NDAL, being one of the major reference centers in Turkey specialized on neurodegenerative disease biology, builds on its experience in genetics. Molecular analysis in several neurological disorders is performed at NDAL. The very rich repository on patient material offers a huge potential for research. The specimens collected are peripheral blood (PBMCs, plasma, and serum), skin biopsy for cell lines, mouth epithelial cells, and gaita in future. Research/Diagnostic Methods implemented:

Wet Lab

DNA/RNA analyses

  • Isolation and quality control

PCR-based analyses

  • GeneScan
  • Sanger Sequencing
  • MLPA
  • qPCR

Protein analyses

  • Protein isolation
  • Western Blot
  • Immunofluorescence imaging

Cell Culture Lab / Functional Analyses

PBMCs

Fibroblast culture from skin cells

  • Vimentin bundling assay
  • Sacsin expression analysis

iPSCs

Modeling disease

Dry Lab (in-silico)

NGS-based analyses

  • WGS (>1000 sALS)
  • WES (>1500 NDD samples)
    • CNV
  • Bioinformatic evaluation of gene variants
    • Screening for novel disease genes
    • Screening for novel variants
    • Evaluation of variants of unknown significance
    • Understanding genotype-phenotype correlations and disease mechanisms
    • Clinician interaction
    • Reverse phenotyping
    • Searching for deep intronic/splice variants (WGS/WES)
    • Monogenic vs. complex disease genetics