Genetics Conference Research Articles

Thirty-years of genetic counselling education in Europe: a growing professional area.

Genetic counselling education and training in Europe spans a continuum of 30 years. More master programs are opening due the demand for qualified genetic counselors. This report describes the evolution of training in Europe and the current state of genetic counselling training programs. Directors of master programs in Europe were invited to complete an online survey describing their program, including year of commencement, course duration, number of students and frequency of intake and number graduating. Results of the survey were presented at a closed meeting at the European Society of Human Genetics conference in 2022 along with a facilitated stakeholder engagement session in which 19 professionals participated to understand the challenges in delivering genetic counselling education in Europe. A total of 10 active programs exists in Europe with the first training program starting in 1992. The majority of training programs have a 2-year duration, with just over half of programs having an annual intake of students. Up to May 2022, 710 students have graduated from genetic counseling training programs across Europe. Of these, 670 students graduated from European Board of Medical Genetics-registered programs. Arranging clinical placements, clinical and counseling supervision of students, research collaboration for MSc research projects and incorporating genomics into the curriculum were identified as current challenges for genetic counseling education. Genetic counseling is still a developing profession in Europe and this historical and current view of the European genetic counselor pathways, allows for educational and professional standards to be examined as the profession evolves into the future.

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations.

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations.

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: e-Posters.

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: e-Posters.

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference.

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference.

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Hybrid Posters.

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Hybrid Posters.

Abstracts from the 55th European Society of Human Genetics (ESHG) Conference.

s from the 55th European Society of Human Genetics Conference: Oral PresentationsPlenary sessionsPL1 Opening PlenaryPL2 What’s New? Highlight SessionPL3 ELPAG Award LecturePL5 ESHG Award LectureConcurrent symposiaS01 Reproductive carrier screening in 2022S02 Methods for admixed populationsS03 Personalized care in breast cancer patientsS04 How do we deliver genomics education for all?S05 Chromothripsis and complex rearrangementsS06 Disorders of lysosomal biogenesis and autophagyS07 Cell lineages and organoidsS09 Mutation signaturesS10 Left/Right patterning/heterotaxyS11 Peopling the world: One archipelago at a timeS12 The genetics of omics and beyondS13 Unstable heritable genomic variations and cancer developmentS14 Predictive genetic counselling for neurodegenerative conditionsS15 Genetic architecture of the human faceS18 The importance of somatic variationS19 Polygenic scores: from methods to applicationsS20 Cross-cultural communication and counsellingS21 Translational genetics of boneS23 Non-coding RNAs in biology and diseaseS25 Multiomics for diagnosticsS26 Federation of genomic medicine databasesEducational sessionsE02 Genetics, 200 years after the births of Mendel and GaltonE04 ESHG-Y: Filling the gaps by publishing negative results in geneticsE05 MosaicismE06 Genetic discrimination: Surveying the ethico-legal landscapeE07 Progress of imputationE09 Pharmacogenomics for personalized drug treatmentE11 New treatments for congenital disordersE12 Inherited metabolic disorders with acute presentationsE14 Precision medicine in the digital health eraConcurrent sessionsC01 New genes in NDDsC02 Hereditary cancer syndromes and risk assessmentC03 Cellular differentiation and regulationC04 Unravelling causes and mechanisms of multiple congenital anomaliesC05 Population and Evolutionary GeneticsC06 Counselling, Education and Service DeliveryC07 Metabolic and mitochondrial diseasesC08 New findings for old NDD genesC09 Cardiac and neuromuscular geneticsC10 Internal organs and ImmunologyC11 New diagnostics and treatmentsC12 GWASC13 Patient Views on Clinical GeneticsC14 Late Breaking AbstractsC16 Prenatal GeneticsC17 Clinical impact of molecular tumor profilingC18 Machine learning, bioinformatics and biostatisticsC19 New gene defects and pathways in syndromic conditionsC20 Non-coding genome variation in Mendelian diseasesC21 Different strategies to unravel the genetic basis of NDDsC22 Innovation in genetic risk assessment and diagnosticsC24 Molecular mechanism in cancerC25 Reproductive GeneticsC26 New genes in multiple congenital anomaliesC27 New approaches and large datasets to unravel human traitsC28 Novel neurogenetic disordersC29 Eye Genetics

Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters

Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters

Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations.

C14 Late Breaking AbstractsC14.1 Progressive liver, kidney and heart degeneration in adults affected by TULP3 mutationsElisabeth Ott1, John Devane1, Eric G. Olinger2, Daniel Epting1, Eva Decker3, Anja Friedrich3, Nadine Bachmann3, Gina Renschler3, Tobias Eisenberger3, Genomics England Research Consortium4, Inga Gruenewald5, Martin Konrad6, Jens König6, Bernhard Schlevogt7, John Sayer8, Carsten Bergmann 1;3 1Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany; 2Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom; 3Medizinische Genetik Mainz, Mainz, Germany; 4Genomics England Research Consortium, London, Germany; 5Institute for Pathology, University Hospital Münster, Münster, Germany; 6Department of General Pediatrics, University Hospital Münster, Münster, Germany; 7Department of Internal Medicine B, Gastroenterology, University Hospital Münster, Münster, Germany; 8Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom Background/Objectives: Organ fibrosis is an endpoint of many diseases. Ciliopathies usually start early in life and represent a considerable disease burden in paediatric patients. Methods: We performed NGS, clinical, imaging and histopathological analysis involving eight unrelated families. Mechanistic studies were conducted using patient liver, heart and kidney biopsies, a vertebrate model and patient cells. Results: We detected biallelic deleterious variants in TULP3, a critical adapter protein for ciliary trafficking, in 15 patients who presented with progressive degenerative disease in different organs including fibrocystic kidney disease, liver fibrosis and hypertrophic cardiomyopathy. Liver biopsies revealed a distinct fibrotic pattern not in line with ductal plate malformation usually seen in paediatric ciliopathies and myocardial fibrosis followed an atypical pattern reminiscent of systemic disease with cardiac involvement. We recapitulated the human phenotype in zebrafish as a vertebrate model and confirmed disruption of ciliary cargo composition in patient-derived primary cells. Additionally, we validated a novel interaction between TULP3 and the nuclear deacetylase SIRT1, with roles in DNA damage repair and fibrosis. Increased levels of DNA damage were also seen in patient cells. Patient-cell based transcriptomic studies highlighted the upregulation of profibrotic pathways with gene clusters for hypertrophic cardiomyopathy, WNT and TGFß signalling. Conclusion: These findings identify a novel monogenic cause for progressive degenerative disease of major organs in which patients benefit from early detection and improved clinical management. Elucidation of mechanisms crucial for well-balancing DNA-damage repair and tissue maintenance will help guiding novel therapeutic avenues for this and similar genetic and non-genomic diseases.

Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters

Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters

Health Equity in Sickle Cell Research and Access to Therapy

Health Equity in Sickle Cell Research and Access to Therapy

Towards a Fungal Science That Is Independent of Researchers' Gender.

The main drivers of gender mainstreaming in basic and clinical research appear to be funding agencies and scientific journals. Some funding agencies have already recognized the importance of their actions for the global development of ideas in science, but further targeted efforts are needed. The challenges for women scientists in fungal research appear to be similar to those in other science, technology, engineering, and mathematics disciplines, although the gender gap in mycology publishing appears to be less pronounced; however, women are underrepresented as last (corresponding) authors. Two examples of best practices to bridge the gap have been promoted in the fungal community: “power hour” and a central resource database for women researchers of fungi and oomycetes. A more balanced ratio of women researchers among (plenary) session speakers, (plenary) session chairs, and committee members at the recent fungal genetics conference is an encouraging sign that the gender gap can be closed. The editorial policy of some journals follows the guidance “Sex and Gender Equality in Research,” and other journals should follow, and indicate the gender ratio among authors and reviewers.

Abstracts from the 54th European Society of Human Genetics (ESHG) Conference.

s from the 54th European Society of Human Genetics Conference: oral presentationsPlenary sessionsPL1 Opening PlenaryPL2 What’s New? Highlight SessionPL4 Mendel Award LectureConcurrent symposiaS01 Machine learning methods for prioritising genetic variantsS02 Spatial omicsS03 TransposonsS04 Impact of GDPR on genomic data sharingS05 Endogenous and exogenous mutagenesis in cancerS06 Comparative genomics across species and populationsS07 Mind the gap: Translating genomic advances into clinical careS08 Single cell genomics in cancerS09 Biobanks in under-represented populationsS10 Gene-based therapy for inherited liver diseasesS11 Prevention, detection, and therapy in cancerS12 Functional annotation of genomic variationS13 Beauty of gametogenesisS14 Genome architectureS15 Cells competing cells - mosaicism and cancerS16 ESHG-ASHG Building Bridges: Global genetics towards a socially just practiceS17 Biases in genetic studies: Estimation and impactS18 Overgrowth syndromes, from discovery to therapyS20 Counselling Over Various Informatic Devices: Lessons from Covid-19S21 Delivering the promise of RNA therapeuticsS22 Integrated approaches for ciliopathiesEducational sessionsE01 New technologiesE02 ESHG-Y: Human organoids as genetic disease modelsE03 Translational collaborations in hereditary cancerE04 Dealing with uncertainty in genomic medicineE05 Update on imprinting disordersE06 Pharmacogenomics in the clinicE08 Variant interpretation in the clinicE09 What’s new in preimplantation genetic testing?E11 Polygenic risks and meE12 Bayesian methods applied in clinical settingsE13 Mapping the human body at the cellular levelE14 DNA methylation in Mendelian diseasesE15 Selection and population structure in biobank scale dataE16 Advances in Mendelian randomisationE17 Chromosomal instability across lifetimeE18 Introduction to statistical analysis of genome-wide association studies (GWAS)E19 Precision medicine in underserved populationsConcurrent sessionsC01 Developmental disorders & syndromes IC02 Cardiovascular disordersC03 Bioinformatics, machine learning and statistical methodsC04 Unraveling the complexity of neuropsychiatric geneticsC05 Reproduction is hot!C06 COVID-19 GenomicsC07 Novel insights in inherited metabolic diseasesC08 Skeletal and connective tissue disordersC09 Sensory disorders: multi-omics and long-read sequencingC10 Genome-wide Association StudiesC11 New technologies and better diagnosticsC12 Counselling, communication and service deliveryC13 Cancer susceptibility: From mechanisms to clinicC14 Advances in neurogenetics: From diagnosis to treatmentC15 Pleiotropic diseases: diagnosis and mechanismsC16 Monogenic neurodevelopmental disordersC17 Population genetics and genetic epidemiologyC18 Functional genomics and transcriptomicsC19 ELSI in genomicsC20 From mechanisms to therapeutic insights in cancerC21 Clinical immunology and novel therapies of genetic diseasesC22 Developmental disorders & syndromes IIC23 Internal organs - Kidney, bowel, fatC24 Genome variation and architectureC25 Using genomics to personalise medicineC26 Late Breaking

Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters.

Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters.

Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: Oral Presentations.

Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: Oral Presentations.

GECCO 2021

The 2021 Genetic and Evolutionary Computation Conference (GECCO 2021) was planned to be held in hybrid mode in Lille, France, on July 10th-14th, 2021. After a careful analysis of the evolution of the pandemic and the results of a poll to frequent attendees on the preferred form of attendance, a decision was made in mid-December to run GECCO'21 in online/virtual mode only. This report provides statistics about submissions and authorship, and some comments about the evolution and growth of GECCO.

34th International mammalian genome conference: meeting overview.

The 34th International Mammalian Genome Conference (IMGC) was held in conjunction with The Allied Genetics Conference (TAGC2020). Scientists from more than 30 countries participated in TAGC2020 to share advances in genetics and genomics research across species. The mammalian section, represented mostly by International Mammalian Genome Society (IMGS) members, had 239 in-person registrants and the number of registrants grew to 3520 virtual attendees when the meeting was converted from an in-person format to a virtual format. A diverse attendance of pre-doctoral and post-doctoral trainees, young investigators, established researchers, clinicians, bioinformaticians, and computational biologists enjoyed a rich scientific program selected from 184 submitted (Mammalian) abstracts in the fields of epigenetics, system genetics, developmental biology, cancer, human disease modeling, technical advances, and bioinformatics.

European Society of Human Genetics (ESHG) Conference. Virtual - August 28-31, 2021

European Society of Human Genetics (ESHG) Conference. Virtual - August 28-31, 2021

Inbreeding evaluation in Latvian local cattle breeds

Submitted 2020-06-26 | Accepted 2020-08-18 | Available 2020-12-01 https://doi.org/10.15414/afz.2020.23.mi-fpap.52-57 In this study, inbreeding and effective population size of the Latvian gene conservation cattle breeds Latvian Brown (LB) and Latvian Blue (LZ) were analysed. The study was based on the pedigree data of 319 LB and 712 LZ cows that were alive at the time of data selection. The inbreeding level in LB and LZ has been increasing during the last decade and at the end of the year 2019, it was 2.61% and 5.20% for LB and LZ, respectively. The average increase of inbreeding from 2010 to 2019 was 1.80% for LB and 2.26% for LZ. The proportions of inbred animals with an inbreeding level greater than 10% were 0.60% and 2.14% in LB and LZ, respectively. Effective population size based on the rate of inbreeding decreased and was close or within the minimum range of recommended effective population size. The current study demonstrates that the inbreeding has increased, and the effective population size decreased in both populations. Therefore, the breeding organizations have to monitor and control the rate of inbreeding in LB and LZ populations over time. Keywords: inbreeding, Latvian Brown, Latvian Blue, native breed References Addo, S., Schäler, J., Hinrichs, D. and Thaller, G. E. (2017). Genetic diversity and ancestral history of the German Angler and the Red-and-White dual-purpose cattle breeds assessed through pedigree analysis. Agricultural Sciences, 8, 1033-1047. https://doi.org/10.4236/as.2017.89075 Doekes, H. P., Veerkamp, R. F., Bijma, P., de Jong, G., Hiemstra, S. J. and Windig, J. J. (2019). Inbreeding depression due to recent and ancient inbreeding in Dutch Holstein-Friesian dairy cattle. Genetics Selection Evolution, 51(1), 54. https://doi.org/10.1186/s12711-019-0497-z FAO. ©2019. Domestic Animal Diversity Information System (DAD-IS). Retrieved May 2, 2020 from http://www.fao.org/dad-is. GrÄ«slis, Z. (2006). Blue cows in Vidzeme. Jelgava. BÅ SA “Zilā govs”, 1–36. In Latvian. GrÄ«slis, Z. and Å imkevica, D. (2018). Latvian Blue selection. BÅ SA “Zilā govs”, Jelgava, 1–43. In Latvian. GrÄ«slis, Z., Markey, L. and Zutere, R. (2005). The inbreeding analysis in Latvian Blue cow population. Proceedings of the 11th Baltic animal breeding and genetics conference, Lithuania, 65–69. Groeneveld, E., Westhuizen, B.v.d., Maiwashe, A., Voordewind, F. and Ferraz, J. B. S. (2009). POPREP: a generic report for population management. Genetics and Molecular Research, 8(3), 1158–1178. https://doi.org/10.4238/vol8-3gmr648 Jonkus, D., Paura, L. and Cielava, L. (2020). Longevity and milk production efficiency of Latvian local breeds during last decades. Agronomy Research, 18(S2), 1316–1322. https://doi.org/10.15159/ar.20.064 LDC. (2019). Latvian brown cow conservation program from 2019 and nearest future. Retrieved May 26, 2020 from https://www.ldc.gov.lv/upload/doc/doc20.pdf. In Latvian Mäki-Tanila, A., Fernandez, J., Toro, M. and Meuwissen, T. (2010) Assessment and management or genetic variation. In Mäki-Tanila, A. et al. (eds.) Local cattle breeds in Europe. Development of policies and strategies for self-sustaining breeds. The Netherlands: Wageningen Academic Publishers (pp. 98–119) Mc Parland, S., Kearney, F. and Berry, D. P. (2009). Purging of inbreeding depression within the Irish Holstein-Friesian population. Genetics Selection Evolution, 41, 16. https://doi.org/10.1186/1297-9686-41-16 Mc Parland, S., Kearney, J. F., Rath, M. and Berry, D. P. (2007). Inbreeding effects on milk production, calving performance, fertility, and conformation in Irish Holstein-Friesians. Journal of Dairy Science, 90(9), 4411–4419. https://doi.org/10.3168/jds.2007-0227 Oldenbroek, K. and Van der Waaij, L. (2015). Animal Breeding and Genetics for BSc students. Centre for Genetic Resources and Animal Breeding and Genomics Group, Wageningen University and Research Centre, the Netherlands. Retrieved May 26, 2020 from https://wiki.groenkennisnet.nl/display/TAB/ Sørensen, A. C., Sørensen, M. K. and Berg, P. (2005). Inbreeding in Danish dairy cattle breeds. Journal of Dairy Science, 88(5), 1865–1872. https://doi.org/10.3168/jds.S0022-0302(05)72861-7 Zutere, R., GrÄ«slis, Z. and Sjakste, T. 2006. Breeding programs in Latvian livestock. Proceedings of the 12th Baltic animal breeding conference. Jurmala, Latvia, 6–13.   Â

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations.