Alexander Hoischen is affiliated with the department of Human Genetics and the department of Internal Medicine of the Radboudumc, and operates within the Radboudumc research theme Infectious diseases and global health. He and his research group are fascinated by the application of latest genomics technologies to understand the genetic basis of rare (immune) disorders. He is also the Scientific Director of the Radboud Technology Center Genomics.

Technological advances summarized as next generation sequencing (NGS) have changed human genetics dramatically in the last 15 years. For the first time we can read the genome, or the coding portion of the genome a.k.a. the exome, of many individuals; and this has changed the research and diagnostics of human diseases, in particular rare diseases. In addition, novel NGS-based approaches allow to read DNA with much improved accuracy allowing somatic mutation detection in an unprecedented way.

Our group has been involved in several discoveries of novel rare disease genes, with a recent focus on rare immunological diseases. We however face the challenge that in a large proportion of patients (30-80% depending on disease) with a likely rare genetic disease remains unexplained even after exome sequencing. Within the group ‘genomic technologies and immuno-genomics’, we aim to establish novel –omics methods and integrate the novel –omics data with existing data to boost the discovery of genetic causes of (rare (immunological)) diseases.

Within our group and together with our collaborators we envision novel themes that all go ‘beyond the exome’ and will ultimately improve (rare) disease genetics in research and diagnostics. Specific focus will be on: 1. Better analyses of existing exomes and move to genomes, 2. long-read genomes, 3. integration of the effect of rare and common variants, 4. integration of transcriptomics and genomics (and other –omics), 5. more accurate sequencing for somatic mutation detection, 6. early adoption of latest technologies for the benefit of immunology, pathology, and genetics.

Christel Depienne is Associate Professor at the University Hospital of Essen in Germany. She received a PhD in molecular and cellular biology in Paris, France in 2000. Since 2002, she has led research projects aiming to identify new genes involved in neurodevelopmental disorders, including epilepsy. She also has a strong interest in establishing genotype-phenotype correlations and understanding the mechanisms associated with incomplete penetrance and variable expressivity.

Dr. Hartevelds principle areas of research and diagnostics are phenotype-genotype correlation of hemoglobinopathies and the technical improvement of diagnostics. He is responsible for the diagnosis of carriers and patients and for prenatal diagnosis for thalassemia Major and Sickle Cell disease in the Dutch Reference Laboratory for Hemoglobinopathies within the department of Human and Clinical Genetics at the Leiden University Medical Center in Leiden, The Netherlands.

Jodie Whitehurst is the creator of The Language Scene, an organisation offering professional development, empowering language educators to invigorate their lessons through drama. Formerly a secondary school Drama and English teacher, she also teaches EAL and ‘Drama for Language and Life’ classes to adults across the Adult Community Education and ELICOS sectors. As an ISSI Fellowship recipient, Jodie has travelled internationally to research the benefits and best practice of teaching EAL through drama. In 2021, she was honoured to be selected as a finalist for the Victorian Learn Local Pre-Accredited Trainer Award. 

Walther Parson received his PhD in forensic molecular biology in 1999 and holds an associate professorship since his habilitation in 2001 at the Institute of Legal Medicine, Innsbruck Medical University. WP was primarily responsible for research which resulted in the set up of the National DNA Database Laboratory of the Austrian Federal Ministry of the Interior in Innsbruck between 1994 and 1996, which he is currently heading. WP is a member of international forensic working groups including the ENFSI DNA Working Group (European Network of Forensic Science Institutes), EDNAP (European DNA Profiling Group), ISFG (International Society of Forensic Genetics) and others and works as advisor on international boards and steering committees such as the EAFS (European Academy of Forensic Science) and the ICMP (International Commission on Missing Persons).

WP leads a very active group of scientists that published more than 100 peer-reviewed articles in the forensic and medical genetic field within the past 5 years. This group received more than ten national and international scientific prizes in the same time frame. WP was awarded the bi-annual scientific price of the German Society of Legal Medicine in 2004 for closing the ranks between forensic and medical genetics and he received the scientific prize of the International Society of Forensic Genetics in 2005 for his work in the field of forensic mtDNA research. In 2009 he was appointed active member of the “German Academy of Sciences Leopoldina”. WP is member of the advisory board of the journals “International Journal of Legal Medicine” and “Forensic Science international Genetics”.

WP was repeatedly consigned to handle international requests on DNA fingerprinting such as the DNA identification of the Asian Tsunami-victims from Sri Lanka, the DNA identification of the remains of the two missing children of the Russian Tsar family or historical cases including the investigations on the putative Mozart skull and the Friedrich v. Schiller Code.

WP has focused part of his research on the development and curation of Internet-accessible forensic resources such as the ENFSI DNA WG STR-BASE and EMPOP (EDNAP mtDNA Population database), a global mtDNA databank that has refined forensic mtDNA quality standards by development and dissemination of new research protocols, guidelines and software that aid the processes of mtDNA data generation and evaluation.
 

Head of the Institute of Medical Genetics and Applied Genomics
University of Tübingen, Germany

Prof. Olaf Riess, MD, is head of the Institute of Medical Genetics and Applied Genomics and has more than 20 years of experience in genetically caused disorders. Main focus on neurodegenerative diseases; both from the clinical as well as from the basic research perspective. Special focus on Parkinson, Dystonia and Spinocerebellar Ataxias. He has been coordinator of numerous international, European and national funded consortia. Published more than 250 papers.