Health Condition 1: Q043- Other reduction deformities of brain
Conditions
Interventions
None listed
Sponsors
Science and Engineering Research Board (SERB)
Eligibility
Inclusion criteria
Inclusion criteria: - Inclusion criteria (primary fibroblast to iPSC generation): subject with neurodegenerative pontocerebellar hypoplasia type 1F and pathogenic variant in EXOSC1 will be recruited into the study. – Inclusion criteria (primary fibroblast studies): subjects with pathogenic variants in RNA exosome component genes, eg. EXOSC5, EXOSC6, EXOSC7, EXOSC8 etc will be included in the study
Exclusion criteria
Exclusion criteria: – Exclusion criteria (primary fibroblast to iPSC generation): subjects without pathogenic variants in EXOSC1 will be excluded. – Exclusion criteria (primary fibroblast studies): subjects with no pathogenic variants in RNA exosome genes will be excluded
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| This project aims to study: 1. Effects of EXOSC1 pathogenic mutations on neurodevelopment & differentiation in vitro. Fibroblasts from patients with EXOSC1 pathogenic variant will be converted to induced pluripotent stem cells & further differentiated into neuronal lineages in 2D culture Timepoint: 3 years as patients with pathogenic variants in the specified genes become available & consent to participate | — |
Secondary
| Measure | Time frame |
|---|---|
| Patients with pathogenic variants in other RNA exosome components will be recruited to donate primary skin fibroblasts. These will be used to study the RNA exosome in these cells.Timepoint: 3 years as patients with pathogenic variants in the specified genes become available & consent to participate | — |
Countries
India
Contacts
Public ContactDr Priyanka Upadhyai
Kasturba Medical College, Manipal
Outcome results
None listed