primo piano del profilo di una ricercatrice che indossa un paio di occhiali protettivi

Research

AISS finances a wide range of research projects on SDS.

Our philosophy is that investing in research on SDS is the only way forward if we want to progress beyond treatment of the symptoms alone, the priority being management of the underlying syndrome with the ultimate prospect of developing a cure.

Below, you can see the list of all the projects we have financed and a complete bibliography of scientific articles on Schwachman-Diamond Syndrome.

Shwachman-Diamond Syndrome Italian Research Grant 2018


Selected projects:
  • Effect of Ataluren on cytokine expression in Shwachman-Diamond syndrome - PDF
    Dr. Valentino Bezzerri
  • Deletions of the long arm of chromosome 20 in bone marrow: aCGH, expression analysis and development of a cellular model by the use of HL-60 cell line by the CRISPR/CAS9 system. - PDF
    Dr. Roberto Valli
  • Elucidation of aberrant SBDS splicing mechanisms to design RNA-therapeutics for Shwachman-Diamond Syndrome - PDF
    Dr. Dario Balestra
  • Biochemical and molecular investigation in patients with clinical picture of SDS, but without SBDS mutations - PDF
    Dr. Antonella Minelli
  • Role of the human niche in inducing and supporting myelodysplstic syndrome and/or leukaemia evolution in Shwachman-Diamond Syndrome patients. - PDF
    Dr. Giovanna D'Amico
  • Molecular insights into the translational regulation in SDS: Ataluren-driven modifications of translational initiation complex and control in lymphoblatoid cell lines. - PDF
    Dr. Jacopo Morini