Gene Discovery Core, The Manton Center



Status:Recruiting
Healthy:No
Age Range:Any
Updated:10/25/2018
Start Date:February 2010
End Date:December 2050
Contact:Casie A Genetti, MS, CGC
Email:gdc@childrens.harvard.edu
Phone:617-919-3378

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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

Samples are used for genetic analysis (primarily exome and genome sequencing) 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.

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) a 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, 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.

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
We found this trial at
1
site
300 Longwood Ave
Boston, Massachusetts 02115
(617) 355-6000
Phone: 617-919-3378
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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