Jean-Jacques Cassiman

Jean-Jacques Cassiman
KU Leuven | ku leuven · Department of Human Genetics

About

607
Publications
53,286
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21,818
Citations
Citations since 2017
2 Research Items
2885 Citations
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20172018201920202021202220230100200300400500
20172018201920202021202220230100200300400500

Publications

Publications (607)
Article
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The Cosmopolitan Chicken Project is an artistic undertaking of renowned artist Koen Vanmechelen. In this project, the artist interbreeds domestic chickens from different countries aiming at the creation of a true Cosmopolitan Chicken as a symbol for global diversity. The unifying theme is the chicken and the egg, symbols that link scientific, polit...
Article
The previously published genetic identification of presumptive samples attributed to two French kings, Henri IV and Louis XVI, by Charlier et al., was recently refuted by a genetic genealogic approach. This (provisional) refutation illustrates the difficulties in confirming the identification of historical DNA samples using limited genetic data. Th...
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Genetic analysis strongly increases the opportunity to identify skeletal remains or other biological samples from historical figures. However, validation of this identification is essential and should be done by DNA typing of living relatives. Based on the similarity of a limited set of Y-STRs, a blood sample and a head were recently identified as...
Article
With the human genome project running from 1989 until its completion in 2003, and the incredible advances in sequencing technology and in bioinformatics during the last decade, there has been a shift towards an increase focus on studying common complex disorders which develop due to the interplay of many different genes as well as environmental fac...
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Human beta-defensins (hBDs) are crucial peptides for the innate immune response, and are thus prime candidates as therapeutics directed against infective diseases. Based on the properties of wild-type hBD1 and hBD3, and of previously synthesized analogs (1C, 3I and 3N), we have designed a new analog, 3NI, and investigated its potential as an antimi...
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The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.
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The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.
Data
Definitions of genetic testing found in recommendations, guidelines, reports, statements, positions and other documents from the following organizations
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In spite of being very commonly used, the term genetic testing is debatable and used with several meanings. The diversity of existing definitions is confusing for scientists, clinicians and other professionals, health authorities, legislators and regulating agencies and the civil society in general, particularly when genetic testing is the object o...
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The definition of "genetic testing" is not a simple matter, and the term is often used with different meanings. The purpose of this work was the collection and analysis of European (and other) legislation and policy instruments regarding genetic testing, to scrutinise the definitions of genetic testing therewith contained the following: 60 legal do...
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The importance of gene- or locus-specific databases (LSDBs) has recently been extolled in this journal (The case for locus-specific databases. Nature Reviews Genetics 12, 378–379 (2011))1. Here we argue that coordination of international efforts for developing comprehensive mutation databases and patient phenotype registries is essential for optima...
Article
For a significant number of patients, there exists no, or only little, interest in developing a treatment for their disease or condition. Especially with regard to rare diseases, the lack of commercial interest in drug development is a burning issue. Several interventions have been made in the regulatory field in order to address the commercial dis...
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The Zic transcription factors play critical roles during embryonic development. Mutations in the ZIC2 gene are associated with human holoprosencephaly, but the etiology is still unclear. Here, we report a novel function for ZIC2 as a regulator of β-catenin·TCF4-mediated transcription. We show that ZIC2 can bind directly to the DNA-binding high mobi...
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The Public Health Foundation, Cambridge UK, released in November 2010 a report entitled: ‘Public health in an era of genome-based and personalized medicine’. The report (Hall 2010) is based on a meeting convened at Ickworth House in May in Suffolk, UK and was attended by a group of 24 international and multidisciplinary experts. In the 35 pages rep...
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The use of stored tissue samples from children for genetic research raises specific ethical questions that are not all analogous to those raised when adult participants are concerned. These include issues with regard to consent, as it is typically a parent who consents to the use of samples from children. In this paper, we discuss the scope of pare...
Article
Research on biological samples from children and pediatric biobanks can be useful for the progress of medical science. For example, genetic cohort studies can shed an important light on the interaction between genes and environment and help understand diseases such as asthma, food intolerances, autism, and attention-deficit/ hyperactivity disorder....
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The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes. Patients were selected from 101 families with a total of 171 F508del-CFTR homozygous CF patients to identify CF modifying gen...
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The combination of the issue of return of individual genetic results/incidental findings and paediatric biobanks is not much discussed in ethical literature. The traditional arguments pro and con return of such findings focus on principles such as respect for persons, autonomy and solidarity. Two dimensions have been distilled from the discussion o...
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The increased knowledge of genetics has raised new questions, and confusion has been growing about the evaluation of the results of recent research and the role of geneticists in the genomic medicine. If we focus on transgenerational and developmental aspects of diseases, the answers might be more evident.
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The attitudes towards the reuse for research of biological samples that were gathered in a diagnostics context have changed over the last years. A few decades ago, people would not hesitate to use such samples without explicit consent. Then, in conjunction with a move towards a stress to personal autonomy in bioethics, many would argue that written...
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The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.
Chapter
The most important contributions of the EuroGentest NoE can be summarized as follows: • European diagnostic labs are moving towards accreditation under ISO 15189, hereby helped by training workshops in quality management and accreditation; integration and harmonization of the three EQA schemes in Europe and new Best practice guidelines for the labs...
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he ethical aspects of the use of stored tissue samples collected from minors are of topical interest. However, the views of professionals working in the field of genetics have not been investigated in depth anywhere. We conducted a survey among 194 such professionals in Belgium. This list was composed of the members of the High Council for Anthropo...
Article
Increased activity of the epithelial sodium channel (ENaC) in the respiratory airways contributes to the pathophysiology of cystic fibrosis (CF), a genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In some patients suffering from atypical CF a mutation can be identified in only one CFTR alle...
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This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a programme should be implemented. Instead the focus was to provide a framework for countries and agencies...
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Copy number variations of the cluster of beta-defensin genes have been associated with psoriasis and inflammatory bowel disease. Controversy still exists on whether the beta-defensins genes determine susceptibility for chronic obstructive pulmonary disease (COPD). Objectives: We investigated whether genomic copy number variations of the beta-defens...
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Genetic research on pediatric stored tissue samples raises specific ethical questions that differ from those raised when adults are the donors. To investigate opinions on this matter, we conducted 10 focus group discussions. Five focus groups were conducted with adult participants and 5 had teenage participants between 15 and 19 years old. The disc...
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Genetic testing is a term used in different settings, often with very different meanings. There are only very few studies published about the various possible definitions of "genetic testing", and evidence is lacking from its use in professional practise. The need for precise definitions is particularly felt when producing legislation, policy recom...
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Human beta-defensins (hBDs) are antimicrobial peptides of human innate immunity. The antibacterial activities of hBDs 1, 2, and 4 but not the activity of hBD3 are impaired by high salt levels. We have designed and synthesized seven novel hBD analogs, constituted by different domains of hBD1 (which is constitutively expressed in humans) and of hBD3...
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This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the definition.
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The possibilities for testing and screening for genes involved in inherited diseases or susceptibility to diseases have increased spectacularly. Combined with a revolution in the availability of sophisticated new technologies for testing, the question arises how will we be able to continue to provide quality services to our customers ? Who will pro...
Book
Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a p...
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The potential benefits of biobank research are well known. Also, the ethical implications of genetic research on stored tissue samples are well discussed in existing literature. The inclusion of tissue samples from minors may have significant scientific value. However, this inclusion raises specific ethical questions. We have performed a systematic...
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A translocation (14;19)(q32;q13.1) was found in a 31 year old man with a large cell lymphoma which had evolved from chronic lymphocytic leukaemia (CLL). Molecular analysis showed a monoclonal proliferation of B cells with rearrangement of the immunoglobulin (Ig) heavy and kappa light chain genes, and of the bcl-3 gene on chromosome 19q. Nine cases...
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The human genome is rich in genomic regions that are repeated several times. These regions are known as CNVs (copy number variations) and can be polymorphic. Moreover, the number of copies may play a role in the predisposition to particular diseases. It is therefore important to accurately determine the copy number of those CNVs in individuals. We...
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Stored tissue samples are an important resource for epidemiological genetic research. Genetic research on biological material from minors can yield valuable information on the development and genesis of early-onset genetic disorders and the early interaction of environmental and genetic factors. The use of such tissue raises some specific ethical a...
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We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could be potentially explained by an ENaC mutation by a Mendelian mechanism, such as p.V114I and p.F61L in...
Article
The active cellular component in Dupuytren disease (DD) is the alpha-smooth muscle actin (alpha-SMA) containing myofibroblast. The underlying regulatory processes in activation of myofibroblasts resemble the pathophysiology of certain types of cancer. Accumulation of beta-catenin has been shown in many fibroproliferative processes, including DD and...
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Recurrence of Dupuytren's contracture is common yet unpredictable, compromising surgical outcome. The alpha-smooth muscle actin-containing myofibroblast is the active contractile cellular component. Based on recent reports on beta-catenin accumulation in Dupuytren's disease, we investigated a possible relation with disease recurrence. We divided a...
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The defect in chloride and sodium transport in cystic fibrosis (CF) patients is a consequence of CF transmembrane conductance regulator (CFTR) loss of function and an abnormal interaction between CFTR and the epithelial sodium channel (ENaC). A few patients were described with CF-like symptoms, a single CFTR mutation, and an ENaC mutation. To study...
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Morphological, immunological and cytogenetic features were studied in 27 adults presenting with Ph chromosome-positive acute lymphoblastic leukaemia (ALL), in correlation with clinical outcome. Twenty patients (group 1) were diagnosed as having typical ALL according to the FAB criteria supported by immunological findings. Less than 1% blast cells w...
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Primary sclerosing cholangitis (PSC) is a progressive cholestatic disease commonly associated with inflammatory bowel disease (IBD) and characterized by fibrosing inflammatory destruction of bile ducts. The histological features in the liver of PSC patients are similar to those observed in cystic fibrosis (CF). Our aim was to study whether variants...
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According to ESHG policy, the proposed recommendations of the Public and Professional Policy Committee (PPPC) and other ESHG committees and working parties, after member consultation and Board approval, become formal documents and have no named authors. The authorship of these recommendations should therefore be as shown above, instead of S Aymé, G...
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A multiplex PCR was developed for the analysis of the sex-determining gene Amelogenin, four conventional STR (short tandem repeat; THO1, D18S51, D21S11 and FGA) loci with a reduced amplicon size and four miniSTR loci (D1S1677, D2S441, D10S1248 and D22S1045). A concordance study in a population of 198 Belgians revealed no differences for the convent...
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It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is...
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Dank der begeisterten Hilfe Tausender europäischer Humangenetiker, die sich direkt und indirekt an der Umsetzung der Ziele des Exzellenznetzwerks (NoE) EuroGentest beteiligt haben und mit der Unterstützung der European Society of Human Genetics (ESHG) hat EuroGentest in den ersten drei Jahren eine Reihe von Produkten geliefert, die der „Genetics Co...
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Background: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 mutations identified in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Mutations in the CFTR gene may be also causative for CBAVD (Congenital Bilateral Absence of the Vas Deferens). The type and distribution of muta...
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Dank der begeisterten Hilfe Tausender europäischer Humangenetiker, die sich direkt und indirekt an der Umsetzung der Ziele des Exzellenznetzwerks (NoE) EuroGentest beteiligt haben und mit der Unterstützung der European Society of Human Genetics (ESHG) hat EuroGentest in den ersten drei Jahren eine Reihe von Produkten geliefert, die der ,,Genetics C...
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The association of some HLA class II alleles with multiple sclerosis (MS) has been amply documented. In the present study the role of HLA class II haplotypes and genotypes and of polymorphic amino acids at the DR/S1 locus, located in the antigen binding groove and the CD4 binding domain of the DRβ1 chain, were studied in 78 unrelated Caucasian chro...
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The complexity of the periodontal microbiota resembles that of the gastro-intestinal tract, where infectious diseases are treatable via probiotics. In the oropharyngeal region, probiotic or replacement therapies have shown some benefit in the prevention of dental caries, otitis media, and pharyngitis, but their effectiveness in the treatment of per...
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We evaluated the TNF-beta gene polymorphism in two HLA-associated autoimmune diseases, multiple sclerosis (MS) and rheumatoid arthritis (RA). The TNF-beta allele and genotype frequencies were not significantly different in the patient populations, compared to controls. An increased frequency of the TNF-beta*2 allele was observed in HLA-DR2(+) vs. H...
Article
RNA and protein analysis revealed the consistent upregulation of the neural transcription factors ZIC1 and ZIC4 in desmoid tumors and other fibroproliferative disorders. The 5' flanking region of the ZIC1 promoter was unmethylated in desmoid tumor fibroblasts, while a hypermethylated ZIC1 promoter was found in human and mouse cell lines not express...
Article
Here for the first time we showed, despite the oncogenic mutations in beta-Catenin, that TGF-beta is a modulator of beta-Catenin levels in tumoral fibroblasts as well as non-tumoral fibroblasts. The results show that the TGF-beta pathway is active in desmoids cells and in in situ tumors. A dose dependent increase in beta-Catenin protein levels was...
Article
It is known that beneficial bacteria can suppress the emergence of pathogenic bacteria, particularly in the gastrointestinal tract. This study examined the potential for a similar suppression of Aggregatibacter (formerly Actinobacillus) actinomycetemcomitans colonization of epithelial cells, due to its potential relevance in periodontal diseases. S...
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Overexpression of Wilms' tumour gene (WT1) has been proven in several tumours. Previous research of our group on the cell cycle of uterine leiomyosarcoma (LMS) and carcinosarcoma (CS) suggested a possible role for WT1. We therefore intended to further explore the expression pattern of WT1 in uterine sarcomas. 27 CS, 38 LMS, 15 endometrial stromal s...
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During duplicate analysis of buccal swabs from 1,377 individuals with 2 commercial short tandem repeat (STR) kits, we observed 8 discordant phenotypes with SGM Plus (SGM, second generation multiplex) for the STRs THO1 (2), vWA (4) and D18S51 (2), and 1 discrepancy with PowerPlex 16 for D18S51. One individual even showed two discrepancies (vWA and T...
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Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the hum...
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Inactivation of the chloride channel cystic fibrosis transmembrane conductance regulator (CFTR) causes cystic fibrosis (CF). Although CFTR is expressed in the kidney, no overwhelming renal phenotype has been documented in patients with CF. This study investigated the expression, subcellular distribution, and processing of CFTR in the kidney; used v...
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The objective of this study is to review ethical and clinical guidelines and position papers concerning the presymptomatic and predictive genetic testing of minors. The databases Medline, Philosopher's Index, Biological Abstracts, Web of Science and Google Scholar were searched using keywords relating to the presymptomatic and predictive testing of...
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The CFTR mutations in cystic fibrosis (CF) lead to ion transport anomalities which predispose to chronic infection and inflammation of CF airways as the major determinants for morbidity and mortality in CF. Discordant clinical phenotypes of siblings with identical CFTR mutations and the large variability of clinical manifestations of patients who a...
Article
This study describes the quantitative and qualitative results of the evaluation of different methods (cellotape, swab or gauze) for recovering fingerprints from objects, the isolation of ‘Low Copy Number’ DNA (LCN-DNA) with silica or magnetic beads, the influence of time on the conservation of DNA on swabs used for sampling fingerprints and the abi...