Oncohematology and Genetics

Clinical Genetics and Genomic Medicine


Cód. SSPA: IBiS-C-03

Current lines of investigation

  • Enteric Nervous system alterations. Hirschsprung's disease as a model for polygenic diseases and Intestinal Neuronal Dysplasia

Keywords: Hirschsprung's disease, RET proto-oncogene, susceptibility factors, complex model of disease, "HSCR Haplotype", susceptibility loci, intestinal neuronal dysplasia.

  • Thyroid cancer

Keywords: Multiple Endocrine Neoplasia type 2, medullary thyroid cancer, papillary thyroid cancer, sporadic tumors; germinal mutations at RET; modifier factors; molecular and functional characterization.

  • Genetic Mental Retardation syndromes

Keywords: Mental retardation, cryptic chromosomal anomalies, MLPA, molecular karyotyping, microarrays, SNPs

  • Spinal Muscular Atrophy

Keywords: SMA; SMN1; SMN2; genotype-phenotype correlation.

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