SDS Italian Research Grant 2024

Maximum Amount €10,000
Firm Deadline for Receipt of Applications: December 1st, 2023.

Eligibility: Persons applying for these grants if not in a faculty position need to provide a declaration by a supervisor with a position in the department (not a training position) and with authority to hold an independent research grant.

Terms of Support: Support may be provided for one (1) year in an amount not to exceed E 10,000. Indirect costs are permitted and are not to exceed 10% of the total costs. The AISS will provide preference to those applications in which funds are used for supplies, equipment, technicians and other expenses and not for support of the salary of the PI or co-PIs.

Review: All applications will be reviewed by the AISS Scientific Committee (AISS-SC) or its designees.

Application: The application contains two sections.

Section 1, forms attached. The applicant and co-applicants must also include a current curriculum vitae. Section 2: Research Plan, divided as indicated below. Parts A through D should not exceed 6 pages, using a font no smaller than 10 point.

Part A. Specific
Part B. Significance and background
Part C. Preliminary studies
Part D. Experimental design and methods
Part E. References (not included in the 6 page limit)
Part F. Relevance of the research to Shwachman-Diamond Syndrome
Part G. For junior faculty separate letter from supervisor or department head confirming
commitment to project, and to provision of space and facilities
Part K. If human subjects and animals are involved, a statement by the PI or supervisor
overseeing human or animal studies is compulsory. If considered as necessary by the AISS-SC,
more information about ethical committee study approval may be asked.

Submission by email to the AISS: aiss@shwachman.it

SDS Italian Research Grant 2024 - Form

Progetti realizzati

• Further insights into the leukocyte immunophenotype of SDS patients and extensive analysis of mTOR activation in leukocyte subsets - PDF
  Responsabili: Dr. Antonio Vella

• Role of notch pathway in Shwachman-Diamond Syndrome hematopoiesis - PDF
  Responsabili: Dr. Simone Cesaro

• Preclinical evaluation of the effect of Ataluren in restoring the expression of mutated SBDS protein in SDS cells - PDF
  Responsabili: Dr. Marco Cipolli

• Role of the human niche in inducing and supporting myelodysplastic syndrome and/or leukemia evolution in Shwachman Diamond Syndrome patients - PDF
  Responsabili: Dr. Giovanna D'Amico

• Genomic and clinical variations in Shwachman Diamond Syndrome: in silico and molecular analysis of data from exome sequencing in 16 patients - PDF
  Responsabili: Dr. Antonella Minelli

• Deletion of the long arm of chromosome 20 in bone marrow encompassing the EIF6 gene in Shwachman Diamond Syndrome: benign prognosis mechanism evaluated by cytogenetic, aCGH and expression arrays approaches - PDF
  Responsabili: Dr. Roberto Valli

• Analisi genetica della sindrome di Shwachman - PDF
  Responsabili: Dr.ssa Elena Nicolis e dr. Alberto Bonizzato

• Phenotypical and functional characterization of MSC obtained from SDS patients - PDF
  Responsabile: Dr.ssa D'Amico

• Studio del gene EF-2 nei pazienti con sindrome di Shwachman ma negativi per le mutazioni nel gene SBDS - PDF
  Responsabile: Dr.ssa Nicolis

• SDS: 1) origine delle anomalie cromosomiche tipiche nella linea maturativa della cellula staminale emopoietica; 2) proprietà meccaniche del globulo rosso e dei neutrofili: correlazioni con aspetti clinici dei pazienti - PDF
  Responsabile: Dr.ssa Minelli

• Instabilità del cariotipo e rischio di sindrome mielodisplastica (SMD) e leukemia mieloide acuta (LMA) della Sindrome di Shwachman-Diamond (SDS) indagati mediante ibridazione genomica comparative su microarray (a-CGH) - PDF
  Responsabile: Dr. Pasquali

• Valutazione della funzione cognitiva e della struttura cerebrale nei pazienti con Sindrome di Shwachman-Diamond (SDS) - PDF
  Responsabile: Dr.ssa Perobelli

• Caratterizzazione degli eventi molecolari e genetici alla base dell'evoluzione a mielodisplasia e/o leucemia mieloide acuta nei pazienti affetti da SDS - PDF
  Responsabile: Dr. Cazzaniga

• Analisi delle maturazione emopoietica mieloide midollare nella SDS - PDF
  Responsabili: Dr.ssa Mercuri e dr. Cesaro

• Susceptibility to oxidative stress caused by ionizing radiation exposure in SDS affected patients lymphocytes - PDF
  Responsabili: Dr. Morini e Prof. Danesino

• Cytogenetics and a-CGH as tools to find and monitor chromosome changes acquired in the course of Shwachman-Diamond syndrome (SDS): molecular mechanisms primed and risk of myelodysplastic syndrome (MDS) / acute myeloid leukaemia (AML) - PDF
  Responsabile: Dr.ssa Maserati

• New reference growth charts for italian patients with Shwachman-Diamond syndrome - PDF
  Responsabile: Dr.ssa Tridello

Articoli scientifici

Trapianto di cellule staminali ematopoietiche

Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party.
Cesaro S, Donadieu J, Cipolli M, Hugues Dalle J, Styczynski J, Masetti R, Strahm B, Mauro M, Alseraihy A, Aljurf M, Dufour C, Peffault de la Tour R.
Transplant Cell Ther. 2022 Jul 20; S2666-6367(22)01472-5.
Leggi l'articolo
Comunicato stampa del Dr. Simone Cesaro

Curve di crescita

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.
Cipolli M, Tridello G, Micheletto A, Perobelli S, Pintani E, Cesaro S, Maserati E, Nicolis E, Danesino C, on behalf of the Italian Registry Organization.
BMJ Open 2019; 9:e022617. doi:10.1136/bmjopen-2018-022617
Leggi l'articolo

Bibliografia completa sulla SDS
Fonte PubMed