C Danesino

C Danesino

Group Members

Cesare Danesino
(Head of Laboratory)

Antonella Minelli
(Research Staff)

Carla Olivieri
(Research Staff)

Paola De Filippi
(Postdoctoral Fellow)

Federica Ornati
(Postdoctoral Fellow)

Lucia Nacci
(PhD Student)

Sara Plumitallo
(PhD Student)


Inside the pathogenesis of a Rare Disease

Rare Diseases affect  1 subjects per 2000 (European definition; in the USA a ìrare diseaseî affects less than 200 000 Americans at any given time), with differences in incidence between geographic regions.

Patients affected by a Rare Disease often have a delayed diagnosis and encounter difficulties in order to find reference centers capable to take care of them and offer appropriated clinical follow  up. Almost all Rare genetic disease have no therapies, so the study of the molecular bases of a Rare Disease can improve early diagnosis, genetic counseling and research for new therapies. Our laboratory  is interested in studying the genetic and biological bases of four  Rare Diseases and offering for them a proper Genetic Counseling:

(i) Hereditary Hemorrhagic Telangiectasia (HHT):  genotype/phenotype correlations and miRNA analysis as  prognostic biomarker and therapeutic target
(ii) Shwachman-Diamond  Syndrome (SDS):  mutation analysis, clonal cytogenetic alterations and clinical phenotype, NGS for new genotype/phenotype correlations
(iii) Pompe Disease (GSD-II): Genetic and Clinical variability, identification of modifying genes
(iv) Juvenile Myelomonocytic Leukaemia (JMML): a phase 2, multicenter, open-label study is ongoing to evaluate the pharmacokinetics, pharmacodynamics, safety and activity of azacitidine, comparing historical controls with newly diagnosed cases.

As far as Medical Genetics is concerned, an extensive Genetic Counseling service is provided by Prof C Danesino.


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