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.

Indexing: DOAJ-Directory of Open Access Journals.

Archiving: full-text archived in CLOCKSS.

Rapid publication: manuscripts are undertaken in 8.5 days from acceptance to publication (median values for papers published in this journal in the first half of 2019, 1-2 days of FREE language polishing time is also included in this period).

Open Access Review

Detection of Circulating Tumor DNA in Solid Tumors

Ugo Testa, Germana Castelli, Elvira Pelosi
Received: May 27, 2020; Published: August 06, 2020; doi:10.21926/obm.genet.2003114

Abstract: Cancer is characterized by sequential and progressive genetic and epigenetic alterations in key proto-oncogenes and tumor suppressor genes, which ultimately lead to tumor development. Advances in the technology of analysis of molecular mechanisms have increased the efficiency of clinical management [...]

Open Access Review

“Evolution” of Embryogenesis: Complexity of the Early Developmental Stages in the Animal Kingdom

Steve Liebich
Received: March 16, 2020; Published: July 02, 2020; doi:10.21926/obm.genet.2003113

Abstract: Multicellularity has gained the advantage over the unicellular world by expanding the number of increasingly more complex tissues that achieve advanced and specific functions. This same event gave rise to the most evolved group of organisms, namely mammals. Even though the complexity of multicellula [...]

Open Access Original Research

Genetic Variants of Targetable Cancer-related Genes in Vestibular Schwannomas

Alvin Ho-Kwan Cheung, Nancy Bo-Yin Tsui, William Chi-Shing Cho, Xiao-Meng Pei, Yin-Kwan Evelyn Wong, Hin-Fung Andy Tsang, Gilberto Ka-Kit Leung, Sze-Chuen Cesar Wong
Received: May 02, 2020; Published: June 28, 2020; doi:10.21926/obm.genet.2002112

Abstract: Background: Vestibular schwannoma is an intracranial tumor which can lead to devastating neurological deficit and is prone to recurrence after surgery. Patients with inherited neurofibromatosis type 2 (NF2) syndrome are particularly susceptible to bilateral and aggressive schwannomas. However, the g [...]

Open Access Review

Genetic Explanations for Fertility Disorders

Joep Geraedts
Received: May 02, 2020; Published: June 23, 2020; doi:10.21926/obm.genet.2002111

Abstract: This article reviews the genetic testing of infertility disorders. Genetic abnormalities can lead to disturbances of sexual development and hamper reproduction by influencing gamete production and maturation, fertilization, and embryonic development. Until now, the vast majority of detectable geneti [...]

Open Access Review

Splicing HAC1/XBP1 mRNAs in Cytoplasm: The Non-Conventional mRNA Splicing Reaction in the Unfolded Protein Response

Yi Song, Carlos Rivera, Jiayu Mai, Annie Sun, Weihan Li
Received: March 23, 2020; Published: May 22, 2020; doi:10.21926/obm.genet.2002110

Abstract: The majority of the secretory and transmembrane proteins are folded in the endoplasmic reticulum (ER). When unfolded proteins accumulate in the ER, a collective of signalling pathways, termed the unfolded protein response (UPR), are activated to restore the ER protein folding homeostasis. The most e [...]

Open Access Technical Note

HER2 FISH for Breast Cancer: Advances in Quantitative Image Analysis and Automation

Jun Gu, Zhenya Tang, Hui Chen, Steven Sfamenos, Katherine B Geiersbach
Received: March 02, 2020; Published: May 13, 2020; doi:10.21926/obm.genet.2002109

Abstract: Quantitative image analysis of the status of human epidermal growth factor receptor 2 (HER2) by both immunohistochemistry staining and fluorescent in situ hybridization (FISH) is important for the treatment of breast cancer. Guidelines of the American Society for Clinical Oncology and College of Ame [...]

Open Access Research Article

Professionals’ Views on Offering Pre-Natal Testing for Adult Onset Cancer Susceptibility. Reconciling Personal and Professional Ethical Conflicts, Coping Strategies and Need for Policy Transparency

Lorraine Cowley, Mari Jones
Received: December 30, 2019; Published: April 26, 2020; doi:10.21926/obm.genet.2002108

Abstract: This paper explores views of healthcare professionals (HCPs) in genetics and foetal medicine settings on offering pre-natal diagnosis (PND) for adult onset cancer susceptibility (AOCS) genes. Study participants came from different disciplinary backgrounds and all had considered implications of offer [...]

Open Access Original Research

MSIGNET: A Bayesian Approach for Disease-associated Gene Network Identification

Xi Chen, Jianhua Xuan
Received: October 19, 2019; Published: April 07, 2020; doi:10.21926/obm.genet.2002107

Abstract: The analysis of gene networks and signalling pathways plays a key role in understanding gene functions, i.e., their effects on the development of a particular disease. Yet, for many heterogeneous diseases, the number of known disease-associated genes is limited. Identifying disease-assoc [...]

Open Access Case Report

Knight in Splicing Armor: Alternative Splicing as a Neuroprotective Mechanism

Joun Park, Xianzun Tao, R. Grace Zhai
Received: January 13, 2020; Published: March 20, 2020; doi:10.21926/obm.genet.2001106

Abstract: By adjusting gene expression in response to environmental changes, cells can optimize fitness as needed. Alternative splicing is one of the most important post-transcriptional regulation steps, broadly involved in diverse physiological and pathological conditions. Here, we present 5 case [...]

Open Access Editorial

Epigenetics of Obesity and Diabetes: Emerging Roles and Mechanisms of Non-coding RNAs

Mohamed Zaiou
Received: March 17, 2020; Published: March 17, 2020; doi:10.21926/obm.genet.2001105

Open Access Editorial

Plant Genetics and Gene Study

Yuri Shavrukov
Received: March 04, 2020; Published: March 04, 2020; doi:10.21926/obm.genet.2001104

Open Access Communication

Effective Delivery of Cancer Vaccines with Oxidatively Photo-Inactivated Transgenic Leishmania for Tumor Immunotherapy in Mouse Models

Kwang Poo Chang, Dennis K. P. Ng, Chia-Kwung Fan, Ramesh B. Batchu, Bala K. Kolli
Received: December 29, 2019; Published: February 24, 2020; doi:10.21926/obm.genet.2001103

Abstract: The parasitic protozoa in the genus of Leishmania have exceptionally favorable attributes for exploitation as a vehicle for safe and effective delivery of transgenically incorporated vaccines against infectious and malignant diseases. A dual suicidal mechanism was installed in Leishmania via genetic [...]

Open Access Editorial

Another Productive Year

Joep Geraedts
Received: January 14, 2020; Published: January 14, 2020; doi:10.21926/obm.genet.2001102

Abstract: At the beginning of a new year it is always good to look both backwards and forwards and to highlight a few items that are relevant with respect to the long-term development of our journal. As everybody knows, the principle of open access publishing is that the authors pay fees (the article‐processi [...]

Open Access Review

The Role of Genetic Counseling in Gynecological Oncology

Ciro Comparetto, Florence Dupré, Franco Borruto
Received: July 15, 2019; Published: December 12, 2019; doi:10.21926/obm.genet.1904101

Abstract: Background: Clinical or medical genetics deals with the study and diagnosis of genetic diseases. It is oriented to the formulation of the clinical diagnosis of genetic diseases and genetic counseling, in order to evaluate the possible reproductive risk for the patient and his family. The geneticist [...]

Open Access Hypothesis

Combination of the Hansemann-Boveri, Warburg, and Knudson Theories of Cancer, Based on Failure of Missegregation Damage Mitigation

Kjeld C. Engvild
Received: July 17, 2019; Published: December 3, 2019; doi:10.21926/obm.genet.1904100

Abstract: The Hansemann-Boveri aneuploidy theory, the Warburg aerobic glycolysis theory, and the Knudson two-hit mutation theory can be seen as different aspects of a theory where the very common chromosome missegregation damage is mitigated by several quite different mechanisms. Cancer only occurs when all o [...]

Open Access Review

Nutrition, Cancer Genetics and Epigenetics

Kenneth Lundstrom
Received: October 1, 2019; Published: November 28, 2019; doi:10.21926/obm.genet.1904099

Abstract: A strong association has been established between nutrition and disease risk confirmed by epidemiological data and meta-analysis. In the context of cancer, unhealthy diets have been demonstrated to increase the risk of disease. On the other hand, major dietary interventions and lifestyle changes hav [...]

Open Access Original Research

Diversity in the Bacterial Genus Dickeya Grouping Plant Pathogens and Waterways Isolates

Jacques Pédron, Frédérique Van Gijsegem
Received: July 25, 2019; Published: November 26, 2019; doi:10.21926/obm.genet.1904098

Abstract: Background: The Dickeya genus comprises aggressive soft rot plant pathogens with wide geographic distribution and host ranges. Ten Dickeya species have been characterised. Seven of them (D. chrysanthemi, D. dadantii, D. dianthicola, D. fangzhongdai, D. solani, D. paradisiaca, D. zeae) group causati [...]

Open Access Review

Optimizing Phage Translation Initiation

Xuhua Xia
Received: June 9, 2019; Published: October 17, 2019; doi:10.21926/obm.genet.1904097

Abstract: Phage as an anti-bacterial agent must be efficient in killing bacteria, and consequently needs to replicate efficiently. Protein production is a limiting step in replication in almost all forms of life, including phages. Efficient protein production depends on the efficiency of translation initiatio [...]

Open Access Review

Insulin-Like Growth Factor 2 in Physiology, Cancer, and Cancer Treatment

Bas T Röttgering, Karoly Szuhai
Received: May 14, 2019; Published: October 14, 2019; doi:10.21926/obm.genet.1904096

Abstract: IGF2 is a strongly mitogenic peptide and imprinted gene primarily involved in foetal development. In the foetus, IGF2 is highly expressed and is involved with foetal growth and tissue differentiation. However, postnatally IGF2 expression decreases although its expression level is still higher in blo [...]

Open Access Short Report

Thalassemia Intermedia Caused by a Combination of a Globin Gene Triplication with Heterozygosity for β0 Thalassemia: A Case Report

Konstantinos Manganas, Sophia Delicou, Aikaterini Xydaki, Zoi Pallantza
Received: May 19, 2019; Published: September 17, 2019; doi:10.21926/obm.genet.1903095

Abstract: Thalassemia syndromes are a group of hemoglobinopathies characterized by gene defects that disrupt hemoglobin synthesis. Thalassemia intermediate is referred to a group of disorders with a less severe form of the disease when compared with thalassemia major. We present the case of a 60 year old w [...]

Open Access Editorial

Introduction to Genetic Screening

Johanne Traeger-Synodinos, François Rousseau
Received: September 6, 2019; Published: September 11, 2019; doi:10.21926/obm.genet.1903094

Abstract: We present here the content and articles of this special issue on genetic screening, putting them in perspective with the field and between themselves.

Open Access Review

Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications

Damien Bouvier, Yves Giguère
Received: July 1, 2019; Published: September 6, 2019; doi:10.21926/obm.genet.1903093

Abstract: Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and p [...]

Open Access Communication

Upregulation of COX-2 in MCF7 Breast Cancer Cells When Exposed to Shear Stress

Caymen M. Novak, Eric N. Horst, Shreya Raghavan, Geeta Mehta
Received: June 17, 2019; Published: September 6, 2019; doi:10.21926/obm.genet.1903092

Abstract: Background: Invasive breast cancer affects 1 in 8 women in the United States and causes one of the highest cancer mortality rates for women. Cyclooxygenase-2 (COX-2), a central enzyme in prostaglandin biosynthesis, is implicated in breast cancer initiation, progression, invasion, metastasis, and has [...]

Open Access Original Research

Deletion of Subtelomeric Regions in the Linear Chromosome of Variants Isolated from Streptomyces avermitilis NBRC 14893T

Hisayuki Komaki, Tomohiko Tamura
Received: April 19, 2019; Published: August 23, 2019; doi:10.21926/obm.genet.1903091

Abstract: Background: Streptomyces avermitilis is an actinomytcete producing avermectins and the complete genome sequence of S. avermitilis K139 was determined in 2003. In our previous study, we have revealed that S. avermitilis NBRC 14893T harbors two extra secondary metabolite-biosynthetic gene clusters (sm [...]

Open Access Research Article

BSA-Embedded Carbonate Apatite Enhances Chemotherapeutic Effect of Paclitaxel in vitro and in vivo

Tahereh Fatemian, Ezharul Hoque Chowdhury
Received: March 29, 2019; Published: August 15, 2019; doi:10.21926/obm.genet.1903090

Abstract: Among the strategies for enhanced pharmacokinetics and also pharmacodynamics of nano-formualtions is introduction of biocompatible materials to improve the capacity of the final product. With the aim to tackle drug loading and ultimate efficacy, incorporation of Bovine Serum Albumin (BSA) into carbo [...]

EMBL Conference: Systems Genetics: From Functional Genomics to Systems Biology

November 15-18, 2020, Heidelberg, Germany

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/

The 10th Santorini Conference, SYSTEMS MEDICINE AND PERSONALISED HEALTH & THERAPY – The Odyssey from Hope to Practice: “Patient first – keep Ithaca always in your mind

28 September-10 October, 2020, Santorini, Greece

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:











For more information about registration and abstracts’ submission please visit the website: http://santoriniconference.org.

EMBO-EMBL Symposium: Biological Oscillators: Design, Mechanism, Function

November 9-11, 2020, Heidelberg, Germany

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

EMBO Workshop: Neuroepigenetics: From Cells to Behaviour and Disease

October 28-31, 2020, Heidelberg, Germany

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/

Annual Meeting - American Society of Human Genetics ASHG 2020

October 27-31, 2020, San Diego, CA (USA)

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

EMBO-EMBL Symposium: The Complex Life of RNA

October 7-10, 2020, Heidelberg, Germany

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/

Cilia2020 - European Cilia Conference

October 06-09, 2020, Cologne, Germany

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/

EMBO|EMBL Symposium: The Molecular Basis and Evolution of Sexual Dimorphism

September 20-22, 2020, Heidelberg, Germany

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/

EMBL Conference: Transcription and Chromatin

August 29 – September 1, 2020, Heidelberg, Germany

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/

7th World Congress on Human Genetics and Genetic Diseases

August 10-11, 2020, Dubai, UAE

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/

36th Annual Meeting of the European Society for Human Reproduction and Embryology (ESHRE)

July 5-8, 2020, Copenhagen, Denmark

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.

For more details, please visit: https://www.emedevents.com/c/medical-conferences-2020/european-society-of-human-reproduction-and-embryology-eshre-36th-annual-meeting

EMBO-EMBL Course: Drosophila Genetics and Genomics

June 28 - July 3, 2020, Heidelberg, Germany

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

European Human Genetics Conference

June 6-9, 2020, Berlin, Germany

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/

15th International Symposium on Variants in the Genome: detection, genome sequencing and interpretation

May 25-27, 2020, Piran, Slovenia

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

10th European Conference on Rare Diseases & Orphan Products

May 15 - 16, 2020, Stockholm, Sweden

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/

XXXII Brazilian Meeting of Medical Genetics - CBGM 2020

May 14-17, 2020, Curitiba, PR (Brazil)

Preliminary Schedule:

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

ACSC course Nursing, Genomics and Healthcare

April 27-29, 2020, Hinxton, UK

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/

The Allied Genetics Conference 2020

April 22-26, 2020, DC Metro region, USA

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/

EMBO Workshop: The Epitranscriptome

April 21, 2020, Heidelberg, Germany

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/

4th Annual Genome Editing USA Congress

April 07-08, 2020, Boston, Massachusetts, USA

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 2020

April 5-8, 2020, Perth, Australia

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/

EMBO-EMBL Symposium: The Four-Dimensional Genome

March 29, 2020, Heidelberg, Germany

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/

Genomics of Rare Diseases

March 25-27, 2020, Wellcome Genome Campus, Hinxton, UK

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/

Genomics of Brain Disorders

March 18-20, 2020, Wellcome Genome Campus, Hinxton, UK

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/

ACSC course Single Cell Biology

March 11-13, 2020, Hinxton, UK

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/

EMBO-EMBL Symposium: The Organism and its Environment

March 01, 2020, Heidelberg, Germany

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

ACSC course Clinical Genomics: Fundamentals of Variant Interpretation in Clinical Practice

January 29-31, 2020, Hinxton, UK

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.

Register and Submit now.

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