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.

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).

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 [...]

Open Access Original Research

Chromosomal Abnormalities in Infertile Greek Men: A Single Institution’s Experience

Received: 21 October 2022;  Published: 08 February 2023;  doi: 10.21926/obm.genet.2301178


Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eight infertile men (27 azoospermic, 168 with oligospermia -98 mild [...]

Open Access Technical Note

Validation of Fluorescence in Situ hybridization (FISH) Assay Using An Analyte-Specific Reagent in Detecting Aneuploidies of Chromosomes 13, 18, 21, X, and Y in Prenatal Diagnosis

Received: 01 October 2022;  Published: 06 February 2023;  doi: 10.21926/obm.genet.2301177


Fluorescence In-Situ hybridization (FISH) is a sensitive and highly efficient technique commonly used in routine diagnostics. Most of these tests that use analyte-specific reagents are not approved by US Food and Drug Administration (FDA) but are developed by individual test laboratories. There is an emerging demand for prenatal diagnosis of aneuploidie [...]

Open Access Interview

An Interview with Dr. Yuri Shavrukov

Received: 09 January 2023;  Published: 10 January 2023;  doi: 10.21926/obm.genet.2301176


An Interview with Dr. Yuri Shavrukov

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2022

Received: 05 January 2023;  Published: 05 January 2023;  doi: 10.21926/obm.genet.2301175


The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2022. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication [...]

Open Access Interview

An Interview with Dr. Masahiro Sato

Received: 13 December 2022;  Published: 14 December 2022;  doi: 10.21926/obm.genet.2204174


An Interview with Dr. Masahiro Sato

Open Access Review

The Actual Situation of Covid-19 Infection at High Altitudes in Perú

Received: 03 August 2022;  Published: 12 December 2022;  doi: 10.21926/obm.genet.2204173


This study aimed to reveal the evolution and characteristics of the COVID-19 pandemic in high-altitude areas of Perú. An observational, descriptive, retrospective and longitudinal study based on information from the Peruvian Ministry of Health, COVID-19 Situational Room, warning from the National Epidemiology Center, Prevention and Disease Control [...]

Open Access Original Research

Cytohistopathological Correlation of 884 Cervical Pap Smears as Bethesda System 2014: A Hospital-Based Study

Received: 14 September 2022;  Published: 22 November 2022;  doi: 10.21926/obm.genet.2204172


Cervical carcinoma is most common in Indian women of which Rural women are predominantly affected. The most common etiological factor is human papillomavirus (HPV ). The present study aims to assess the diagnostic accuracy, sensitivity, specificity, and different patterns of cervical Pap smears by comparing histological findings. The index study is [...]

Open Access Review

Abiotic Stress: Interplay Between ROS Production and Antioxidant Machinery, Signaling, and ROS Homeostasis

Received: 29 August 2022;  Published: 09 November 2022;  doi: 10.21926/obm.genet.2204171


Climate change poses a substantial threat to global crop yield. Moreover, crop production is likely to reduce in the near future because of increasing average temperatures, widespread extreme climate events, and the loss of agricultural land. Abiotic stresses are the major factors limiting the growth and development of various crops worldwide. They [...]

Open Access Review

Novel Insights into Epigenetic Control of Autophagy in Cancer

Received: 28 June 2022;  Published: 08 November 2022;  doi: 10.21926/obm.genet.2204170


The autophagy mechanism recycles the damaged and long-standing macromolecular substrates and thus maintains cellular homeostatic and proteostatic conditions. Autophagy can be an unavoidable target in cancer therapy because its deregulation leads to cancer formation and progression. Cancer can be controlled by regulating autophagy at different genetic [...]

Open Access Original Research

Comparison of Sputum and Oropharyngeal Microbiome Compositions in Patients with Non-Small Cell Lung Cancer

Received: 01 August 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204169


Recent findings indicate that the microbiota is involved in the development of lung cancer by inducing inflammatory responses and generating genome damage. This study aimed to compare sputum microbiomes from the mouth and oropharynx in non-small cell lung carcinoma (NSCLC) patients. A second goal was to search for bacterial taxonomic units that behave [...]

Open Access Case Report

Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

Received: 30 June 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204168


Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas monosom [...]

Open Access Research Article

“Not Private at All:” Comparative Perspectives on Privacy of Genomic Data, Family History Data, Health-Related Data, and Other Personal Data

Received: 09 August 2022;  Published: 31 October 2022;  doi: 10.21926/obm.genet.2204167


People choose how and if to generate and disclose not just personal genomic data, but also multiple other types of personal health and non-health related data. To contextualize choices about genetic testing and genetic data disclosure, we explored perspectives of genomic data privacy and disclosure compared to other types of data. We conducted a qualita [...]

Open Access Research Article

Cytoplasmic Microinjection of piggyBac Transposase mRNA and Transposon Vectors for Efficient In Vitro Production of Transgenic Porcine Parthenotes

Received: 07 July 2022;  Published: 29 September 2022;  doi: 10.21926/obm.genet.2203166


The efficient production of transgenic (Tg) piglets has remained a challenge in the field of domestic animal studies. Unlike mice, the pronuclei of pig zygotes cannot be easily studied because of the abundance of lipid droplets. Therefore, the zygotes must be briefly centrifuged before pronuclear injection (PNI) to move the lipid droplets to the periphe [...]

Open Access Review

Newborn Screening in Gaucher Disease: A Bright and Complicated Future

Received: 20 July 2022;  Published: 26 September 2022;  doi: 10.21926/obm.genet.2203165


Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurological impairments in the case [...]

Open Access Technical Note

Successive Detection of Telomerase by IHC and Assessment of Telomere Length by Q-FISH in Paucicellular Cumulus Samples from Cumulus-Oocyte Complexes Obtained in Assisted Reproduction Programs

Received: 13 May 2022;  Published: 23 September 2022;  doi: 10.21926/obm.genet.2203164


This paper suggests an approach for the use of a single paucicellular histological sample to investigate two characteristics indicative of the cell’s functional potential: 1) the content of telomerase reverse transcriptase (TERT) and 2) the telomere length. An algorithm has been suggested for the successive detection of the catalytic telomerase subuni [...]

Open Access Opinion

High-Altitude Pulmonary Edema in the Context of COVID-19

Received: 18 July 2022;  Published: 09 September 2022;  doi: 10.21926/obm.genet.2203163


High-altitude pulmonary edema (HAPE) and COVID-19 pneumonia are different diseases, but HAPE-susceptible individuals (whose susceptibility often has a genetic basis) can also suffer from severe COVID-19. We hypothesized that certain pathogenic mechanisms might overlap if such a coincidence occurs, since these patients could react to alveolar hypoxia [...]

Open Access Review

Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age and Obstetric History

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162


Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of [...]

Open Access Review

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Received: 04 May 2022;  Published: 02 August 2022;  doi: 10.21926/obm.genet.2203161


Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for different types of galactosemia are described. This revie [...]

Open Access Interview

An Interview with Dr. Mark Stoneking

Received: 07 July 2022;  Published: 13 July 2022;  doi: 10.21926/obm.genet.2203160

Open Access Original Research

First Cytogenomic Characterization of the Murine Testicular Tumor Cell Line I-10

Received: 25 March 2022;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202159


After being established in 1967, the commercially available murine Leydig cell tumor line I-10 has been used in almost 50 published studies. I-10 has not been characterized, either at the chromosomal/ cytogenetic level or the genetic level, similar to many other murine tumor cell lines. In this study, we performed molecular karyotyping and multicolor [...]

Open Access Research Article

Molecular Genetic Study on VNTR-polymorphism of Two Cytokine Genes Antagonist of the Receptor of Interleukin 1 (rs2234663) and Interleukin 4 (rs8179190) Associated with Dental Caries in Children

Received: 24 December 2021;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202158


In this study, we investigated VNTR polymorphisms in intron 2 of the IL1RN gene (rs2234663) and intron 3 of the IL4 gene (rs8179190) related to the development of caries in school children (N = 196) with mixed bite dentition from Krasnodarskii Krai. The genotypes A1/A1 and L/L (L-“long” alleles) (rs2234663) provided resistance to the most intensive [...]

Open Access Original Research

Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers

Received: 28 March 2022;  Published: 22 June 2022;  doi: 10.21926/obm.genet.2202157


Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 years, fluorescent in situ hybridization (FISH) has been [...]

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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