Place of work
Division of Translational Oncology, Department of Oncology, Hematology, Immunology, Rheumatology, and Pulmonology, University Hospital Tuebingen, Tuebingen, Germany

Occupation
Basic scientist 

Main research interests
Severe congenital neutropenia, leukemia predisposition, disease modelling using iPSCs, identification of causative variants in patients with genetically unclassified severe congenital neutropenia

Vision for Young-EuNet-INNOCHRON
Promote the data and results sharing between clinicians and wet-lab scientists; ideas and experience exchange between senior and young investigators; creation of research network of specialists in neutropenia; platform for communication of young researches from different countries.

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Place of work
Principal Investigator, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata di Verona, Italy

Occupation
Basic scientist 

Main research interests
My research interest is mainly focused on the molecular mechanisms underlying the pathogenesis of inherited bone marrow failure syndromes (IBMFS), specifically in regards to the Shwachman-Diamond syndrome. In addition, my group is investigating the effect of PTC-readthrough inducer drugs (e.g. ataluren) on the restoration of nonsense mutated SBDS gene expression and function.

Vision for Young-EuNet-INNOCHRON
I'm willing to create a bridge between the lab bench and the clinic, promoting useful translational research; I would like to gather young and senior multidisciplinary international teams to enhance competitiveness to possible EU research calls; I'm willing to promote international exchange program for young investigators involved in congenital neutropenia research within the Young-EuNet-INNOCHRON program. 

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Current research interests
My current research interest is focused mainly on the pathogenesis of Mendelian Disorders. I am specifically interested in finding novel genes for Mendelian Diorders. Congenital Neutropenias is one of the main research areas. 

Clinical Expertise related to EuNet-INNOCHRON
Clinical Geneticist with special experience in patients with congenital neutropenias and hematological malignancies.

Laboratory Epertise related to EuNet-INNOCHRON

• Cytogenetics,
• FISH,
• Real-time PCR,
• Next Generation Sequencing,
• Bioinformatics

 
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Place of work
Children's Health Ireland at Temple Street/Crumlin, Dublin, Ireland

Occupation
Paediatric Haematologist

Main research interests
Childhood neutropenia and bone marrow failure syndromes.

Vision for Young-EuNet-INNOCHRON
Contribute to the understanding of neutropenias and associated conditions by multicentre collaboration. Promotion of research opportunities in this area for young investigators. Exchange of ideas and techniques. 

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Place of work
Department of Hematology, Erasmus MC, Rotterdam, the Netherlands

Occupation
Basic scientist 

Main research interests
I’m a PhD student in the last phase of my project which focusses on the leukemic progression of severe congenital neutropenia. I mainly use induced pluripotent stem cells and CRISPR-Cas9 mediated genome editing to mimic the different stages of leukemic progression observed in SCN and to investigate how SCN driver mutations might contribute to this process.

Vision for Young-EuNet-INNOCHRON

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Place of work
Sf Maria Children's Hospital Iasi, Romania

Occupation
Haematologist, Paediatric Haematologist

Main research interests
Childhood neutropenia, acute leukemia, bone marrow failure syndromes

Vision for Young-EuNet-INNOCHRON
Opportunity to exchange ideas, share experience, improve knowledge on neutropenia, creating a link between basic research and clinical aspects of diagnosis and treatment of patients with chronic neutropenia

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Current research interests
My research interest is focused mainly on the molecular basis of rare metabolic diseases, specifically on glycogen storage disease type Ib. I am interested in the identification of cellular, molecular, and genetic mechanisms underlying the cause of the development of neutropenia in GSD Ib patients. Furthermore, the targeted therapy approach using small molecules and stem cell biology are also in the focus of my research.

Clinical Expertise related to EuNet-INNOCHRON
I am a molecular geneticist with expertise in determining the precise diagnostics of rare metabolic diseases and differential diagnosis in patients with overlapping phenotypes. Also, I have experience in the functional characterization of novel variants and stem cell therapies.

Laboratory Epertise related to EuNet-INNOCHRON

• NGS (clinical exome sequencing)
• Sanger sequencing
• Cell culture (stem cells, immortalized cells)
• Characterization of a novel variants (in silico analysis, CRISPR/Cas9 gene editing, RT-qPCR, western blot)

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Current research interests

Research interests

• Pathogenesis and pathophysiological mechanisms in chronic disease in adults.
• Epidemiology, clinical presentation and management of infections in susceptible populations.
• Medical education.

Clinical Expertise related to EuNet-INNOCHRON
Internal Medicine specialist, trained in infection prevention and control

Laboratory Epertise related to EuNet-INNOCHRON
Limited experience
 
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Current research interests
My current research interest is focused on My current research interest is focused mainly on the chronic lymphoprolipherative disorders.

Clinical Expertise related to EuNet-INNOCHRON
Clinical Haematology

Laboratory Epertise related to EuNet-INNOCHRON

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