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CANVAS (objective 1 screening of uncharacterized samples in Indian…
CANVAS
objective 1 screening of uncharacterized samples in Indian cohort
FPCR and TPPCR of 500 controls
Link Title
southern blot to find length
Screening of 1200 Late-onset Ataxia samples
Objective 2
Long-read sequencing of suspected patients
LR-PCR in suspected samples
Screening of ALS Patients(550), Screening of FRDA like patients(700),
Screening of HMSN Disease
Objective 3
To shortlist the genes where A4G/A2G3/A3G2 repeats having higher chances of expansion and are disease causing
obj 3: To develop iPSCs of bi-allelic expansion positive patients and generating the compatible model system to study the disease
obj2: To study the Repeat-mediated toxicity/RAN translation in secondary cell lines
Disease
symptoms
onset
severity
inheritance
how expansion causes the diesase
how was expansion discovered
Pathomechanism
What literature suggests
Hypothetical
known