such a diagnosis and/or not being related to such an individual
Filters
Undiagnosed Conditions
Rare Disorders
Orphan Diseases
RECRUITING
CHILD
ADULT
OLDER_ADULT