OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
Archiving: full-text archived in CLOCKSS.
Rapid publication: manuscripts are undertaken in 15.0 days from acceptance to publication (median values for papers published in this journal in the second half of 2021, 1-2 days of FREE language polishing time is also included in this period).
Received: 22 August 2021; Published: 21 January 2022; doi: 10.21926/obm.genet.2201146
Investigating the historical origins of a well-accepted health program across a region, such as newborn screening in Latin America, has the potential to reveal the role of historically-specific drivers in shaping national health policy. We reviewed published reports on NBS in Latin Ameri [...]
Received: 19 October 2021; Published: 11 January 2022; doi: 10.21926/obm.genet.2201145
The evolution of hominins, members of the zoological tribe Hominini, has been a much-studied topic, and the construction of phylogenetic trees has been the key method in molecular evolutionary studies. How scientists determine the phylogenetic trees are governed by the assumptions they p [...]
Received: 05 January 2022; Published: 06 January 2022; doi: 10.21926/obm.genet.2201144
The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2021. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through [...]
Received: 17 June 2021; Published: 17 November 2021; doi: 10.21926/obm.genet.2104143
Advances in clinical psychiatry have been less than hoped for relative to the achievements in neuroscience. However, developments in neuromodulation and psychedelic therapy are promising. The efficacy of such treatments and canonical pharmacotherapies benefit from genetics and personalized medicine. [...]
Would I have Wanted to Know? A Qualitative Exploration of Women’s Attitudes, Beliefs and Concerns about Non-Invasive Prenatal Testing for de novo Genetic Conditions after having a Child with a de novo Genetic Disorder
Received: 07 September 2021; Published: 03 November 2021; doi: 10.21926/obm.genet.2104142
Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by par [...]
Unexpected Associations between the Number of FRAXE Repeats in Boys and Evidence of Diabetes in Their Mothers and Maternal Grandmothers
by Jean GOLDING , Rosie Clark , Steven Gregory , Genette Ellis , Matthew Suderman , Yasmin Iles-Caven and Marcus Pembrey
Received: 17 May 2021; Published: 29 October 2021; doi: 10.21926/obm.genet.2104141
The FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller num [...]
Received: 15 July 2021; Published: 09 October 2021; doi: 10.21926/obm.genet.2104140
In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and c [...]
Addressing Uncertainty: The Emergence of the CRMS/CFSPID Diagnostic Category Following Newborn Screening for Cystic Fibrosis
Received: 29 July 2021; Published: 29 September 2021; doi: 10.21926/obm.genet.2103139
This article uses cystic fibrosis as a case study to examine how physicians and scientists have navigated uncertainty following newborn screening. Despite the many benefits of newborn screening, including earlier diagnosis, therapeutic intervention, and a reduced diagnostic odyssey, this [...]
Received: 16 June 2021; Published: 27 September 2021; doi: 10.21926/obm.genet.2103138
Cell-free DNA has emerged as the most reliable, non-invasive prenatal screening tool for fetal aneuploidies. It has come to replace the previously widely used quadruple screen offered in the second trimester of pregnancy. This change comes with improved detection [...]
Received: 09 June 2021; Published: 15 September 2021; doi: 10.21926/obm.genet.2103137
Plant breeding programs have used conventional breeding methods, such as hybridization, induced mutations, and other methods to manipulate the plant genome within the species' natural genetic boundaries to improve crop varieties. However, repeatedly using conventional breeding methods mi [...]
by Robert Resta
Received: 22 June 2021; Published: 01 September 2021; doi: 10.21926/obm.genet.2103136
The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most com [...]
by Seria Tsan , Stefanie Kankel , Niklas Padutsch , Luisa Person , Monika Ziegler , Ahmed Al-Rikabi , Anja Weise , Kristin Mrasek and Thomas Liehr
Received: 16 April 2021; Published: 25 August 2021; doi: 10.21926/obm.genet.2103135
Cryptic balanced chromosomal aberrations can be an underlying cause of infertility. In 2003 Cockwell and coworkers highlighted the relevance of euchromatic pericentric regions of acrocentric chromosomes that may be a yet ignored genomic region hosting cryptic rearrangements. Here we offe [...]
Encoding, Regression, and Classification of Transcription Factors’ Specificity and Methylation Effects
by Zheng Zuo
Received: 01 February 2021; Published: 16 August 2021; doi: 10.21926/obm.genet.2103134
The methylation effects on protein-DNA interactions, which can be perceived as a special kind of specificity of transcription factors, have been successfully quantified in the last years by various methods. In this work, I give a summary about the sequence encoding scheme, the underlying [...]
Received: 23 March 2021; Published: 30 July 2021; doi: 10.21926/obm.genet.2103133
“Epigenetics is the study of how your behaviors and environment can cause changes that affect the way your genes work. Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA seq [...]
Received: 29 June 2021; Published: 19 July 2021; doi: 10.21926/obm.genet.2103132
Medical genetics plays an important role in the screening and prevention of numerous diseases. Thus, it is important to develop effective screening and prevention programs and improve the assessment of the susceptibility of diseases. The development of screening and prevention programs d [...]
Received: 08 December 2020; Published: 24 May 2021; doi: 10.21926/obm.genet.2102131
Feline cancers have not been studied as extensively as canine cancers, though they may offer similar advantages, with cats being immunocompetent animals subject to similar conditions as their human counterparts. The most common feline cancers include lymphoma, squamous cell carcinoma, sa [...]
Imagining Life with a Genetic Disorder: The Challenge of Evaluating Health States that Exist from Birth
Received: 29 March 2021; Published: 14 May 2021; doi: 10.21926/obm.genet.2102130
This article explores difficulties encountered by those with no personal experience of a chronic disease or disability in accurately evaluating the quality of life with a condition present from birth. In most countries, cost-effectiveness analysis relies on ratings of health states by me [...]
Role of DNA Damage and MMP Loss in Radiosensitization-Induced Apoptosis by Ellagic Acid in HeLa Cells
Received: 22 September 2020; Published: 14 May 2021; doi: 10.21926/obm.genet.2102129
Ellagic acid (EA) is a polyphenol found in grapes, pomegranates, walnuts, etc. exhibits anti-cancer properties. The current study was conducted to understand the radiosensitizing role of EA on HeLa cells. Monotherapy of EA and radiation was initially studied on HeLa cells. The addition of EA before [...]
Modulation of Gene Expression in Human Breast Cancer MCF7 and Prostate Cancer PC3 Cells by the Human Copper-Binding Peptide GHK-Cu.
Received: 20 January 2021; Published: 06 April 2021; doi: 10.21926/obm.genet.2102128
Breast cancer is the most commonly diagnosed cancer in women, while prostate cancer is the most common cancer affecting men. Despite significant advances in diagnostics and treatment, these cancers have a high risk of metastases and greatly reduce quality of life. Recently, it has been established t [...]
Received: 11 January 2021; Published: 24 March 2021; doi: 10.21926/obm.genet.2101127
PD-L1 is an immune checkpoint protein that is frequently overexpressed by the cells in the tumor microenvironment. PD-L1 binds to PD-1 present on the activated antitumor T-cells, which allows for tumor immune escape. The ability of the PD-1/PD-L1 axis to suppress antitumor immunity enables its appli [...]
Development of a Novel Pipette Tip-Aided Cell Cloning Method for The Effective Isolation of Genome-Edited Porcine Cell
Received: 11 October 2020; Published: 10 March 2021; doi: 10.21926/obm.genet.2101126
Direct colony cloning of adherent mammalian cells using rings or dilution cloning has been used frequently for obtaining stable transfectants after gene delivery. As an alternative to these methods, successful isolation of the cells in a single colony is possible by placing a trypsin-immersed small [...]
Received: 31 December 2020; Published: 08 March 2021; doi: 10.21926/obm.genet.2101125
A large proportion of rare disease patients remain undiagnosed and the vast majority of such conditions remain untreatable whether diagnosed or not. RNA splicing analysis is able to increase the diagnostic rate in rare disease by identifying cryptic splicing mutations and can help in interpreting th [...]
by Mohamed Abutineh , Nicholas Pizzo , Nicholas Nifakos , Xiao-Lu Jin , John M. Harlin and Xing-Hai Zhang
Received: 26 October 2020; Published: 18 February 2021; doi: 10.21926/obm.genet.2101124
Citrus is an important group of globally produced fruit crops, holding great economic, cultural, and health value. Belonging to the Rutacaeae family, the genus Citrus includes some of the most iconic and widely appreciated variants of fruits such as the orange, lemon, lime, grapefruit, and tangerine [...]
In vitro Electroporation in the Presence of CRISPR/Cas9 Reagents as a Safe and Effective Method for Producing Biallelic Knock-Out Porcine Embryos
Received: 01 September 2020; Published: 18 February 2021; doi: 10.21926/obm.genet.2101123
The production of genetically modified (GM) pigs is considered valuable in biomedical research for the development of model animals for various diseases and pigs with resistance against viral infection. The porcine genome may be modified using several methods, such as somatic cell nuclear transfer ( [...]
Received: 07 January 2021; Published: 07 January 2021; doi: 10.21926/obm.genet.2101122
The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2020. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contrib [...]
We sincerely welcome Professor John Marshall from Institute of Ophthalmology (UCL), United Kingdom to join the Editorial Board of OBM Genetics. Professor Marshall has extensive experience in ophthalmology, inherited retinal disease, diabetes, glaucoma, neurodegenerative diseases, etc. We are very grateful to Prof. Marshall for his participation and support.
We sincerely welcome Jaroslav Alois Hubáček, PhD, DSc., from Institute for Clinical and Experimental Medicine, Czech Republic, to join the Editorial Board of OBM Genetics. Dr. Hubáček has extensive experience in population population genetics, gene, diabetes, cardiovascular genetics, genetic predisposition of noncommunicable diseases, etc. We are very grateful to Prof. Hubáček for his participation and support.
We sincerely welcome Professor Jose J. G. Marin from University of Salamanca, Spain, to join the Editorial Board of OBM Genetics. Professor Marin has extensive experience in physiology, pharmacology, liver cancer, chemotherapy, genetics, molecular, cell, etc. We are grateful to Professor Marin for his participation and support.
We sincerely welcome Dr. Tapan K Bera from National Cancer Institute, USA, to join the Editorial Board of OBM Genetics. Dr. Bera has extensive experience in antibody engineering; immunotherapy; recombinant immunotoxin; multiple myeloma; BCMA; mesothelin, etc. We are grateful to Dr. Bera for his participation and support.
We sincerely welcome Professor Veena N Rao from Morehouse School of Medicine, USA, to join the Editorial Board of OBM Genetics. Professor Rao has extensive experience in triple negative breast cancers, ovarian cancers, tumor suppressor genes, biomarkers, cancer biology, epigenetics, protein-protein interactions, gene therapy, molecular biology, BRCA1, post translational modifications, precision medicine, etc. We are grateful to Professor Rao for her participation and support.
We sincerely welcome Professor James CS Chim from University of Hong Kong, Hong Kong, to join the Editorial Board of OBM Genetics. Professor Chim has extensive experience in DNA methylation of tumour suppressor genes, non-coding RNAs (micro-RNAs & long noncoding RNAs) in blood cancers including multiple myeloma, lymphoma and chronic lymphocytic leukemia, etc. We are grateful to Professor Chim for his participation and support.
We sincerely welcome Professor Lunawati L Bennett from Union University, USA, to join the Editorial Board of OBM Genetics. Professor Bennett has extensive experience in pharmacotherapy, pharmacogenomics, genetic disease, cancer, apoptosis, endocrine, antioxidants, natural product, nutrition, etc. We are grateful to Professor Bennett for her participation and support.
We sincerely welcome Professor Andrew Collins from University of Southampton, UK, to join the Editorial Board of OBM Genetics. Professor Collins has extensive experience in genetic epidemiology, next generation sequencing, bioinformatics, human genetics and cancer, etc. We are grateful to Professor Collins for his participation and support.
We sincerely welcome Professor Michael R. Ladomery from University of the West of England, UK, to join the Editorial Board of OBM Genetics. Professor Ladomery has extensive experience in RNA biology, alternative splicing, noncoding RNA, RNA-based cancer therapies, etc. We are grateful to Professor Ladomery for his participation and support.
We sincerely welcome Professor Katalin Csiszar from the University of Hawaii, USA, to join the Editorial Board of OBM Genetics. Professor Csiszar has extensive experience in molecular and medical genetics focused on heritable disorders associated with the extracellular matrix. We are grateful to Professor Csiszar for her participation and support.
We sincerely welcome Professor Sergei G. Tevosian from University of Florida, USA, to join the Editorial Board of OBM Genetics. Professor Tevosian has extensive experience in reproductive genetics, developmental genetics, adrenal development; developmental biology, etc. We are grateful to Professor Tevosian for his participation and support.
We sincerely welcome Professor Juraj Gregan from Comenius University, Slovakia, to join the Editorial Board of OBM Genetics. Professor Gregan has extensive experience in chromosome biology, mitosis, meiosis, etc. We are grateful to Professor Gregan for his participation and support.
We sincerely welcome Dr. Xuehuo Zeng from Case Western Reserve University, USA, to join the Editorial Board of OBM Genetics. Dr. Zeng has extensive experience in DNA damage response, molecular genetics, autophagy, cancer, etc. We are grateful to Dr. Zeng for his participation and support.
We sincerely welcome Assistant Professor Kakoli Das from Duke-NUS Graduate Medical School, Singapore, to join the Editorial Board of OBM Genetics. Dr. Das has extensive experience in molecular genetics, genetic heterogeneity, mutant, genotype, genetic diseases, etc. We are grateful to Dr. Das for her participation and support.
We sincerely welcome Professor Thomas Liehr from University Clinic Jena, Institute of Human Genetics, Germany to join the Editorial Board of OBM Genetics. Professor Liehr has extensive experience in clinical genetics, (molecular) cytogenetics, interphase architecture, ZOO-FISH, marker and derivative chromosomes, etc. We are grateful to Professor Liehr for his participation and support.
We sincerely welcome Professor Khue Vu Nguyen from University of California, United States, to join the Editorial Board of OBM Genetics. Professor Nguyen has extensive experience in molecular biology, genetic diseases, enzymology, biosensors, biopolymers, etc. We are grateful to Professor Nguyen for his participation and support.
We sincerely welcome Professor Joris A. Veltman from Newcastle University, United Kingdom, to join the Editorial Board of OBM Genetics. Professor Joris A. Veltman has extensive experience in genomics, human genetics and translational genomics. We are grateful to Professor Veltman for his participation and support.
We sincerely welcome Professor Marcel Mannens from the Academic Medical Center, University of Amsterdam, the Netherlands, to join the Editorial Board of OBM Genetics. Professor Marcel Mannens has extensive experience in genome diagnostics, cardiogenetics and epigenetics of disease. We are grateful to Professor Mannens for his participation and support.
We welcome Professor Andrés Moya from University of Valencia, Spain, to join the Editorial Board of OBM Genetics. Professor Andrés Moya is the Professor of Genetics from University of Valencia and FISABIO Chair. He has extensive experience in evolutionary genomics of bacterial endosymbionts, genomics of human pathogens and microbiome in eukaryotes. We are grateful to Professor Moya for his participation and support.
We welcome Professor Sonia M. Suter to join the Editorial Board of OBM Genetics. Professor Suter is a law professor at The George Washington University Law School, USA, where she works on legal issues in medicine and genetics as well as bioethics. She has taught Genetics and the Law, and Bioethics and the Law at the University of Michigan Law School. We are grateful to Professor Suter for her participation and support.
We welcome Professor Ruud ter Meulen from the University of Bristol, UK, to join the Editorial Board of OBM Genetics. Professor ter Meulen is particularly interested in justice in health care, the ethics of research, care of older people, and evidence-based medicine. He has published extensively in the field of bioethics, and directed several international research projects, including large-scale projects funded by the European Commission. He was also Professor for Philosophy and Ethics (1992-2005) and Director of the Institute for Bioethics (1995-2005) at the University of Maastricht. We are grateful to Professor ter Meulen for his participation and support.
We welcome Professor Miodrag Stojkovic from the University of Kragujevac, Serbia, to join the Editorial Board of OBM Genetics. Professor Stojkovic is a pioneer in human nuclear transfer (NT), derivation, growth, and differentiation of pluripotent stem cells. He is author and co-author of more than 150 scientific publications. His team is improving the conditions for the efficient differentiation of pluripotent and mesenchymal stem cells, and treatment of neurodegenerative diseases. We are grateful to Professor Stojkovic for his participation and support.
We welcome Professor Darren Griffin from the University of Kent, UK, to join the Editorial Board of OBM Genetics. Professor Griffin is a renowned scholar, specializing in genetics, chromosomes, genome evolution and infertility. We are grateful to Professor Griffin for his participation and support.
We sincerely welcome Dr. François Rousseau MD MSc FRCPC from the Laval University, Canada, to join the Editorial Board of OBM Genetics. Dr. Rousseau is a medical biochemist subspecialized in molecular genetics. He is a Professor in the Department of Molecular Biology, Medical Biochemistry and Pathology at the Faculty of Medicine, Université Laval. He leads a clinical research team at the Unité de recherche en génétique humaine et moléculaire, Centre de recherche du CHU de Québec - Hôpital Saint-François d'Assise. He also heads the Department of Medical Biology of the Québec University Hospital Centre. We are grateful to Dr. Rousseau for his participation and support
We welcome Dr. Helena Kääriäinen from the National Institute for Health and Welfare, Finland, to join the Editorial Board of OBM Genetics. Dr. Kääriäinen is a renowned specialist in medical genetics. We are grateful to Dr. Kääriäinen for her participation and support.
We sincerely welcome Dr. Milan Macek from the Charles University, Czech Republic, to join the Editorial Board of OBM Genetics. Dr. Macek is a leading geneticist, specializing in human genetics and molecular genetics, etc. We are grateful to Dr. Macek for his participation and support.
We welcome Dr. Domenico Coviello from the Galliera Hospital, Italy, to join the Editorial Board of OBM Genetics. Dr. Coviello is a renowned medical geneticist, who mainly focuses on Mendelian human genetic diseases both in cytogenetic and molecular genetics fields, etc. We are grateful to Dr. Coviello for his participation and support.
We welcome Dr. Ute Moog from the Heidelberg University, Germany, to join the Editorial Board of OBM Genetics. Dr. Moog is a renowned scholar, specializing in genetics, pediatrics, dysmorphology, intellectual disability, and neurocutaneous disorders. We are grateful to Dr. Moog for her participation and support.
We welcome Dr. Stéphane Viville from the LABORATOIRE DE DIAGNOSTIC GENETIQUE, France, to join the Editorial Board of OBM Genetics. Dr. Viville is a renowned expert, specializing in human genetics of infertility, male and female infertility, and human gametogenesis, etc. We are grateful to Dr. Viville for his participation and support.
We welcome Dr. Mark Stoneking from the Max Planck Institute for Evolutionary Anthropology and University of Leipzig, Germany, to join the Editorial Board of OBM Genetics. Dr. Stoneking is a renowned geneticist, specializing in the field of human evolution, especially the genetic evolution, origin and dispersal of modern humans. We are grateful to Dr. Stoneking for his participation and support.
The main objective of this conference is to bring people together from diverse disciplines to exchange ideas, promote cross-disciplinary collaborations and to form a synthesis of appropriate systems-level approaches. The meeting is therefore purposely broad to cover all aspects of genomics to systems biology, a unique combination that is highly appreciated by the participants. Over the past decade, this EMBL conference has therefore served as an important venue in helping to shape the field, or to be more precise to help generate a community of scientists that come from very diverse disciplines, each with the common goal to understand the systems level properties of their system of interest.
For more details, please visit: https://www.embl.de/training/events/2020/OMX20-01/
Based on the history and tradition of the previous Santorini Conferences, The 10th Santorini conference, SYSTEMS MEDICINE AND PERSONALISED HEALTH & THERAPY – The Odyssey from Hope to Practice: “Patient first – keep Ithaca always in your mind”, will take place in Santorini island from September 28th to October 1st 2020.
In continuity to the previous one (Santorini Conference 2018), The 10th Santorini Conference is using as metaphor the Greek mythology in the spirit of the island and of our thematic obstacles of personalised medicine to resolve and to overcome for the benefit of the patient.
The 10th Santorini Conference contains 8 sessions:
LIQUID BIOPSY, PAST, PRESENT, FUTURE
ADVANCES ON CELLULAR AND MULTI-OMIC APPROACHES
CANCER IMMUNOTHERAPY AND IMMUNOGENETICS
ECON-OMICS: BETTER CARE FOR BETTER COST
GENETIC SCREENING & CLINICAL APPLICATIONS
PHARMACOGENOMICS AND POST-MARKETING APPLICATIONS
For more information about registration and abstracts’ submission please visit the website: http://santoriniconference.org.
This symposium aims to further strengthen a new, highly interdisciplinary community composed of scientists from very different fields and who share a common interest in oscillatory phenomena and biological dynamics. As such, this meeting provides a unique platform for this emerging new community working at the interface between quantitative biology, complex oscillatory systems and physics.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-12/index.html
This conference aims to provide a gathering opportunity for researchers of all levels who are interested in how gene regulation participates in the development and function of the brain, with particular attention to the chromatin-based regulation of gene expression. The key objective is to bring together, in the same meeting, two groups of scientists: neuroscientists with interest in gene regulation and molecular biologists with strong expertise in the mechanisms of transcription and epigenetics that want to apply their knowledge to understanding how the brain works. We believe the two groups can learn a lot from each other and we hope this conference can function as a catalyst for scientific exchange and collaboration between them.
For more details, please visit: https://www.embl.de/training/events/2020/NEG20-01/
The ASHG 2020 Annual Meeting will take place at the San Diego Convention Center, in San Diego, California, from October 27-31, 2020. As the world’s largest human genetics and genomics meeting, ASHG 2020 provides a forum for the presentation and discussion of cutting-edge science across subdisciplines.
For more details, please visit: https://www.ashg.org/2020meeting/index.shtml
Before the genetic information stored in DNA can be used to direct cell growth and metabolism, it has to be transferred into RNA. Messenger RNAs (mRNAs) that code for proteins and noncoding RNAs are key components in the transmission of genetic information in all life forms - from viruses to complex mammalian organisms. Exciting recent findings now reveal a new layer of information added to RNAs in the form of chemical marks (the epitranscriptome) that play a critical role in gene expression control. This remarkable complexity in the lives of RNAs will be discussed at this meeting. The EMBO | EMBL Symposium “The Complex Life of RNA” will bring leaders in the RNA field together with post-docs and students, to disseminate and discuss the most recent results, and will honour Kiyoshi Nagai’s life and many contributions to the field.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-10/
Ground-breaking discoveries in cilia biology have revolutionized our understanding of the critical role of cilia in cell signalling, development, tissue homeostasis and disease. The field continues to grow rapidly as we realize that cilia are vital organelles participating in a broad range of biological processes. Cilia are antenna-like cell organelles that occur on almost all cells of the human body. Many serious diseases are directly attributable to cilia disorders. Despite intensive research, causative therapies are still lacking. Cilia2020 brings clinicians and scientists together and also integrates patient participation.
For more details, please visit: https://www.cilia2020.de/
This symposium will focus on the molecular basis and evolution of sexual dimorphism across animals and other organisms, including the origins, evolution and biology of sex chromosomes. It will cover topics ranging from the evolution of sex determining systems, sex linkage and sex chromosomes, sex-biased gene expression (on autosomes and sex chromosomes) and X chromosome dosage compensation mechanisms, to the evolution of associated dimorphic phenotypes and the underlying selective pressures.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-09/
The EMBL Transcription and Chromatin meeting has a long-standing tradition in shaping the field of transcriptional regulation. The meeting brings together leading experts covering all aspects of transcription including cis-regulatory function, long range regulation, 3-dimensional looping, the basal transcriptional machinery, RNA polymerase regulation and function, nucleosome positioning, chromatin modifications, chromatin remodelling, and epigenetic inheritance of transcriptional silencing. The meeting contains many talks selected from the abstracts that are interspersed with invited speakers, discussing the latest breakthroughs in transcriptional regulation. The conference is designed to promote interactive discussions at both the talks and poster sessions. Given the excellent line up of speakers and the meeting’s outstanding reputation, this is a ‘must’ attend for anyone interested in cutting edge research in transcription.
For more details, please visit: https://www.embl.de/training/events/2020/TRM20-01/
Human Genetics 2020 Conference welcomes you to attend the “7th International Conference on Human Genetics and Genetic Diseases” we cordially invite all the participants who are interested in sharing their knowledge and research in the arena of Genetics.
Human Genetics 2020 Conferences offers the scientific community a platform to share their knowledge in the field of Human Genetics and Genetic Diseases. This conference offers a comprehensive agenda presented through two plenary sessions and panel discussions for the benefit of professionals in the field of Medical, Dental, Pharmacy, Nursing and others, who are engaged in common health problems.
For more details, please visit: https://www.vydya.com/events/human-genetics-2020-2/
The main aim of the European Society of Human Reproduction and Embryology is to promote interest in, and understanding of, reproductive biology and medicine.
ESHRE collaborates globally and advocates universal improvements in scientific research and harmonization in clinical practice. It also provides guidance that enhances safety and quality assurance in clinical and laboratory procedures.
ESHRE’s activities include teaching, training and professional accreditations, as well as developing and maintaining data registries. It also facilitates and disseminates research in human reproduction and embryology to the general public, scientists, clinicians and patient associations.
ESHRE collaborates with politicians and policy makers throughout Europe.
The course has three main objectives:
- To educate and inspire the next generation of scientists, by providing an up-to-date overview of both contemporary and classic topics, spanning state-of-the-art techniques in Drosophila genetics and genomics. Participants will obtain an essential knowledge base, providing the necessary foundation for their own research projects.
- To stimulate the exchange of ideas between established and early career scientists, enabling participants to better direct their research questions.
- To provide networking opportunities, hence fostering collaborations and career development.
For more details, please visit: https://www.embl.de/training/events/2020/DRG20-01/index.html
At the ESHG meeting, we thrive to bring you what is at the forefront of human genetics both scientifically and technologically without losing sight of educating the upcoming generation of human geneticists. It is with these goals in mind that our Scientific Program Committee (SPC) establishes the meeting schedule. It invites the best speakers for the concurrent symposia and selects the best abstracts for oral presentations during the concurrent sessions to create a program that represents the breadth of our specialty. These presentations are completed by a set of educational sessions given by invited speakers and which are aimed to update you on various topics in genetics. Our meeting would not be complete without our exhibitors who advertise their new products to help you in your clinic, your diagnostic laboratory and your experimental work.
For more details, please visit: https://2020.eshg.org/
The 15th International Symposium on Variants in the Genome: detection, genome sequencing and interpretation is also known by the short name of Variant Detection 2020 (prevously known as the Mutation Detection meeting series). The meeting has a long history since 1991. The first meetings focussed on methodology developed to find mutations/variants in DNA. In the years that have passed since, we find cheaper and cheaper methods being used to do the same but more sensitively, effectively and efficiently. In addition, due to the enormous decrease in sequencing cost, methodology concentrated on one main method; sequencing. Consequently, attention and interest has shifted from detecting to evaluating variants; do they effect the health of the individual?
For more details, please visit: http://isv.variome.org/home.html
ECRD is a biennial event that has allowed the rare disease community to gather since 2001 to monitor and benchmark relevant initiatives, drive the policy framework around rare disease diagnosis, treatment and care and empower the rare disease community to drive change where it is needed most. Outputs from these conferences have informed national and local policy initiatives and are referenced in decision-making around the provision of services for the community. The overarching theme for this conference is The rare disease patient journey in 2030. The European Joint Programme on Rare Diseases serves as official partner of the conference and VASCERN is a proud an Associate Partner of this event.
For more details, please visit: https://www.rare-diseases.eu/
Approach to multiple disabilities; Genetic counseling in high risk populations; Intellectual disability; Medical Genetics Guidelines; Transplantation Guidelines for Genetic Diseases; Kidney Diseases; Genetic Education; Genetic Exams; Genomics and Precision Medicine; Immunogenetics; Multidisciplinarity; Neurogenetics; Nutrition Inborn Errors of Metabolism; Oncogenetics; Legal Issues in Medical Genetics; Autistic Spectrum Disorder; Treatment of Metabolism, Inborn Errors
For more details, please visit: https://www.cbgm2020.com.br/home.asp
This inaugural conference aims to address these concerns by focusing on pathways and resources to integrate genomics into clinical practice and nursing education. Overall the conference will focus on three strategic areas:
Methods of achieving genomic competency, implementation, and integration into the practice setting, academic preparation, regulatory guidance and policy;
Mechanisms for international collaborative efforts on nursing genomic integration and evidence-based research;
International genomic nursing competencies, genomic integration assessment tool (ASIGN), and the G2NA implementation roadmap.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/nursing-genomics-healthcare-2020/
Find new directions when biological research communities converge at TAGC. At this unique conference, topic-driven and community-specific sessions alternate to foster collaboration and inspire fresh thinking. Conference Themes including: New Technology and Resources | Genomics and Systems Biology | Evolutionary and Population Genetics | Quantitative Genetics | Developmental Genetics | Intracellular Dynamics | Gene Regulation | Disease Models and Aging | Genome Integrity | Neurogenetics | Ethical, Legal, Social Issues | Training and Education.
For more details, please visit: https://genetics-gsa.org/tagc-2020/
The regulation of the transcriptome is key to cellular processes that underpin cell biology, development and tissue function. All classes of cellular RNA are subject to post-transcriptional modification, be it by direct chemical modification, editing or non-templated nucleotide additions. It is now emerging that the modification status of the transcriptome is dynamic and responsive to environmental/developmental cues. Together, this has elicited the realisation of an ‘epitranscriptome’ where post-transcriptional RNA modification coupled with recruitment of effector RNA binding proteins dynamically regulates genomic output. Importantly, mutations in setting or reading RNA modifications are causative of many human diseases or congenital disorders. This meeting aims to explore all aspects of this emerging topic, from methods development to molecular mechanism. Most importantly, the meeting will place an emphasis on the contribution of RNA modification to mammalian development, tissue homeostasis and disease.
For more details, please visit: https://www.embl.de/training/events/2020/ETC20-01/
3 outstanding programmes bringing together Europe’s key genomics experts in Next Generation Sequencing, Single Cell Analysis, Genome Editing.
80+ case studies, solution & technology presentations & 2 interactive workshops over the 2 days.
07 April 2019 – Day One: Genome Editing Technologies & Techniques; Drug Discovery & Development Applications in In Vivo Therapeutics
08 April 2019 – Day Two: Drug Discovery & Development – Target Identification and Validation; Non-Human Models in Diagnostics & Therapeutics
For more details, please visit: https://www.rsc.org/events/detail/42833/4th-annual-genome-editing-usa-congress
Human Genome Meeting (HGM) is a series of annual conferences organized by the Human Genome Organisation (HUGO). It started as a meeting dedicated for Human Genome Mapping. Over the years, with the completion of the Human Genome Project, HGM has evolved from a small targeted meeting into a scientific conference for all genetic and genomic researchers; an excellent platform for industry partners and bio-technology companies as well as pharmaceutical giants; and a fantastic reunion for fellow scientists and networking opportunity for established and young investigators.
For more details, please visit: http://hugo-hgm2020.org/
We will discuss the principles that govern the three-dimensional folding of the genome in chromosomes and inside the nucleus. Our understanding of how this organisation controls genome function and how it changes over time, both in the context of the cell cycle and in the course of normal development is incomplete. Currently, the study of the spatial organisation of the genome is being revolutionised by new genomics and microscopy techniques. The computational analysis and modelling of such data are delivering new insights into genome structure and function. This symposium will bring together latest advances in the fields of genomics, microscopy and modelling to foster their integration towards a comprehensive spatial and temporal understanding of the functional four-dimensional organisation of the eukaryotic genome.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-03/
The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital setting, we also examine the opportunities and challenges for clinical practice. This year’s meeting will focus on large-scale whole genome sequencing studies that impact on our understanding of rare diseases. There will also be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions exploring regulatory regions beyond the coding regions of the genome, and explore the new therapeutic approaches to rare diseases.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/genomics-rare-disease-2020/
This conference will bring together scientists and clinicians working on neurodegenerative and psychiatric diseases to compare approaches used and the emerging lessons from both categories of disease. This meeting will synthesise the advances and remaining challenges in the genomics of various brain disorders. We will discuss recent insights into genomic architecture and the emerging biology of disease. This year’s meeting will also highlight systems biology and modelling approaches, population studies and emerging tools and technologies. We will also discuss the use of genomics to drive therapeutics.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/genomics-of-brain-disorders-2020/
The cell represents one of the fundamental units of biology, yet only recently has it become possible to carry out comprehensive molecular profiling at single cell resolution. Coupled with appropriate functional experiments, this technological revolution heralds a new era of biology, which is widely expected to generate major advances in our understanding of normal tissue development and homeostasis, immunity and infection as well as tissue pathologies including cancer. This year’s meeting will discuss the biological insights gained from imaging and single cell genomics, particularly in immunology, neurobiology, development and disease. A further focus will be on methods, including computational approaches.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/single-cell-biology-2020/
We are at the dawn of a new era of biology where we will start to understand how organisms function together and react or adapt to changes at different molecular levels. This includes the multitude of stresses that organisms are exposed to, from malnutrition and adverse climate events to many other biological, chemical and physical insults. Progress in biological analyses at both a single scale and across scales, have allowed us to further understand organisms in the context of dynamic environments. These can be environments which are changed by disease, commensal cohabitation or competition, as well as abiotic factors. With the molecular understanding we already have at the cellular and organismal levels, and new tools and quantitative approaches, this symposium will address how genotype and the environment bring about phenotypes at the population level.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-01/index.html
The course will be delivered by leaders in genomics and participants will have the opportunity to learn from those who developed the tools and are working at the cutting edge of genomic medicine. The programme aims to understand the origin of mutations, the concepts of germline and somatic mutation and their fundamental implications in development and disease. We will review the resources used in filtering and interpretation of data from genome-wide assays; and focus on the pathways and pipelines from DNA sequencing to variant interpretation.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/clinical-genomics-2020/
OBM Genetics welcomes the following types of articles: original research, review, communication, opinion, case report, comment, conference report, technical note, book review, etc. There is no restriction on the length of the papers, color figures, supplementary file types. More details please see Instructions for Authors.