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
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).
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
by Anna Pendina , Mikhail Krapivin , Irina Mekina , Irina Aleksandrova , Yanina Sagurova , Evgeniia Komarova , Mariia Ishchuk , Andrei Tikhonov , Olesya Bespalova , Alexander Gzgzyan , Igor Kogan and Olga Efimova
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 [...]
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 [...]
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 [...]
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 [...]
Received: 07 July 2022; Published: 13 July 2022; doi: 10.21926/obm.genet.2203160
InterviewAn Interview with Dr. Mark StonekingOBM Genetics Editorial OfficeLIDSEN Publishing Inc., 2000 Auburn Drive, One Chagrin Highlands, Suite 200, Beachwood, OH, USA; E-Mail: firstname.lastname@example.orgOBM Genetics2022, volume 6, issue 3doi:10.21926/obm.genet.2203160Received: July 07, 2022Accepted: July 08, 2022Published: July 12, 2022
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 [...]
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 [...]
Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers
by Irina Puppo , Ziravard Tonyan , Alisa Panina , Ksenia Shunkina , Alsu Saifitdinova , Yulia Loginova , Anna Kinunen , Julia Pastuhova , Olga Leonteva , Olga Chiryaeva , Olga Маlysheva , Elena Fedorova , Tatyana Vavilova and Natalia Bichevaya
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 [...]
Received: 23 April 2022; Published: 15 June 2022; doi: 10.21926/obm.genet.2202156
The term chimera refers to an organism with cell lines from two or more distinct zygotes. Human chimerism may occur naturally or artificially. Although rare, advancements in genetics and genomics have resulted in the identification of additional natural human chimeras. Three forms of naturally occurring chimerism have been documented in humans: blood [...]
Anti-cancer Drug Susceptibility of Breast Cancer Cells Incubated on Electrospun Polymeric Fiber Substrates
Received: 01 March 2022; Published: 14 June 2022; doi: 10.21926/obm.genet.2202155
In this study, we examined the effect of a combination of surface topographies (fiber alignments) and different stiffness of poly(L-lactic acid) (PLLA) substrates on the direct relationship between anti-cancer drug (CDDP) sensitivity for MDA-MB-231 cells and mesenchymal properties under both normal and hypoxic conditions. In addition, we studied the [...]
Received: 22 March 2022; Published: 23 May 2022; doi: 10.21926/obm.genet.2202154
India is home to several medicinal herbs including turmeric. Turmeric is one of the major produces of India, primarily due to its unique and valuable medicinal and therapeutic properties. However, the growth and yield of turmeric are greatly affected by salt stress in certain parts of the country, especially those near water bodies where significant [...]
Received: 25 August 2021; Published: 26 April 2022; doi: 10.21926/obm.genet.2202153
In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. We have gained crucial insights into molecular factors and pathways of the cells generating either the supporting gonadal cells or germ cells of both sexes. In this [...]
The Identification 5S nrDNA Unit Classes in Genera of Plants and Selected Non-Vertebrate Animals and Their Potential for the Study of Species Relationships
Received: 07 January 2022; Published: 24 April 2022; doi: 10.21926/obm.genet.2202152
We have investigated the utility of the 5S nrDNA, a conserved, multicopy gene family organized into tandem repeats as a tool for genetic analyses in a wide variety of genera. Previous work in the Triticeae (Poaceae) demonstrated that the prior identification of unit classes based upon the 5S nrDNA NTS, greatly facilitates analysis. We investigated the [...]
by Masahiro Sato , Issei Saitoh , Yuki kiyokawa , Eri Akasaka , Shingo Nakamura , Satoshi Watanabe and Emi Inada
Received: 21 January 2022; Published: 11 April 2022; doi: 10.21926/obm.genet.2202151
Adipose tissue is distributed throughout the body as fat depots. The amount of adipose tissue increases with age. In mice, epididymal fat depots in males and gonadal fat depots in females are associated with the reproductive system. Regarding fat depots in females, the adipose tissue under the skin can be easily exposed via surgery when the ovary, ovidu [...]
Received: 25 July 2021; Published: 21 March 2022; doi: 10.21926/obm.genet.2201150
Maize is consumed as a food and used as an industrial product in the form of starch, pharmaceuticals, alcoholic beverages, oil, cosmetics, and textiles. In ancient times, landraces were more popular due to the presence of high genetic variability, resistance to biotic and abiotic factors, and the heterogeneous nature of maize; however, it has been repla [...]
The Regulation of Non-Invasive Prenatal Testing (NIPT) in France: Continuity and Changes in the Development of Prenatal Testing
Received: 02 September 2021; Published: 25 February 2022; doi: 10.21926/obm.genet.2201149
This article examines the regulation of the screening of fetal abnormalities in France before and after the implementation of the new technique of non-invasive prenatal testing (NIPT) in 2013. In addition, this article evaluates the effectiveness of the regulatory framework in addressing the ethical and social issues raised by this technique from a [...]
Received: 17 February 2022; Published: 22 February 2022; doi: 10.21926/obm.genet.2201148
InterviewAn Interview with Dr. Joep GeraedtsOBM Genetics Editorial OfficeLIDSEN Publishing Inc., 2000 Auburn Drive, One Chagrin Highlands, Suite 200, Beachwood, OH, USA; E-Mail: email@example.comOBM Genetics2022, volume 6, issue 1doi:10.21926/obm.genet.2201148Received: February 17, 2022Accepted: February 17, 2022Published: February 22, 2022
Received: 07 December 2021; Published: 13 February 2022; doi: 10.21926/obm.genet.2201147
The occurrence of various mutation patterns, such as changes in the DNA sequence and the loss of some sequences, is called a “mutational signature,” and they represent the molecular fingerprints that exist for the type of mutation occurring in a specific gene. Our study elucidates the correlations of mutational signatures in frequently mutated cance [...]
Received: 22 August 2021; Published: 21 January 2022; doi: 10.21926/obm.genet.2201146
Investigating the historical origins of a well-accepted health program across a region, such as newborn screening in Latin America, has the potential to reveal the role of historically-specific drivers in shaping national health policy. We reviewed published reports on NBS in Latin America and interviewed newborn screening experts with experience in [...]
Received: 19 October 2021; Published: 11 January 2022; doi: 10.21926/obm.genet.2201145
The evolution of hominins, members of the zoological tribe Hominini, has been a much-studied topic, and the construction of phylogenetic trees has been the key method in molecular evolutionary studies. How scientists determine the phylogenetic trees are governed by the assumptions they place on the construction of similarities and differences in morphol [...]
Received: 05 January 2022; Published: 06 January 2022; doi: 10.21926/obm.genet.2201144
The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2021. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication [...]
Received: 17 June 2021; Published: 17 November 2021; doi: 10.21926/obm.genet.2104143
Advances in clinical psychiatry have been less than hoped for relative to the achievements in neuroscience. However, developments in neuromodulation and psychedelic therapy are promising. The efficacy of such treatments and canonical pharmacotherapies benefit from genetics and personalized medicine. Moreover, recent studies on the perturbation of transc [...]
Would I have Wanted to Know? A Qualitative Exploration of Women’s Attitudes, Beliefs and Concerns about Non-Invasive Prenatal Testing for de novo Genetic Conditions after having a Child with a de novo Genetic Disorder
Received: 07 September 2021; Published: 03 November 2021; doi: 10.21926/obm.genet.2104142
Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomen [...]
Unexpected Associations between the Number of FRAXE Repeats in Boys and Evidence of Diabetes in Their Mothers and Maternal Grandmothers
by Jean GOLDING , Rosie Clark , Steven Gregory , Genette Ellis , Matthew Suderman , Yasmin Iles-Caven and Marcus Pembrey
Received: 17 May 2021; Published: 29 October 2021; doi: 10.21926/obm.genet.2104141
The FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller numbers of repeats. Here we answer the research question as to whether [...]
Received: 15 July 2021; Published: 09 October 2021; doi: 10.21926/obm.genet.2104140
In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level [...]
We sincerely welcome Prof. Bruce O'Hara, from the University of Kentucky, USA, to join the Editorial Board of OBM Genetics. He obtained his PhD in Human and Mammalian Genetics from The Johns Hopkins School of Medicine, and later spent twelve years at the Stanford University Center for Sleep and Circadian Neurobiology where he established a research program directed towards an understanding of sleep using higher throughput behavioral and genomic methodologies. He currently has over 35 years of experience in mammalian genetics and especially mouse models of human disease, and has over 95 publications in areas ranging from the effects of drugs to large-scale genetic screens and models of neurodegenerative disorders. We appreciate Dr. O'Hara for his participation and support.
We sincerely welcome Prof. Yuri Shavrukov, from Flinders University, Australia, to join the Editorial Board of OBM Genetics. Originally, Prof. Shavrukov worked at the Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk (Russia), where he received his PhD degree (1991). In 2001, he was selected and employed by CSIRO (Commonwealth Scientific and Industrial Research Organisation), Adelaide, Australia. After CSIRO, he received a position at the University of Adelaide, Plant Genomics Centre (2005-2016), and since that he moved to Flinders University, Adelaide. Currently, Prof. Yuri Shavrukov is working at Flinders University with some collaborative international research projects. His research interests include plant genetics and genomics, gene structure and expression analysis in plants, development and application of molecular markers in plant biology. We appreciate Prof. Shavrukov for his participation and support.
We sincerely welcome Dr. Mohan Shri Jain from University of Helsinki, Finland, to join the Editorial Board of OBM Genetics. He received his M. Phil, 1973 and Ph.D., 1978, Jawaharlal Nehru University, New Delhi, India. He was a postdoctoral fellow in Israel, USA, and visiting Professor in Japan, Malaysia, Germany, and Italy. He was a Technical Officer at, International Atomic Energy Agency (IAEA), Vienna, Austria, from 1999-to 2005. He is on the Editorial Board and a reviewer in several well-reputed journals. His publications are over 170 in peer-reviewed journals, book chapters, and conference proceedings, and edited 68 books; invited speakers, and acted as a chairperson in several international conferences worldwide. In commemoration of the awarding IAEA of the Nobel Peace Prize in 2005, as a team member, he received this certificate; consultant to IAEA, the European Union, The Government of Grenada, and the Egyptian Government. His current research interests are on in vitro techniques, mutagenesis, transgenics, genetic diversity and conservation, climate change, and food security. We appreciate Dr. Jain for his participation and support.
We sincerely welcome Dr. Paola Ungaro, from National Research Council, Italy, to join the Editorial Board of OBM Genetics. Dr. Ungaro is a Researcher at the National Research Council (CNR) in Institute for Experimental Endocrinology and Oncology “Gaetano Salvatore” of Naples, Italy. Dr Ungaro’s research interest includes epigenetic and transcriptional regulation of obesity and diabetes related genes and epigenetic regulation by natural compounds. The research activity includes three main research lines: 1. Evaluation of the effects of High-Fat Diet (HFD) on the expression of genes codifying for enzymes known to induce histone post-translational modifications (PTMs). 2. Study of the effects of Polyphenols on the epigenetic regulation of obesity-related genes and on the expression of key enzyme involved in chromatin remodelling. 3. Study of the effects of Polyphenols on the expression of genes involved in the browning of white adipose tissue. We appreciate Dr. Ungaro for her participation and support.
We sincerely welcome Prof. Dr. Yan Sanders, from University of Alabama at Birmingham, United States, to join the Editorial Board of OBM Genetics. Dr. Sanders is currently Associate Professor of Medicine. Her main research interests are epigenetic mechanisms in tissue injury, repair and aging. Her ongoing projects include exploring epigenetic alterations in pulmonary fibrosis, examining the effects of histone modifier on fibrotic lung fibroblasts, determining the epigenetic mechanisms of cellular senescence, aging, and age-related chronic diseases, specifically histone modifications and DNA methylation. We appreciate Prof. Sanders for her participation and support.
We sincerely welcome Professor Shin Murakami from Touro University California, USA, to join the Editorial Board of OBM Genetics. Professor Murakami received his Ph.D. from Kyoto University, Japan. He then worked at the University of Colorado-Boulder, University of Michigan-Ann Arbor, University of Louisville, among others. Current research interest is to understand the transition of aging processes from normal aging to disease (including Alzheimer’s disease, AD), using semi-automated imaging systems (Machino et al., 2014) and big data analysis of dementia genes in humans and C. elegans (Vahdati et al., 2017). He has formulated the multiplex stress resistance theory of aging, which has now been extended to the middle-life crisis theory of aging. Importantly, the middle-life crisis theory predicted the outcome of one or more clinical trials in the Alzheimer's disease. Recently he accepted new national leadership roles, including Public Policy Representative of BS Section Executive Committee (Gerontology Society of America); and Committee and Task Force/New Comprehensive Foundational Sciences Examination (NBOME). We appreciate Professor Murakami for his participation and support.
We sincerely welcome Professor Penna Suprasanna, former-Head of Nuclear Agriculture & Biotechnology Division, BARC, Mumbai & Homi Bhabha National Institute, India, to join the Editorial Board of OBM Genetics. Prof. Suprasanna obtained his MSc (Genetics) and Doctorate in Genetics from Osmania University, Hyderabad (India) and did his post-doc research in the Laboratory of Tropical Crop Improvement, Cathloic University of Leuven, Leuven, Belgium. His research interests include plant stress biology, biotechnology, plant mutagenesis and plant genomics. He has made concerted efforts to apply radiation mutagenesis techniques in plants in collaboration with International Atomic Energy Agency (IAEA), Vienna. He is the recipient of the “Award of Scientific and Technical Excellence” by the Department of Atomic Energy, Government of India, and is the Fellow of International Society of Environmental Botany. Dr. Suprasanna has a patent; published more than 300 research papers/articles in national and international journals, has edited special issues for journals & books. We appreciate Professor Suprasanna for his participation and support.
We sincerely welcome Professor John Marshall from Institute of Ophthalmology (UCL), United Kingdom to join the Editorial Board of OBM Genetics. Professor Marshall has extensive experience in ophthalmology, inherited retinal disease, diabetes, glaucoma, neurodegenerative diseases, etc. We are very grateful to Prof. Marshall for his participation and support.
We sincerely welcome Jaroslav Alois Hubáček, PhD, DSc., from Institute for Clinical and Experimental Medicine, Czech Republic, to join the Editorial Board of OBM Genetics. Dr. Hubáček has extensive experience in population population genetics, gene, diabetes, cardiovascular genetics, genetic predisposition of noncommunicable diseases, etc. We are very grateful to Prof. Hubáček for his participation and support.
We sincerely welcome Professor Jose J. G. Marin from University of Salamanca, Spain, to join the Editorial Board of OBM Genetics. Professor Marin has extensive experience in physiology, pharmacology, liver cancer, chemotherapy, genetics, molecular, cell, etc. We are grateful to Professor Marin for his participation and support.
We sincerely welcome Dr. Tapan K Bera from National Cancer Institute, USA, to join the Editorial Board of OBM Genetics. Dr. Bera has extensive experience in antibody engineering; immunotherapy; recombinant immunotoxin; multiple myeloma; BCMA; mesothelin, etc. We are grateful to Dr. Bera for his participation and support.
We sincerely welcome Professor Veena N Rao from Morehouse School of Medicine, USA, to join the Editorial Board of OBM Genetics. Professor Rao has extensive experience in triple negative breast cancers, ovarian cancers, tumor suppressor genes, biomarkers, cancer biology, epigenetics, protein-protein interactions, gene therapy, molecular biology, BRCA1, post translational modifications, precision medicine, etc. We are grateful to Professor Rao for her participation and support.
We sincerely welcome Professor James CS Chim from University of Hong Kong, Hong Kong, to join the Editorial Board of OBM Genetics. Professor Chim has extensive experience in DNA methylation of tumour suppressor genes, non-coding RNAs (micro-RNAs & long noncoding RNAs) in blood cancers including multiple myeloma, lymphoma and chronic lymphocytic leukemia, etc. We are grateful to Professor Chim for his participation and support.
We sincerely welcome Professor Lunawati L Bennett from Union University, USA, to join the Editorial Board of OBM Genetics. Professor Bennett has extensive experience in pharmacotherapy, pharmacogenomics, genetic disease, cancer, apoptosis, endocrine, antioxidants, natural product, nutrition, etc. We are grateful to Professor Bennett for her participation and support.
We sincerely welcome Professor Andrew Collins from University of Southampton, UK, to join the Editorial Board of OBM Genetics. Professor Collins has extensive experience in genetic epidemiology, next generation sequencing, bioinformatics, human genetics and cancer, etc. We are grateful to Professor Collins for his participation and support.
We sincerely welcome Professor Michael R. Ladomery from University of the West of England, UK, to join the Editorial Board of OBM Genetics. Professor Ladomery has extensive experience in RNA biology, alternative splicing, noncoding RNA, RNA-based cancer therapies, etc. We are grateful to Professor Ladomery for his participation and support.
We sincerely welcome Professor Katalin Csiszar from the University of Hawaii, USA, to join the Editorial Board of OBM Genetics. Professor Csiszar has extensive experience in molecular and medical genetics focused on heritable disorders associated with the extracellular matrix. We are grateful to Professor Csiszar for her participation and support.
We sincerely welcome Professor Sergei G. Tevosian from University of Florida, USA, to join the Editorial Board of OBM Genetics. Professor Tevosian has extensive experience in reproductive genetics, developmental genetics, adrenal development; developmental biology, etc. We are grateful to Professor Tevosian for his participation and support.
We sincerely welcome Professor Juraj Gregan from Comenius University, Slovakia, to join the Editorial Board of OBM Genetics. Professor Gregan has extensive experience in chromosome biology, mitosis, meiosis, etc. We are grateful to Professor Gregan for his participation and support.
We sincerely welcome Dr. Xuehuo Zeng from Case Western Reserve University, USA, to join the Editorial Board of OBM Genetics. Dr. Zeng has extensive experience in DNA damage response, molecular genetics, autophagy, cancer, etc. We are grateful to Dr. Zeng for his participation and support.
We sincerely welcome Assistant Professor Kakoli Das from Duke-NUS Graduate Medical School, Singapore, to join the Editorial Board of OBM Genetics. Dr. Das has extensive experience in molecular genetics, genetic heterogeneity, mutant, genotype, genetic diseases, etc. We are grateful to Dr. Das for her participation and support.
We sincerely welcome Professor Thomas Liehr from University Clinic Jena, Institute of Human Genetics, Germany to join the Editorial Board of OBM Genetics. Professor Liehr has extensive experience in clinical genetics, (molecular) cytogenetics, interphase architecture, ZOO-FISH, marker and derivative chromosomes, etc. We are grateful to Professor Liehr for his participation and support.
We sincerely welcome Professor Khue Vu Nguyen from University of California, United States, to join the Editorial Board of OBM Genetics. Professor Nguyen has extensive experience in molecular biology, genetic diseases, enzymology, biosensors, biopolymers, etc. We are grateful to Professor Nguyen for his participation and support.
We sincerely welcome Professor Joris A. Veltman from Newcastle University, United Kingdom, to join the Editorial Board of OBM Genetics. Professor Joris A. Veltman has extensive experience in genomics, human genetics and translational genomics. We are grateful to Professor Veltman for his participation and support.
We sincerely welcome Professor Marcel Mannens from the Academic Medical Center, University of Amsterdam, the Netherlands, to join the Editorial Board of OBM Genetics. Professor Marcel Mannens has extensive experience in genome diagnostics, cardiogenetics and epigenetics of disease. We are grateful to Professor Mannens for his participation and support.
We welcome Professor Andrés Moya from University of Valencia, Spain, to join the Editorial Board of OBM Genetics. Professor Andrés Moya is the Professor of Genetics from University of Valencia and FISABIO Chair. He has extensive experience in evolutionary genomics of bacterial endosymbionts, genomics of human pathogens and microbiome in eukaryotes. We are grateful to Professor Moya for his participation and support.
We welcome Professor Sonia M. Suter to join the Editorial Board of OBM Genetics. Professor Suter is a law professor at The George Washington University Law School, USA, where she works on legal issues in medicine and genetics as well as bioethics. She has taught Genetics and the Law, and Bioethics and the Law at the University of Michigan Law School. We are grateful to Professor Suter for her participation and support.
We welcome Professor Ruud ter Meulen from the University of Bristol, UK, to join the Editorial Board of OBM Genetics. Professor ter Meulen is particularly interested in justice in health care, the ethics of research, care of older people, and evidence-based medicine. He has published extensively in the field of bioethics, and directed several international research projects, including large-scale projects funded by the European Commission. He was also Professor for Philosophy and Ethics (1992-2005) and Director of the Institute for Bioethics (1995-2005) at the University of Maastricht. We are grateful to Professor ter Meulen for his participation and support.
We welcome Professor Miodrag Stojkovic from the University of Kragujevac, Serbia, to join the Editorial Board of OBM Genetics. Professor Stojkovic is a pioneer in human nuclear transfer (NT), derivation, growth, and differentiation of pluripotent stem cells. He is author and co-author of more than 150 scientific publications. His team is improving the conditions for the efficient differentiation of pluripotent and mesenchymal stem cells, and treatment of neurodegenerative diseases. We are grateful to Professor Stojkovic for his participation and support.
We welcome Professor Darren Griffin from the University of Kent, UK, to join the Editorial Board of OBM Genetics. Professor Griffin is a renowned scholar, specializing in genetics, chromosomes, genome evolution and infertility. We are grateful to Professor Griffin for his participation and support.
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
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
ACUTE Vs CHRONIC Hypoxia
For more details, please visit: http://zuniv.net/symposium8
The main objective of this conference is to bring people together from diverse disciplines to exchange ideas, promote cross-disciplinary collaborations and to form a synthesis of appropriate systems-level approaches. The meeting is therefore purposely broad to cover all aspects of genomics to systems biology, a unique combination that is highly appreciated by the participants. Over the past decade, this EMBL conference has therefore served as an important venue in helping to shape the field, or to be more precise to help generate a community of scientists that come from very diverse disciplines, each with the common goal to understand the systems level properties of their system of interest.
For more details, please visit: https://www.embl.de/training/events/2020/OMX20-01/
Based on the history and tradition of the previous Santorini Conferences, The 10th Santorini conference, SYSTEMS MEDICINE AND PERSONALISED HEALTH & THERAPY – The Odyssey from Hope to Practice: “Patient first – keep Ithaca always in your mind”, will take place in Santorini island from September 28th to October 1st 2020.
In continuity to the previous one (Santorini Conference 2018), The 10th Santorini Conference is using as metaphor the Greek mythology in the spirit of the island and of our thematic obstacles of personalised medicine to resolve and to overcome for the benefit of the patient.
The 10th Santorini Conference contains 8 sessions:
LIQUID BIOPSY, PAST, PRESENT, FUTURE
ADVANCES ON CELLULAR AND MULTI-OMIC APPROACHES
CANCER IMMUNOTHERAPY AND IMMUNOGENETICS
ECON-OMICS: BETTER CARE FOR BETTER COST
GENETIC SCREENING & CLINICAL APPLICATIONS
PHARMACOGENOMICS AND POST-MARKETING APPLICATIONS
For more information about registration and abstracts’ submission please visit the website: http://santoriniconference.org.
This symposium aims to further strengthen a new, highly interdisciplinary community composed of scientists from very different fields and who share a common interest in oscillatory phenomena and biological dynamics. As such, this meeting provides a unique platform for this emerging new community working at the interface between quantitative biology, complex oscillatory systems and physics.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-12/index.html
This conference aims to provide a gathering opportunity for researchers of all levels who are interested in how gene regulation participates in the development and function of the brain, with particular attention to the chromatin-based regulation of gene expression. The key objective is to bring together, in the same meeting, two groups of scientists: neuroscientists with interest in gene regulation and molecular biologists with strong expertise in the mechanisms of transcription and epigenetics that want to apply their knowledge to understanding how the brain works. We believe the two groups can learn a lot from each other and we hope this conference can function as a catalyst for scientific exchange and collaboration between them.
For more details, please visit: https://www.embl.de/training/events/2020/NEG20-01/
The ASHG 2020 Annual Meeting will take place at the San Diego Convention Center, in San Diego, California, from October 27-31, 2020. As the world’s largest human genetics and genomics meeting, ASHG 2020 provides a forum for the presentation and discussion of cutting-edge science across subdisciplines.
For more details, please visit: https://www.ashg.org/2020meeting/index.shtml
Before the genetic information stored in DNA can be used to direct cell growth and metabolism, it has to be transferred into RNA. Messenger RNAs (mRNAs) that code for proteins and noncoding RNAs are key components in the transmission of genetic information in all life forms - from viruses to complex mammalian organisms. Exciting recent findings now reveal a new layer of information added to RNAs in the form of chemical marks (the epitranscriptome) that play a critical role in gene expression control. This remarkable complexity in the lives of RNAs will be discussed at this meeting. The EMBO | EMBL Symposium “The Complex Life of RNA” will bring leaders in the RNA field together with post-docs and students, to disseminate and discuss the most recent results, and will honour Kiyoshi Nagai’s life and many contributions to the field.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-10/
Ground-breaking discoveries in cilia biology have revolutionized our understanding of the critical role of cilia in cell signalling, development, tissue homeostasis and disease. The field continues to grow rapidly as we realize that cilia are vital organelles participating in a broad range of biological processes. Cilia are antenna-like cell organelles that occur on almost all cells of the human body. Many serious diseases are directly attributable to cilia disorders. Despite intensive research, causative therapies are still lacking. Cilia2020 brings clinicians and scientists together and also integrates patient participation.
For more details, please visit: https://www.cilia2020.de/
This symposium will focus on the molecular basis and evolution of sexual dimorphism across animals and other organisms, including the origins, evolution and biology of sex chromosomes. It will cover topics ranging from the evolution of sex determining systems, sex linkage and sex chromosomes, sex-biased gene expression (on autosomes and sex chromosomes) and X chromosome dosage compensation mechanisms, to the evolution of associated dimorphic phenotypes and the underlying selective pressures.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-09/
The EMBL Transcription and Chromatin meeting has a long-standing tradition in shaping the field of transcriptional regulation. The meeting brings together leading experts covering all aspects of transcription including cis-regulatory function, long range regulation, 3-dimensional looping, the basal transcriptional machinery, RNA polymerase regulation and function, nucleosome positioning, chromatin modifications, chromatin remodelling, and epigenetic inheritance of transcriptional silencing. The meeting contains many talks selected from the abstracts that are interspersed with invited speakers, discussing the latest breakthroughs in transcriptional regulation. The conference is designed to promote interactive discussions at both the talks and poster sessions. Given the excellent line up of speakers and the meeting’s outstanding reputation, this is a ‘must’ attend for anyone interested in cutting edge research in transcription.
For more details, please visit: https://www.embl.de/training/events/2020/TRM20-01/
Human Genetics 2020 Conference welcomes you to attend the “7th International Conference on Human Genetics and Genetic Diseases” we cordially invite all the participants who are interested in sharing their knowledge and research in the arena of Genetics.
Human Genetics 2020 Conferences offers the scientific community a platform to share their knowledge in the field of Human Genetics and Genetic Diseases. This conference offers a comprehensive agenda presented through two plenary sessions and panel discussions for the benefit of professionals in the field of Medical, Dental, Pharmacy, Nursing and others, who are engaged in common health problems.
For more details, please visit: https://www.vydya.com/events/human-genetics-2020-2/
The main aim of the European Society of Human Reproduction and Embryology is to promote interest in, and understanding of, reproductive biology and medicine.
ESHRE collaborates globally and advocates universal improvements in scientific research and harmonization in clinical practice. It also provides guidance that enhances safety and quality assurance in clinical and laboratory procedures.
ESHRE’s activities include teaching, training and professional accreditations, as well as developing and maintaining data registries. It also facilitates and disseminates research in human reproduction and embryology to the general public, scientists, clinicians and patient associations.
ESHRE collaborates with politicians and policy makers throughout Europe.
The course has three main objectives:
- To educate and inspire the next generation of scientists, by providing an up-to-date overview of both contemporary and classic topics, spanning state-of-the-art techniques in Drosophila genetics and genomics. Participants will obtain an essential knowledge base, providing the necessary foundation for their own research projects.
- To stimulate the exchange of ideas between established and early career scientists, enabling participants to better direct their research questions.
- To provide networking opportunities, hence fostering collaborations and career development.
For more details, please visit: https://www.embl.de/training/events/2020/DRG20-01/index.html
At the ESHG meeting, we thrive to bring you what is at the forefront of human genetics both scientifically and technologically without losing sight of educating the upcoming generation of human geneticists. It is with these goals in mind that our Scientific Program Committee (SPC) establishes the meeting schedule. It invites the best speakers for the concurrent symposia and selects the best abstracts for oral presentations during the concurrent sessions to create a program that represents the breadth of our specialty. These presentations are completed by a set of educational sessions given by invited speakers and which are aimed to update you on various topics in genetics. Our meeting would not be complete without our exhibitors who advertise their new products to help you in your clinic, your diagnostic laboratory and your experimental work.
For more details, please visit: https://2020.eshg.org/
The 15th International Symposium on Variants in the Genome: detection, genome sequencing and interpretation is also known by the short name of Variant Detection 2020 (prevously known as the Mutation Detection meeting series). The meeting has a long history since 1991. The first meetings focussed on methodology developed to find mutations/variants in DNA. In the years that have passed since, we find cheaper and cheaper methods being used to do the same but more sensitively, effectively and efficiently. In addition, due to the enormous decrease in sequencing cost, methodology concentrated on one main method; sequencing. Consequently, attention and interest has shifted from detecting to evaluating variants; do they effect the health of the individual?
For more details, please visit: http://isv.variome.org/home.html
ECRD is a biennial event that has allowed the rare disease community to gather since 2001 to monitor and benchmark relevant initiatives, drive the policy framework around rare disease diagnosis, treatment and care and empower the rare disease community to drive change where it is needed most. Outputs from these conferences have informed national and local policy initiatives and are referenced in decision-making around the provision of services for the community. The overarching theme for this conference is The rare disease patient journey in 2030. The European Joint Programme on Rare Diseases serves as official partner of the conference and VASCERN is a proud an Associate Partner of this event.
For more details, please visit: https://www.rare-diseases.eu/
Approach to multiple disabilities; Genetic counseling in high risk populations; Intellectual disability; Medical Genetics Guidelines; Transplantation Guidelines for Genetic Diseases; Kidney Diseases; Genetic Education; Genetic Exams; Genomics and Precision Medicine; Immunogenetics; Multidisciplinarity; Neurogenetics; Nutrition Inborn Errors of Metabolism; Oncogenetics; Legal Issues in Medical Genetics; Autistic Spectrum Disorder; Treatment of Metabolism, Inborn Errors
For more details, please visit: https://www.cbgm2020.com.br/home.asp
This inaugural conference aims to address these concerns by focusing on pathways and resources to integrate genomics into clinical practice and nursing education. Overall the conference will focus on three strategic areas:
Methods of achieving genomic competency, implementation, and integration into the practice setting, academic preparation, regulatory guidance and policy;
Mechanisms for international collaborative efforts on nursing genomic integration and evidence-based research;
International genomic nursing competencies, genomic integration assessment tool (ASIGN), and the G2NA implementation roadmap.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/nursing-genomics-healthcare-2020/
Find new directions when biological research communities converge at TAGC. At this unique conference, topic-driven and community-specific sessions alternate to foster collaboration and inspire fresh thinking. Conference Themes including: New Technology and Resources | Genomics and Systems Biology | Evolutionary and Population Genetics | Quantitative Genetics | Developmental Genetics | Intracellular Dynamics | Gene Regulation | Disease Models and Aging | Genome Integrity | Neurogenetics | Ethical, Legal, Social Issues | Training and Education.
For more details, please visit: https://genetics-gsa.org/tagc-2020/
The regulation of the transcriptome is key to cellular processes that underpin cell biology, development and tissue function. All classes of cellular RNA are subject to post-transcriptional modification, be it by direct chemical modification, editing or non-templated nucleotide additions. It is now emerging that the modification status of the transcriptome is dynamic and responsive to environmental/developmental cues. Together, this has elicited the realisation of an ‘epitranscriptome’ where post-transcriptional RNA modification coupled with recruitment of effector RNA binding proteins dynamically regulates genomic output. Importantly, mutations in setting or reading RNA modifications are causative of many human diseases or congenital disorders. This meeting aims to explore all aspects of this emerging topic, from methods development to molecular mechanism. Most importantly, the meeting will place an emphasis on the contribution of RNA modification to mammalian development, tissue homeostasis and disease.
For more details, please visit: https://www.embl.de/training/events/2020/ETC20-01/
3 outstanding programmes bringing together Europe’s key genomics experts in Next Generation Sequencing, Single Cell Analysis, Genome Editing.
80+ case studies, solution & technology presentations & 2 interactive workshops over the 2 days.
07 April 2019 – Day One: Genome Editing Technologies & Techniques; Drug Discovery & Development Applications in In Vivo Therapeutics
08 April 2019 – Day Two: Drug Discovery & Development – Target Identification and Validation; Non-Human Models in Diagnostics & Therapeutics
For more details, please visit: https://www.rsc.org/events/detail/42833/4th-annual-genome-editing-usa-congress
Human Genome Meeting (HGM) is a series of annual conferences organized by the Human Genome Organisation (HUGO). It started as a meeting dedicated for Human Genome Mapping. Over the years, with the completion of the Human Genome Project, HGM has evolved from a small targeted meeting into a scientific conference for all genetic and genomic researchers; an excellent platform for industry partners and bio-technology companies as well as pharmaceutical giants; and a fantastic reunion for fellow scientists and networking opportunity for established and young investigators.
For more details, please visit: http://hugo-hgm2020.org/
We will discuss the principles that govern the three-dimensional folding of the genome in chromosomes and inside the nucleus. Our understanding of how this organisation controls genome function and how it changes over time, both in the context of the cell cycle and in the course of normal development is incomplete. Currently, the study of the spatial organisation of the genome is being revolutionised by new genomics and microscopy techniques. The computational analysis and modelling of such data are delivering new insights into genome structure and function. This symposium will bring together latest advances in the fields of genomics, microscopy and modelling to foster their integration towards a comprehensive spatial and temporal understanding of the functional four-dimensional organisation of the eukaryotic genome.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-03/
The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital setting, we also examine the opportunities and challenges for clinical practice. This year’s meeting will focus on large-scale whole genome sequencing studies that impact on our understanding of rare diseases. There will also be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions exploring regulatory regions beyond the coding regions of the genome, and explore the new therapeutic approaches to rare diseases.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/genomics-rare-disease-2020/
This conference will bring together scientists and clinicians working on neurodegenerative and psychiatric diseases to compare approaches used and the emerging lessons from both categories of disease. This meeting will synthesise the advances and remaining challenges in the genomics of various brain disorders. We will discuss recent insights into genomic architecture and the emerging biology of disease. This year’s meeting will also highlight systems biology and modelling approaches, population studies and emerging tools and technologies. We will also discuss the use of genomics to drive therapeutics.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/genomics-of-brain-disorders-2020/
The cell represents one of the fundamental units of biology, yet only recently has it become possible to carry out comprehensive molecular profiling at single cell resolution. Coupled with appropriate functional experiments, this technological revolution heralds a new era of biology, which is widely expected to generate major advances in our understanding of normal tissue development and homeostasis, immunity and infection as well as tissue pathologies including cancer. This year’s meeting will discuss the biological insights gained from imaging and single cell genomics, particularly in immunology, neurobiology, development and disease. A further focus will be on methods, including computational approaches.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/single-cell-biology-2020/
We are at the dawn of a new era of biology where we will start to understand how organisms function together and react or adapt to changes at different molecular levels. This includes the multitude of stresses that organisms are exposed to, from malnutrition and adverse climate events to many other biological, chemical and physical insults. Progress in biological analyses at both a single scale and across scales, have allowed us to further understand organisms in the context of dynamic environments. These can be environments which are changed by disease, commensal cohabitation or competition, as well as abiotic factors. With the molecular understanding we already have at the cellular and organismal levels, and new tools and quantitative approaches, this symposium will address how genotype and the environment bring about phenotypes at the population level.
For more details, please visit: https://www.embo-embl-symposia.org/symposia/2020/EES20-01/index.html
The course will be delivered by leaders in genomics and participants will have the opportunity to learn from those who developed the tools and are working at the cutting edge of genomic medicine. The programme aims to understand the origin of mutations, the concepts of germline and somatic mutation and their fundamental implications in development and disease. We will review the resources used in filtering and interpretation of data from genome-wide assays; and focus on the pathways and pipelines from DNA sequencing to variant interpretation.
For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/clinical-genomics-2020/
OBM Genetics welcomes the following types of articles: original research, review, communication, opinion, case report, comment, conference report, technical note, book review, etc. There is no restriction on the length of the papers, color figures, supplementary file types. More details please see Instructions for Authors.