Foto del docente

Marco Seri

Full Professor

Department of Medical and Surgical Sciences

Academic discipline: MED/03 Medical Genetics

Head of Scuola di Specializzazione Genetica Medica (DI 68/2015)


Keywords: Genetic mapping of new disease loci MYH9-related disease Identification of new disease genes Hereditary Spastic Paraplegias Linkage Analysis Next generation Sequencing

Approved grants:
a) “Genetic mapping of two inherited disorders showing autosomal dominant transmission”. Ricerca Corrente, Ministry of Health.

b) “Molecular Biology and Biotechnologies in Medical Genetics: mapping and identification of genes involved in inherited disorders and in common multifactorial diseases”. Ricerca Finalizzata, Ministry of Health.

c) “Genetic mapping in a large Italian family of a gene responsible for an autosomal dominant disease showing congenital bilateral cataract, gastroesophageal reflux and spastic paraparesis with amyotrophy”. Telethon Project.

d) “DNA Microarrays for the molecular diagnosis of Multiple Endocrine Neoplasias type 2: identification of the causative mutations in the RET proto-oncogene”. Progetto Finalizzato Biotecnologie, CNR.

e) “Identification of the gene responsible for Fechtner Syndrome” Telethon Project.

f) “Linkage studies and mutational analysis in Hereditary Spastic Paraplegias” Ricerca Finalizzata, Ministry of Health.

g) “Molecular characterization of hereditary thrombocytopenias and thrombocytopathies: MYH9-related diseases and identification of non-muscle myosin heavy chain type II A (NMMHC-IIA) interacting proteins” Ministry of Research, Project COFIN 2003.

h)  “Search of new disease causing genes and genotype-phenotype correlation in Hereditary Spastic Paraplegia” Progetto Telethon

i) “Linkage analysis in families with recurrence of autosomal recessive hereditary spastic paraplegia and thin corpus callosum: analysis of the 15q13-q15 locus and identification of new disease loci ” Ministry of Research, Project COFIN 2006 .

j)      “Genetic bases of birth defects” Ricerca Finalizzata, Ministry of Health.

k)      “Genetic Mapping and identification of new genes responsible for different forms of Hereditary Spastic Paraplegia". Ministry of Research, Project COFIN 2008. 

l)      “A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies” Telethon Project.

m)      “Identification of new disease-causing genes in hereditary spastic paraplegia” Telethon Project.

n)      “Mutations in ANKRD26 cause a novel inherited thrombocytopenia at risk of developing acute leukemia: dissecting the clinical and molecular consequences of ANKRD26 mutations to better understand the mechanisms of both thrombocytopenia and leukemia.” Programma strategico, Ricerca Finalizzata, Ministero della Sanità.

o)      “Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients”. Progetto Telethon

p)      “Sviluppo ed applicazione della metodica array-CGH in un campione di 100 pazienti affetti da ritardo mentale sindromico” Fondazione del Monte

q)      “Developing Medical Genetics Education through Curriculum Reforms and Establishment of Postgraduate Training Programs (MedGen)” Progetto Tempus, EU