OBM Genetics

(ISSN 2577-5790)

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.

Publication Speed (median values for papers published in 2022): Submission to First Decision: 4 weeks; Submission to Acceptance: 12 weeks; Acceptance to Publication: 13 days (1-2 days of FREE language polishing included)

Open Access Research Article

The Complete Chloroplast Genome Sequence of Actinidia arguta var. purpurea

Received: 16 October 2023;  Published: 24 November 2023;  doi: 10.21926/obm.genet.2304203


In this study, we report the complete chloroplast genome of Actinidia arguta var. purpurea. The chloroplast genome is 157,369 bp long as the circular (GC ratio is 37.22%). It has four subregions: a large single-copy (LSC) region of 88,609 bp, a small single-copy (SSC) region of 20,470 bp, and two inverted repeat regions (IRs) of 24,145 bp in [...]

Open Access Case Report

Progressive Pseudo-Rheumatoid Dysplasia a Rare Genetic Musculoskeletal Condition Causing Crippling Disability in a Young Boy- a Case Report

Received: 05 July 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304202


Progressive pseudo-rheumatoid dysplasia (PPRD) is an uncommon genetic condition inherited in an autosomal recessive mode caused by a mutation in the WNT1-inducible signaling pathway protein 3 (WISP3) located on chromosome 6q21. In this condition, the articular cartilage gradually deteriorates, causing severe discomfort, stiffness, and joint deformities [...]

Open Access Concept Paper

Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices

Received: 21 March 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304201


The personal experience of 36 years in charge of the Newborn Screening Laboratory in Galicia and the consequences of the recent advancement of sampling from 3 days to 24 hours of the newborn's life are reviewed. The implication in the results of the assay of reducers in urine with the Mandelin reagent and its alternatives is commented. The implication [...]

Open Access Original Research

Somaclonal Variation in Callus Cultures of Rose Periwinkle, Catharanthus Roseus L. Under Induced Salt and Osmotic Stresses

Received: 29 July 2023;  Published: 26 October 2023;  doi: 10.21926/obm.genet.2304200


The experiment was carried out at the laboratories of the National Commission for Biotechnology in Syria during the period 2020-2022 to detect the somaclonal genetic variation occurring in callus cultures at different ages and to compare them with the In vitro growing plants and introduced species of Rose Periwinkle that grew up in the Syrian environmen [...]

Open Access Original Research

Examining the Relationship between Attitudes Towards Genomic Technology and Genetic Entrepreneurial Intention among Egyptian Healthcare Professionals

Received: 24 September 2023;  Published: 24 October 2023;  doi: 10.21926/obm.genet.2304199


In the contemporary landscape, nurturing genomic entrepreneurial attitudes and intentions poses a substantial challenge for healthcare organizations. The present paper examines the factors affecting attitudes towards genomic technology and entrepreneurial intentions among Egyptian healthcare professionals. The study applied a quantitative approach and [...]

Open Access Review

Mutation Breeding in Horticultural Plant Species

Received: 27 July 2023;  Published: 19 October 2023;  doi: 10.21926/obm.genet.2304198


In the face of rapid population growth worldwide, humanity's need for plant and animal products is increasing. In this regard, the organizations in charge of production make production and consumption forecasts for the future and try to accelerate the work aimed at increasing production. There are various ways of increasing production. The first of [...]

Open Access Review

Newborn Screening for Inborn Errors of Metabolism

Received: 14 June 2023;  Published: 18 October 2023;  doi: 10.21926/obm.genet.2304197


Newborn screening can now detect more than 50 disorders, providing early and often life-saving treatment. Inborn errors of metabolism account for the majority of these disorders. This review will consider the more common metabolic disorders identified on newborn screening, including history, technique and management of these disorders.

Open Access Review

Role of Metabolic Nutrition in Newborn Screening and Inherited Metabolic Disorders

Received: 29 June 2023;  Published: 10 October 2023;  doi: 10.21926/obm.genet.2304196


The expansion of newborn screening (NBS) encompasses a wide range of inherited metabolic disorders, including disorders of carbohydrate, lipid, and protein metabolism. Effective treatment of these disorders requires comprehensive nutrition and medical management. This review highlights the intricacies of medical nutrition therapy for several common [...]

Open Access Review

Whole Genome Sequencing in Era of Newborn Screening

Received: 20 April 2023;  Published: 05 October 2023;  doi: 10.21926/obm.genet.2304195


After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortalit [...]

Open Access Review

Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers

Received: 14 June 2023;  Published: 25 September 2023;  doi: 10.21926/obm.genet.2303194


Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been [...]

Open Access Research Article

Arginine and Histidine-modified Layered Double Hydroxides Facilitate Transgene Expression in Cancer Cells in Vitro

Received: 14 June 2023;  Published: 21 September 2023;  doi: 10.21926/obm.genet.2303193


Layered double hydroxides (LDHs) have interesting properties and structures that enable them to carry nucleic acids, such as deoxyribonucleic acid (DNA). This study synthesized LDHs using the co-precipitation method and functionalized with the amino acids arginine (Arg) and histidine (His) to promote proton-sponge activity for enhanced transgene express [...]

Open Access Short Review

Normal and Aberrant Muscle Tissue Healing, Learning from Health and Disease

Received: 28 March 2023;  Published: 19 September 2023;  doi: 10.21926/obm.genet.2303192


Human skeletal muscle exhibits remarkable plasticity, being responsive to chemical, mechanical, metabolic, and inflammatory stress. When the homeostatic disturbance is below a threshold of significant damage, the muscle responds by modifying metabolic activity, cell size/shape, and structure, thereby normalizing cellular function. If the disturbance [...]

Open Access Review

Secondary Findings of Newborn Screening

Received: 16 April 2023;  Published: 31 August 2023;  doi: 10.21926/obm.genet.2303191


The aim of newborn screening (NBS) program is to detect and manage treatable conditions in the early stages prior to the occurrence of long-term and irreversible sequalae. Phenylketonuria was the first screened disorder, but panels rapidly expanded after the introduction of tandem mass spectrometry technology into the program. Significant differences [...]

Open Access Review

Newborn Screening for Severe Combined Immunodeficiency

Received: 02 June 2023;  Published: 04 August 2023;  doi: 10.21926/obm.genet.2303190


Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) has been successfully implemented in all 50 United States and Puerto Rico from 2008-2018. This life-saving screening tool has drastically improved overall survival of babies diagnosed with SCID from 74% to 96%. TREC is a stable, circular DNA molecule that is produced during the process [...]

Open Access Research Article

The Use of Transgenic Resistant Plums in Transgrafting Fails to Confer Plum Pox Virus Resistance in Prunus

Received: 16 January 2023;  Published: 25 July 2023;  doi: 10.21926/obm.genet.2303189


In order to sustain productivity, growers are implementing fruit trees to provide plum pox virus (PPV) resistant varieties. Unfortunately, classical breeding approaches have failed to develop resistant varieties. RNA interference (RNAi) silencing, as an alternate strategy, has been shown to be an efficient approach to combat PPV disease (sharka). PPV [...]

Open Access Review

Newborn Screening for Mucopolysaccharidosis Type I: Past, Present and Future

Received: 31 March 2023;  Published: 24 July 2023;  doi: 10.21926/obm.genet.2303188


Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase α-L-iduronidase. MPS I is characterized by a broad range of disease manifestations. This includes devastating neurocognitive and bone manifestations and a short life expectancy in severely affected MPS I patients. Neurocognitive manife [...]

Open Access Research Article

An Efficient Method for Micropropagation of Red-List Herbaceous Plant Species (Hedysarum cretaceum)

Received: 11 November 2022;  Published: 20 July 2023;  doi: 10.21926/obm.genet.2303187


Hedysarum cretaceum Fisch is a critically endangered herbaceous species with high ornamental and phytomeliorative properties; thus, it needs urgent conservation and protection methods to conserve. In the present study, an efficient method for microtonal propagation of H. cretaceum is developed. The seed sterilization was optimized as treatment with [...]

Open Access Research Article

An Evidence of Drug Repurposing for COVID-19 Pandemic Based on In silico Investigation from Phenolic Derivatives of Silybum Marianum Against SARS-Cov-2 Proteins

Received: 11 January 2023;  Published: 04 July 2023;  doi: 10.21926/obm.genet.2303186


The outbreak of coronavirus disease-2019 (COVID-19) had a striking impact on the worldwide healthcare system within a very short period. The availability of a large number of clinical data on SARS-CoV-2, conventional precautionary majors, and treatment strategies with the existing therapeutic antiviral drug molecules also fails to control progression [...]

Open Access Review

A Narrative Review of the TP53 and Its Product the p53 Protein

Received: 02 January 2023;  Published: 03 July 2023;  doi: 10.21926/obm.genet.2302185


The main purpose of this paper was to generate a narrative review related to the current knowledge of the TP53 gene and its product, the p53 protein. It was also attempted to elucidate the different p53 reactivation strategies of great interest, as various small molecules are being studied to reactivate mutant p53. PubMed and ScienceDirect were searched [...]

Open Access Research Article

Relationship between Hearing Loss Risk Factors and Hearing Screening Results in Newborns: A Retrospective Cross-Sectional Study

Received: 02 January 2023;  Published: 29 June 2023;  doi: 10.21926/obm.genet.2302184


Congenital hearing loss can have a long-term impact on children’s speech and communication abilities. Early detection and intervention of hearing loss are important in newborns. It is well known that there are several risk factors for hearing loss; however, the relationship between these risk factors and hearing screening tests remains uncertain in [...]

Open Access Review

Mycobacterium Tubercular Mediated Inflammation and Lung Carcinogenesis: Connecting Links

Received: 03 September 2022;  Published: 21 June 2023;  doi: 10.21926/obm.genet.2302183


Lung cancer is a leading cause of death among all the cancer worldwide and it has the highest occurrence and mortality rates. Mycobacterium tuberculosis (MTB) induced tuberculosis has been known as one of the risk factors for lung carcinogenesis. The exact mechanism of MTB is understood to date. Several research and epidemiological studies about the [...]

Open Access Review

Spinal Muscular Atrophy: An Overview

Received: 10 April 2023;  Published: 14 June 2023;  doi: 10.21926/obm.genet.2302182


Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis and treatment. There are 4 types of spinal muscular [...]

Open Access Research Article

Molecular and in Silico Analysis of MEFV Variants in Familial Mediterranean Fever Patients in Southwest Iran

Received: 11 October 2022;  Published: 12 May 2023;  doi: 10.21926/obm.genet.2302181


Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in MEFV. These mutations can affect the dysregulation of inflammatory processes in the human body and lead to fever and pain in the chest and abdomen. Many known missense mutations in MEFV are linked to FMF disease. Mutations in MEFV in most [...]

Open Access Research Article

Relationship between the Severity of Chest CT Scan Lesions, Arterial Oxygenation and Inflammatory Markers in High – Altitude Patients with Covid-19

Received: 01 December 2022;  Published: 19 April 2023;  doi: 10.21926/obm.genet.2302180


This study aims to determine the relationship between the severity of lung tomographic compromise with arterial oxygenation and inflammatory markers in patients with COVID-19, and to evaluate the relationship between the CTSS tomographic severity score and the mortality risk in a high-altitude population. A retrospective, longitudinal study reviewed [...]

Open Access Original Research

Congenital Phenotypes and DMPK CTG Repeat Number in Mothers/Children with Myotonic Dystrophy Type 1

Received: 29 June 2022;  Published: 28 March 2023;  doi: 10.21926/obm.genet.2301179


Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease often resulting in more severe symptoms in affected children. The number of CTG repeats is reportedly related to congenital myotonic dystrophy 1 (CDM) severity. In this study, we aimed to clarify whether the number of CTG repeats can predict the severity of symptoms in children [...]

8th Chronic Hypoxia Symposium

October 10-15, 2022 La Paz, Bolivia

Chronic Hypoxia is becoming a subject of great interest in the scientific community worldwide. The city of La Paz and surrounding areas, visited in this program and where conferences continue, is truly extraordinary. The 2 million people living there are practically unaware that they are at high altitude. Hypoxia does not exist for them. They carry out all normal activities, just as at sea level. The main focus of these conferences is the adaptation to chronic hypoxia with great implication for treating diseases both at high altitude and sea level and even space travel...


Chronic hypoxia and high altitude physiology

Evolution and adaptation to chronic hypoxia and high altitude

Adaptation to high altitude and tolerance to hypoxia

Chronic hypoxia-related genetics, genomics, proteomics, and metabolomics

Metabolic responses to chronic hypoxia and high altitude

Chronic Mountain Sickness or rather Polyerythrocythemia

High-altitude pre-conditioning

Sports and physical activity at high altitude

Respiratory Disease and Pulmonary Hypertension at high altitude

Respiratory control and apena

COVID-19 and Silent Hypoxemia

Cancer: chronic hypoxia and high altitude

Mitochondria and high altitude

Other high-altitude related diseases


For more details, please visit: http://zuniv.net/symposium8

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.

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