Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.
ID
Source
Brief title
Condition
- Neurological disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
the generation of iPS cells from patient material (blood or skin cells), that
have either already been sampled during the diagnostic work-up of the patients,
or will be collected when other procedures are scheduled.
Secondary outcome
the generation of disease models from the generated iPS cells which will allow
further functional investigations into the disease mechanisms.
Background summary
Neurodevelopmental disorders are frequently occurring, and incompletely
understood. Patients are frequently referred to Clinical geneticists for
diagnostics and counseling. Recent advantages in DNA diagnostics has discovered
many novel disease associated genes and mutations, but it is still unclear how
they are mechanistically implicated in these disorders. Additional research is
needed to obtain novel insights in these processes. Recently, induced
pluripotent stem (iPS) cells have been described, that can be generated from
blood or skin cells from patients by reprogramming. These cells, and made from
patients and proper controls, can be differentiated in vitro towards neuronal
cell lineages, and can be used as disease models to study genetic disorders. By
using these models, novel insights can be obtained in the disease pathogenesis
contributing to these disorders.
Study objective
Here we will generate iPS cells from patients with genetic neurodevelopmental
disorders and (related) healthy control individuals, that can be used to
generate in vitro disease models to further study the mechanisms behind these
disorders.
Study design
iPS cells will be generated from blood or skin cells of patients, by iPS
reprogramming. Patients routinely visit our clinic for DNA diagnostics and
counseling. Cells from patients will be collected in combination with routine
clinical diagnostic procedures, or when other procedures are planned. In
addition, already sampled cell lines from patients can be used. Therefore, the
burden for the individuals participating in this research will be reduced to a
minimum.
Study burden and risks
Blood samples or skin biopsies will be collected from patients and control
individuals. Cells that have already been collected during routine clinical
diagnostic work-up can be used, or cells will be collected when additional
planned procedures happen, so that additional burden for the patients will be
reduced to a minimum
Wytemaweg 80
Rotterdam 3015 CN
NL
Wytemaweg 80
Rotterdam 3015 CN
NL
Listed location countries
Age
Inclusion criteria
patients with genetic causes of neurodevelopmental disorders. In principle patients of all ages are eligible, as some forms of neurodevelopmental disorders present already at young age. Healthy individuals either related or unrelated to the patient.
Exclusion criteria
-Patient tested as HIV or hepatitis positive.
-Healthy control individuals: Partners of patients and employees of Erasmus MC department of Clinical Genetics are excluded.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL62031.078.17 |