GATA2-related Myelodysplastic Syndromes

  • 30 septembre 2021 - 13:00
  • Hybrid

GATA2-related Myelodysplastic Syndromes

Dates: September 30th and October 1st 2021
Venue: Athena, Greece
Organizer: Department of Pediatric Hematology and Oncology, Medical Center – University of Freiburg, Germany & HuMo-GATA2 consortium

Note: Applicants MUST be affiliated to an ERN Full Member or Affiliated Partner Institution. Other applicants see:

GATA2 is a key transcription factor critical for ontogenesis of haematopoietic system, including hematopoietic stem cell (HSC) activity and self-renewal, myeloid and myelo-erythroid progenitor cell differentiation, and erythroid precursor cell maintenance. In the past decade, heterozygous germline GATA2 mutations have been identified in a number of cohorts with cellular deficiencies (immunodeficiency syndromes initially referred to as MonoMAC syndrome, DCML deficiency, Emberger syndrome, chronic neutropenia), and in patients with familial MDS and acute myeloid leukemia (AML), as well as pediatric MDS. To date, approximately 150 unique GATA2 germline mutations have been identified in roughly 550 patients. Summarizing published cohort studies and smaller case series, approximately 75% of GATA2 mutation carriers develop myeloid neoplasia at an estimated median age of 20 years. The disease spectrum includes primary pediatric MDS, AML, chronic myelomonocytic leukemia and myeloproliferative neoplasms. In children and adolescents with primary MDS, GATA2 deficiency is a predominant germline predisposition accounting for 7% of all MDS cases, 15% of patients with advanced MDS, and 37% of patients with MDS and monosomy 7 karyotype. Among children, the prevalence of GATA2 deficiency increases with age, and 2/3 of adolescents with MDS and monosomy 7 carry germline GATA2 mutations. In adult MDS, GATA2 deficiency is rare and present in less than 0.5% of individuals, however the true prevalence in various age groups has yet to be defined. There are multiple unanswered question about the function of GATA2 as a transcription factor, as well as about the mechanism of leukemogenesis arising from predisposing GATA2 mutations.

With this workshop, we aim to bring together top experts on GATA2 deficiency, aspiring scientists and trainees to discuss the knowledge gaps and facilitate international collaborations to improve our understanding about GATA2 and associated syndrome, and ultimately improve patient outcomes.

PhD students and other young scientist working in this field.

To register please fill the application form here until September 10th. 

The training workshop is free of charge.  

Affiliated to an ERN-Full Member or Affiliated Partner institution.

The organizer together with one member of the WP17 Scientific Evaluation Committee will select the most appropriate workshop participants.
All registered participants will be informed by September 20th if they are selected to attend this training course.

At the end of the training workshop a Certificate of Attendance will be sent to the participants who attended the entire workshop. 
No credits of Continuing Education in Medicine will be issued. 

Workshops will run in English. 

The location will be the Electra Palace Hotel (, Athens, Greece

If you have specific questions, please write to the workshop organizer:
Medical Center – University of Freiburg
Department of Pediatrics and Adolescent Medicine,
Division of Pediatric Hematology and Oncology
Coordinating Study Center
Mathildenstr.1, 79106 Freiburg,

Phone: +49 761 270 46180

Questions related to organization of travelling hotel, for general inquiries about the workshops in the ERN RD Support and Training Program please write to:

See the programme here.


  • Start Date:30 septembre 2021
  • Start Time:13:00
  • End Date:1 octobre 2021
  • End Time:15:00
  • Location:Hybrid