Publikasjoner
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Jønsson, Viggo; Awan, Haneef; Jones, Neil Deaton; Johannessen, Tom Børge; Thøgersen, Klaus & Steig, Bjarni á
[Vis alle 8 forfattere av denne artikkelen]
(2022).
Meiotic drive in chronic lymphocytic leukemia compared with other malignant blood disorders.
Scientific Reports.
12:6138(1),
s. 1–11.
doi:
10.1038/s41598-022-09602-1.
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Abstract The heredity of the malignant blood disorders, leukemias, lymphomas and myeloma, has so far been largely unknown. The present study comprises genealogical investigations of one hundred and twelve Scandinavian families with unrelated parents and two or more cases of malignant blood disease. For comparison, one large family with related family members and three hundred and forty-one cases of malignant blood disease from the Faroese population was included. The inheritance is non-Mendelian, a combination of genomic parental imprinting and feto-maternal microchimerism. There is significantly more segregation in maternal than in paternal lines, predominance of mother-daughter combinations in maternal lines, and father-son combinations in paternal lines. Chronic lymphocytic leukemia is the most frequent diagnosis in the family material, and chronic lymphocytic leukemia has a transgenerational segregation that is unique in that inheritance of susceptibility to chronic lymphocytic leukemia is predominant in males of paternal lines. Male offspring with chronic lymphocytic leukemia in paternal lines have a birth-order effect, which is manifest by the fact that there are significantly more male patients late in the sibling line. In addition, there is contravariation in chronic lymphocytic leukemia, i.e. lower occurrence than expected in relation to other diagnoses, interpreted in such a way that chronic lymphocytic leukemia remains isolated in the pedigree in relation to other diagnoses of malignant blood disease. Another non-Mendelian function appears in the form of anticipation, i.e. increased intensity of malignancy down through the generations and a lower age at onset of disease than otherwise seen in cases from the Cancer Registers, in acute lymphoblastic leukemia, for example. It is discussed that this non-Mendelian segregation seems to spread the susceptibility genes depending on the gender of the parents and not equally to all children in the sibling line, with some remaining unaffected by susceptibility i.e. "healthy and unaffected", due to a birth order effect. In addition, anticipation is regarded as a non-Mendelian mechanism that can amplify, «preserve» these vital susceptibility genes in the family. Perhaps this segregation also results in a sorting of the susceptibility, as the percentage of follicular lymphoma and diffuse large B-cell lymphoma is lower in the family material than in an unselected material. Although leukemias, lymphomas and myelomas are potentially fatal diseases, this non-Mendelian distribution and amplification hardly play any quantitative role in the survival of Homo sapiens, because these diseases mostly occur after fertile age.
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Jønsson, Viggo; Awan, Haneef; Jones, Neil D.; Johannessen, Tom Børge; Steig, Bjarni A & Andosdottir, Gudrid
[Vis alle 7 forfattere av denne artikkelen]
(2019).
Inheritance of Susceptibility to Malignant Blood Disorders.
Scientific Reports.
9,
s. 1–12.
doi:
10.1038/s41598-019-38879-y.
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Malignant blood disorders depend on heritable susceptibility genes and occur in familial aggregations. We suggest a model of transgenerational segregation of the susceptibility genes based on the study of malignant blood disorders in Norwegian and Danish families with unrelated parents, and in the inbred Faroese population with related parents. This model, consisting of parental genomic imprinting and mother-son microchimerism, can explain the male predominance in most of the diseases, the predominance of affected parent-offspring when parents are not related, and the different modes of segregation in males and females. The model displays a specific pattern in the distribution of affected relatives for each diagnosis, viz. a characteristic distribution in the pedigrees of family members with malignant blood disorder related to the proband. Three such patterns, each reflecting a specific transgenerational passage, were identified: (1) alterations in the number of affected relatives in paternal lines alone, e.g. in patterns for probands with multiple myeloma; (2) alterations in the number of affected relatives in both paternal and maternal lines for probands with chronic lymphocytic leukemia; and (3) no alterations in the numbers of male and female affected relatives in the parental lines, e.g. for probands with some types of malignant lymphoma.
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Jønsson, Viggo; Awan, Haneef; Johannesen, Tom Børge & Tjønnfjord, Geir Erland
(2014).
Chronic Lymphocytic Leukemia, Advantages of Monoclones?
Journal of Leukemia.
ISSN 2329-6917.
2(3).
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Jønsson, Viggo; Awan, Haneef; Johannesen, Tom B.; Ly, Bernt & Tjønnfjord, Geir Erland
(2010).
Anticipation in Families with Chronic Lymphocytic Leukemia and Other Lymphoproliferative Disorders.
Translational Oncogenomics.
4,
s. 1–9.
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Holub, Petr; Gonzalez-Garcia, Juan; Boiten, Jan-Willem; Demotes-Mainard, Jacques; Tenhunen, Ville & Åkerström, Wolmar Nyberg
[Vis alle 22 forfattere av denne artikkelen]
(2026).
EOSC Health Data Task Force. Deliverable 1: Identification of gaps, redundancies, and possible synergies regarding different user journeys of researchers in EHDS and EOSC.
doi:
10.5281/ZENODO.19254262.
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As Europe advances both the European Open Science Cloud (EOSC) and the European Health Data Space (EHDS), understanding how these two major initiatives interact is critical for researchers, data holders, and policymakers. This work directly supports the strategic goal of unlocking the potential of health data for research and innovation while minimising fragmentation, redundancies, and barriers to cross-border collaboration.
This deliverable presents a comprehensive gap analysis of the interplay between the EOSC ecosystem and the EHDS regulation, covering data hosting and discoverability, interoperability and quality, and data processing. It targets researchers, research infrastructure operators, policymakers, Health Data Access Bodies, and technical implementers active in either or both ecosystems.
The document maps the EOSC and EHDS landscapes across governance, infrastructure, interoperability, and data processing. A foundational distinction underpins the entire analysis: EHDS is a binding, top-down regulatory framework exclusively governing electronic health data — establishing legal bases, Secure Processing Environments (SPEs), and Health Data Access Bodies (HDABs) — whereas EOSC is a voluntary, federated, community-driven initiative spanning all scientific disciplines. The two are complementary but legally and operationally independent.
Despite this distinction, several concrete synergies emerge. EOSC nodes could provide SPE-compliant infrastructure; metadata standards such as HealthDCAT-AP could be aligned across both ecosystems to improve data discoverability; authentication frameworks (eIDAS, AARC/Life Science Login) are already technically compatible; and EOSC's projects devoted Trusted Research Environments (TREs) can directly inform EHDS SPE design.
The document equally flags persistent risks. Semantic interoperability of health datasets remains fragmented, and the SPE implementing acts —which will define critical technical requirements— are not due until March 2027. Importantly, since EHDS deliberately refrains from prescribing semantic or technical standards for secondary use data, research communities and EOSC have a concrete voluntary role to fill. The phased timeline for EHDS secondary use provisions (2029–2031) provides a meaningful window to advance this alignment work before full regulatory application.
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Sætrom, Pål; Lehvaslaiho, Heikki; Stansberg, Christine; Awan, Haneef & Hesam, Ahmad
(2024).
EOSC-ENTRUST D13.4 Year one version of EOSC-ENTRUST Blueprint & Interoperability Framework.
zenodo.
doi:
10.5281/zenodo.14362388.
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Jønsson, Viggo; Awan, Haneef; Johannesen, Tom Børge; Ly, Bernt & Tjønnfjord, Geir Erland
(2009).
Birth Order Effect in the Inheritance of CLL.
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Publisert
31. mai 2017 13:45
- Sist endret
25. sep. 2026 07:45