In this issue: SDS Alliance highlights the patient voice at the international INNOCHRON meeting in Greece!
Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you!
What is EuNet-INNOCHRON?
EuNet-INNOCHRON is an ACTION OF EUROPEAN COOPERATION IN SCIENCE AND TECHNOLOGY, and is an abbreviation for European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias.
Chronic neutropenias (CNP) represent a wide spectrum of disorders ranging from mild to life-threatening, acquired or congenital diseases. Shwachman-Diamond Syndrome is part of this category, specifically part of the congenital neutropenia subtype.
The pathophysiological mechanisms underlying CNPs are diverse and vary from haemopoietic stem cell and bone marrow microenvironment defects resulting in impaired neutrophil production, to immune disturbances leading to accelerated apoptosis of neutrophil progenitors and/or the circulating mature neutrophils. The prognosis of patients with CNP is related to the underlying pathogenesis, the degree of neutropenia and the propensity for leukaemic transformation.
Accurate diagnosis is mandatory for risk stratification and treatment choice.
The principal challenge of the Action is to establish a wide network of researchers with special interest in CNPs and facilitate interactions and collaborations among top-level European experts and young investigators from different scientific areas i.e. Clinical and Laboratory Haematology, Immunology, Genetics, Molecular Biology and Regenerative Medicine.
The main aims of the Action are:
to promote science, training and education on advanced biochemical, immunological, genetic and molecular biology techniques for the accurate diagnosis and treatment of patients with different types of CNP, early recognition of Myelodysplastic Syndromes/Acute Myeloid Lekaemia evolution and appropriate intervention,
to link and further expand existing neutropenia networks for a more multidisciplinary approach of CNP that will result in a better characterization of the underlying diseases and development of individualized and precision medicine therapeutic approaches for selected patients,
to organize and expand CNP patient Registries and Biobanks using homogenized protocols in line with the ethical standards of the European Legal Framework and the relevant national regulations.
How did the SDS Alliance highlight the patient voice?
The SDS Alliance was invited to present the patient perspective and our advocacy efforts, and the organizers were very accommodating by providing virtual access to this impactful in-person meeting. Dr. Hars focused her talk on two areas. First, she shared patient stories and the impact SDS has on patients and their families. Second, she highlighted the SDS Alliance's programs to accelerate research toward therapies and cures. These focus areas and their progress are also highlighted on our website on our Strategy & Roadmap page.
What was the Final Conference and Working group meeting about?
The Final Conference of EuNET-INNOCHRON (European Network for the Innovative Diagnosis and Treatment of Chronic Neutropenias) Research Newtork - a COST Action - focusing on research in the field of chronic neutropenias, took place April 4-6, 2024 at the KAM Center of Mediterranean Architecture in Chania, with limited virtual access to selected speakers.
The chair of the COST Action CA18233 EuNet-INNOCHRON, Helen Papadaki, Professor of
Hematology School of Medicine, University of Crete and Director of the Hematology Department of the University Hospital of Heraklion UHH (PAGNI), organized the conference, with the participation of researchers from 32 countries as well as the European Hematology Association (EHA). Ninenty (90) researchers from 22 countries participated onsite at the final conference.
The goal of the conference was to discuss and present the results of the research of the four-year Action in the field of neutropenias - in children and adults alike - the prevention of its progression into acute leukemia, to highlight the recent focus areas which have emerged and the prospects of continuing the existing collaborations and research between partners of the Action.
During the conference, young investigators had the opportunity to present their recent results on their work in the field of neutropenias, discuss with experts in the field, expand their scientific network and promote further collaborations between research Institutions and hospitals across Europe.
The EuNet-INNOCHRON Action developed into a very successful network and interactive community, thanks to a number of dedicated scientists who looked into detail into current and future aspects of neutropenia, enhancing collaborations. Of equal significance, is the opportunity offered to many young clinicians and researchers across the EU including inclusiveness target countries and near neighbor countries to train in the field of neutropenias, a rare-disease condition which often leads to pre-leukemia. Highlights Prof. Helen Papadaki
Particularly important is the Common EU Guidelines on the diagnosis and Management of
Neutropenia jointly published by EUNET-INNOCHRON and the European Hematology Association, for the benefit of patients, their families and caretakers and practicing clinicians.
This publication focuses on neutropenia overall, and only touches on SDS superficially. However, it encourages genetic testing to include SDS and other genetic causes of neutropenia and references other important articles.
Patient representatives were also present and provided their perspectives, helping redefine therapeutic goals while providing insights on their expectations.
Thanks to the network’s work, patients have a better chance of receiving proper treatment in their place of residence. Furthermore, we have at our fingertips big data and to harvest information critical to define treatments including molecular structure of the disease, biomarkers and other parameters which aid in the prevention, diagnosis and proper monitoring of the patients’ condition. - Dr. Papadaki concludes
On behalf of the SDS patient and advocacy community, the SDS Alliance would like to express our sincere gratitude for the opportunity to participate in this important action, community, and meeting.
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