EHA-SWG Scientific Meeting

FOCUS ON NEUTROPENIA & OTHER GENETIC MARROW FAILURES

DATES: September 14-16, 2012

LOCATION: Genova, Italy

CHAIR: Prof C. Dufour

The recently established pilot EHA-SWG Scientific meeting took place in Genova and was a great success. This innovative format included discussions with patient organization and voting boxes were used for the self-assessment of participants. The program covered various aspects of neutropenias and of other genetic marrow failure disorders like Fanconi Anemia, Dyskeratosis Congenita and Schwachman Diamond Syndrome. Molecular pathogenesis, determinants of leukemic transformation, patients’ managements and treatments, role of registries, of patients’ family associations, of regulatory authorities, clinical case presentations and future directions.

A report of this meeting has been published and is now available here. For more information the program can be found below under the sponsor acknowledgment.

Sponsor Acknowledgements

This EHA-SWG Scientific Meeting has been made possible through the generous support by an unrestricted educational grant from Novartis Oncology.

Program

Focus on Neutropenia & other genetic marrow failures

14-16 September 2012

Day 1, Friday, September 14, 2012

Time	Title	Speaker
13:00-13:55	REGISTRATION & LIGHT LUNCH
14:00-14:05	WELCOME & INTRODUCTORY REMARKS	C. Dufour and L. Malcovati
14:05-15:45	PATHOGENESIS I: GENETIC NEUTROPENIAS	Chair: J. Palmblad
14:05-14:30	ELA- 2	K. Welte
14:30-14:55	Hax/G6PC3 and others	K. Boztug
14:55-15:20	Neutropenias associated to ID	A. Plebani
15:20-15:45	Cyclic Neutropnias	D.C. Dale
15:45-16:15	COFFEE BREAK
16:15-17:55	PATHOGENESIS II: AUTOIMMUNE, IDIOPATHIC & OTHERS	Chair: J. Palmblad
16:15-16:40	Autoimmune Neutropenias	M. Bruin
16:40-17:05	Chronic idiopathic neutropenia	H. Papadaki
17:05-17:30	Drug induced neutropenia	J. Palmblad
17:30-17:55	Glycogen Storage disease IB & metabolic neutropenias	D.C. Dale
17:55-18:15	WRAP-UP VOTING SESSION	J. Palmblad

Day 2, Saturday, September 15, 2012

Time	Title	Speaker
08:00-09:15	MOLECULAR PATHOGENESIS OF GENETIC MARROW FAILURE SYNDROMES	Chair: G. Bagby
08:00-08:25	The molecular pathogenesis of Schwachman Diamond Syndrome (SDS)	A. Warren
08:25-08:50	The molecular pathogenesis of Fanconi Anemia (FA)	J. Surralles
08:50-09:15	The molecular pathogenesis of Dyskeratosis Congenita (DKC)	T. Vulliamy
09:15-10:30	MOLECULAR DETERMINANTS OF TRANSFORMATION	Chair: K. Welte
09:15-09:40	Molecular determinants of transformation in SCN	I. Touw
09:40-10:05	Molecular determinants of leukemic transformation in FA	G. Bagby
10:05-10:30	Cytogenetic and molecular determinants of transformation in Schwachman Diamond Syndrome	E. Maserati
10:30-10:45	WRAP-UP VOTING SESSION	G. Bagby
10:45-11:15	COFFEE BREAK
11:15-12:30	MANAGEMENT & TREATMENT I	Chair: H. Papadaki
11:15-11:40	Diagnosis & FUP of neutropenia	F. Fioredda
11:40-12:05	Infection profile in SCN	J. Donadieu
12:05-12:30	Neutrophils and B cells in SCN	A. Cerutti
12:30-13:30	LUNCH
13:30-15:45	MANAGEMENT & TREATMENT II	Chair: F. Fioredda
13:30-13:55	Neutrophils and NK cells in Severe Chronic Neutropenias	J. Donadieu
13:55-14:20	Standard treatment of SCN	P. Ancliff
14:20-14:45	HSCT in SCN	G. Carlsson
15:45-16:15	COFFEE BREAK
16:15-17:30	MANAGEMENT & TREATMENT III	Chair: J. Donadieu
16:15-16:40	Genetic counselling and pregnancies in SCN	C. Zeidler
16:40-17:05	Treatment options in FA	C. Dufour
17:05-17:30	Treatment options in DKC	C. Dufour
17:30-18:00	WRAP-UP VOTING SESSION	H. Papadaki

Day 3, Sunday, September 16, 2012

Time	Title	Speaker
08:00-09:20	ROLE OF THE REGISTRIES	Chairs: J. Bueren and J.Surralles
08:00-08:20	Genotype-Phenotype correlation The SCNIR data	C. Zeidler
08:20-08:40	The activity of the French Registry of Neutropenias	J. Donadieu
08:40-09:00	Genotype-Phenotype correlation in FA	J. Svahn
09:00-09:20	The view of the Patients' Associations - The Italian Fanconi Anemia Research Association (AIRFA)	A. Parente Mignone
09:20-09:40	COFFEE BREAK
09:40-10:20	SIMULATED CLINICAL CASE PRESENTATION	P. Ancliff
	Presentation of two clinical cases with interactive votations on issues of clinical relevance (Differential diagnosis, treatment, monitoring & FUP plans)	Case 1: D. Tesfa, Case 2: S. Kinsey
10:20-12:00	ROUND TABLE: FUTURE DIRECTIONS. Part 1	Chair: K. Welte
10:20 - 10:45	Novel targeted treatment of HLH: translating from animals to humans	C. de Min
10:45 - 11:10	Searching for new genes in SCN	K. Boztug
11:10 - 11:35	Pivotal players in molecular pathways of SCN	J. Skokowa
11:35 - 12:00	New treatments in SCN	D.C. Dale
12:00-12:15	SHORT BREAK
12:15-13:30	ROUND TABLE: FUTURE DIRECTIONS. Part 2	Chair: C. Dufour
12:15-12:40	The issues of clinical trials in rare diseases	F. Pignatti
12:40-13:05	Gene therapy & IPS in FA	J. Bueren
13:05-13:30	New target molecules for treatment of marrow failure	G. Bagby
13:30-14:30	LUNCH