Sunday April 8 – Wednesday April 11, 2018

o    Sunday Evening Session (Houston Marriott Medical Center):

§  FAMILY Q&A SESSIONS: English (Shimamura, USA, Sasa, USA, Leung, USA) and Spanish (Bacino, USA, Diaz, USA, Martinez, USA) 4:00-4:30

§  LECTURE: Review of current diagnostic criteria using the previous two international consensus reports; SDS Registry, and introduction to the congress agenda (Shimamura/Bertuch, USA) 4:30-5:30


o    Monday Morning Session (Rice University, BRC Building):
SDS DEFINITION AND GENETICS (Chairs Rommens, Canada, Bacino, USA)

§  Welcome and opening remarks: 8:15-8:30 (Local Organizing Committee, Dr. Poplack, and Dr. Singh)

§  SDS as a ribosomopathy (Baserga, USA): 8:30-9:00

§  Shwachman -Diamond disease: the canonic definition challenged by the genetic (Donadieu, France): 9:00-9:30

§  EFL1 deficiency causes Shwachman-Diamond Syndrome
(Revy, France): 9:30-10:00

·          Coffee Break 10:00-10:30

§  Genetic groups of SDS in Canada, and the SDS underlying hematopoietic phenotype (Dror, Canada): 10:30-11:00

§  Selected abstracts: 11:00-12:00

§  SDS genetics and definition roundtable (Rommens, Canada, Dror, Canada, Zeidler, Germany): 12:00-12:45

·          Lunch and Poster View (odd number posters): 12:45-2:00


o    Monday Afternoon Session (Rice University, BRC Building):
(Chairs Vulliamy, UK, Bertuch, USA)

§  Molecular basis of Shwachman-Diamond Syndrome (Warren, UK) 2:00-2:30

§  Characterization of DNAJC21 as a bone marrow failure gene (Vulliamy, UK) 2:30-3:00

§  Decreased Cdc42 activity regulates functional decline of HSC in Shwachman-Diamond Syndrome (Myers, USA) 3:00-3:30

·          Coffee break 3:30-4:00

§  The niche in Schwachman-Diamond Syndrome: inflammation driving evolution? (Raaijmakers, The Netherlands) 4:00-4:30

§  Selected abstracts 4:30-6:00


o    Monday Evening: NETWORKING DINNER

Dinner (Houston Marriott Medical Center) 6:30-8:30

o    Tuesday Morning Session (Rice University, BRC Building): CLINICAL ASPECTS I: HEMATALOGIC MANIFESTATIONS AND CLONAL EVOLUTION (Chairs Shimamura, USA, Elghetany USA)

§  Hematologic complications of SDS (Alter, USA): 8:30-9:00

§  Management of hematologic issues in adults and in adolescents transitioning into adulthood (Liu, USA) 9:00-9:30

§  Novel recurrent chromosomal changes and gene expression related to chromosome anomalies  (Valli, Italy): 9:30-10:00

·          Coffee break 10:00-10:30

§  Clonal evolution in Shwachman-Diamond Syndrome (Delhommeau, France) 10:30-11:00

§  Selected abstracts 11:00-11:45

·          Lunch and Poster View (even number posters) 11:45-1:00


o    Tuesday Afternoon Session (Rice University, BRC Building):

LECTURE (introduction by Davies, USA) Prognostic mutations in Myelodysplastic Syndrome after stem-cell transplantation (Lindsley, USA) 1:00-1:45


o    CLINICAL ASPECTS II (Chairs Sasa, USA, Alter, USA)

§  SDS nutritional status and management (Ooi, Australia) 1:45-2:15

§  Hepatic abnormalities in SDS (Leung, USA) 2:15-2:35

·          Coffee Break 2:35-3:00

§  Pregnancy complications in women with Shwachman-Diamond Syndrome (Giri, USA) 3:00-3:20

§  Novel myopathy revealed in a newborn with severe hypotonia and thoracic dysplasia (Topa, Sweden) 3:20-3:40

§  The brain matters: neurological involvement and functioning in SDS (Kerr, Canada) 3:40-4:00

§  Selected abstracts: 4:00-4:45

o    Tuesday Evening: GALA DINNER

§  Dinner (Space Center Houston) 6:00-10:00 (separate registration required)

o    Wednesday Morning Session (Rice University, BRC Building): TRANSPLANT AND NOVEL THERAPIES (Chairs Myers, USA, Donadieu, France)

§  Hematopoietic stem cell transplantation (HSCT) for children with Shwachman-Diamond Syndrome (SDS) (Davies, USA) 8:30-9:00

§  Novel therapies (Cipolli, Italy) 9:00-9:20

§  SDS iPS studies of BMF and 7q: To identify novel therapies (Shimamura, USA): 9:20-9:40

·          Coffee Break 9:40-10:00

§  Selected abstracts 10:00-10:40

§  CONFERENCE SUMMARY, FUTURE DIRECTION,  DATA SHARING, AND ANNOUNCEMENTS (Shimamura, USA, Cipolli, Italy, Rommens, Canada, Zeidler, Germany) 10:45-11:45

o    Wednesday Afternoon: FAREWELL LUNCH

Lunch (Rice University, BRC Building) 11:45-1:00

Organizing secretariat
Città Affari sas – Mrs Flavia Pizzini
Lungadige G. Matteotti, 2
37126 Verona
Tel. +39 045 917806 Mob. +39 348 3341695
Web: www.sdscongresshouston.com
Email: info@sdscongresshouston.com

Local Organizing Committee Chairs
Dr. Tarek Elghetany
Dr. Alison Bertuch