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.

Free Publication in 2019

Open Access Short Report

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

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

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

Open Access Editorial

Introduction to Genetic Screening

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

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

Open Access Review

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

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

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

Open Access Communication

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

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

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

Open Access Original Research

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

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

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

Open Access Research Article

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

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

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

Open Access Review

Diagnosis and Treatment of Mitochondrial Abnormalities in Reproductive Medicine

Joep Geraedts
Received: April 8, 2019; Published: August 14, 2019; doi:10.21926/obm.genet.1903089

Abstract: Mitochondrial diseases represent the most common inborn errors of metabolism. The overwhelming majority of mitochondrial diseases (about 85 %) are caused by mutations of nuclear genes of oxidative phosphorylation. The remaining 15 % are caused by mtDNA mutations. The familial mtDNA mutations are exc [...]

Open Access Review

Next-Generation Sequencing-Based Testing in Diagnostic Oncohematology: Untangling the Knots

Ilaria Scarpelli, Fabienne Marcelli, Francesca Mattioli, Jacqueline Schoumans
Received: April 1, 2019; Published: August 9, 2019; doi:10.21926/obm.genet.1903088

Abstract: With the advent of next generation sequencing (NGS), genomic profiling of tumors has gradually been introduced into the clinical setting and become a standard in cancer care. NGS allows easier, faster and cheaper sequencing and commercially available panels enable the detection of single or global [...]

Open Access Research Article

Family History, Genetic, and Other Cause-Related Beliefs among Breast Cancer Survivors

M. Robyn Andersen, Kelsey Afdem, Marcia Gaul, Shelly Hager, Erin Sweet, Leanna J. Standish
Received: February 27, 2019; Published: July 26, 2019; doi:10.21926/obm.genet.1903087

Abstract: Patients’ lay theories about the cause of their cancer may influence patient behavior and adjustment, they have also been found to differ substantially from scientific evidence of cancer risk factors. This report describes beliefs about genetic causes of breast cancer, among 522 recently diagnosed b [...]

Open Access Original Research

The Evolution of DNA Typing in Agri-Food Chain

Melania Formisano, Giandomenico Corrado
Received: June 11, 2019; Published: July 23, 2019; doi:10.21926/obm.genet.1903086

Abstract: Background: DNA typing has revolutionised not only diagnostics and forensics but also how we can analyse food. A number of techniques have been successfully applied for DNA analysis of plant-derived food however, unlike forensics, no method has become universally employed. Methods: A keyword-based s [...]

Open Access Case Report

Constitutional Partial Proximal Trisomy 14q11.2 to 14q21: Two New Moroccan Cases and Review of the Literature

Hanane Merhni, Maria Zerkaoui, Abdelhafid Natiq, Aziza Sbiti, Thomas Liehr, Abdelaziz Sefiani
Received: July 25, 2018; Published: July 22, 2019; doi:10.21926/obm.genet.1903085

Abstract: Small supernumerary marker chromosomes (sSMCs), a major problem in clinical cytogenetics, are too small to be characterized for their chromosomal origin by cytogenetic banding techniques. Most sSMCs have not yet been correlated with a specific clinical syndrome, and genotype-phenotype correlation in [...]

Open Access Review

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Georgia Kakourou, Thalia Mamas, Christina Vrettou, Jan Traeger-Synodinos
Received: June 03, 2019; Published: July 22, 2019; doi:10.21926/obm.genet.1903084

Abstract: Preimplantation Genetic Testing for HLA-matching (PGT-HLA) has been one of the most controversial PGT applications, first reported in 2001. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the family in need of haematopoietic stem cell transpla [...]

Open Access Original Research

Genes Coding for GPI Biosynthesis in Pneumocystis Experienced Relaxed Selection: A Follow-up Study

Luis Delaye
Received: May 5, 2019; Published: July 11, 2019; doi:10.21926/obm.genet.1903083

Abstract: Background: Phylogenetic analyses shows that Pneumocystis species have coevolved with their mammalian hosts for millions of years. As a result, infection by Pneumocystis is species specific (i.e. a given Pneumocystis species can infect only a single species of host). This specificity suggests the ex [...]

Open Access Original Research

Individual Radiosensitivity in Lung Cancer Patients Assessed by G0 and Three Color Fluorescence in Situ Hybridization

Theresa Mayo, Barbara Schuster, Anna Ellmann, Manfred Schmidt, Rainer Fietkau, Luitpold V. Distel
Received: July 27, 2018; Published: June 26, 2019; doi:10.21926/obm.genet.1902082

Abstract: Background: It is known that radiosensitivity is very individual. This can influence the tumor response and side effects in normal tissue after radiotherapy of cancer. Therefore we analyzed the sensitivity of a lung cancer cohort to see if they display a similar radiosensitivity distribution if comp [...]

Open Access Case Report

A De Novo Childhood Case of T-cell Lymphoblastic Leukemia with High Hyperdiploid Karyotype Carrying an Unreported Balanced Translocation t(X;5)(q26;q31.3~32) in A Male Patient

Walid AL-ACHKAR, Manar As’sad, Thomas Liehr, Adnan Ikhtiar, Abdulsamad Wafa
Received: August 14, 2018; Published: June 20, 2019; doi:10.21926/obm.genet.1902081

Abstract: (1) Background: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes with multiple genetic abnormalities, accounting for 15% and 25% of newly diagnosed cases of ALL in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males. Cytogenet [...]

Open Access Review

Airborne Interindividual Transmission of Pneumocystis jirovecii

Laurence Pougnet, Solène Le Gal, Gilles Nevez
Received: December 17, 2018; Published: May 22, 2019; doi:10.21926/obm.genet.1902080

Abstract: Pneumocystis pneumonia (PCP) is still the most frequent AIDS-defining disease in developed countries and also concerns patients with other immunodeficiencies not associated with HIV. Experimental studies on rodent models carried out in the early eighties have showed that Pneumocystis sp. can be tran [...]

Open Access Review

The Changed Transcriptome of Muscular Dystrophy and Inflammatory Myopathy: Contributions of Non-Coding RNAs to Muscle Damage and Recovery

Boel De Paepe
Received: February 28, 2019; Published: May 16, 2019; doi:10.21926/obm.genet.1902079

Abstract: In order to successfully recover from damage, skeletal muscle tissue requires proper activation of a tightly orchestrated repair program. To this complex process of demolition and rebuilding, non-coding RNAs actively participate. In this review, the contribution of dysregulated non-coding RNA expres [...]

Open Access Review

Pneumocystis Species Co-evolution: State-of-the-Art Review

Christine Demanche, Jacques Guillot, Magali Chabé
Received: February 22, 2019; Published: May 15, 2019; doi:10.21926/obm.genet.1902078

Abstract: At the end of the 20th century, the notion of a unique species in the genus Pneumocystis (i.e. Pneumocystis carinii) was challenged and our understanding of the natural history of pneumocystosis was drastically changed. It is now accepted that the Pneumocystis genus comprises multiple stenoxenic bio [...]

Open Access Case Report

Diagnosis of Fetal Kabuki Syndrome By Exome Sequencing Following Non-Specific Ultrasound Findings

Hagit Daum, Simcha Yagel, Mordechai Shohat
Received: March 11, 2019; Published: May 15, 2019; doi:10.21926/obm.genet.1902077

Abstract: Fetal exome sequencing is becoming a crucial modality for genetic investigation whenever fetal malformations are documented in the context of normal chromosomal microarray analysis (CMA). When ultrasound findings are non-specific, the robustness of exome sequencing may be the only way to achieve a m [...]

Open Access Review

FISHing for Unstable Cellular Genomes in the Human Brain

Yuri B. Yurov, Svetlana G. Vorsanova, Ivan Y. Iourov
Received: February 6, 2019; Published: April 30, 2019; doi:10.21926/obm.genet.1902076

Abstract: The human brain has been repeatedly shown to exhibit intercellular/somatic genomic variations at chromosomal level, which are involved in neuronal diversity in health and disease. Brain-specific chromosomal mosiacism (aneuploidy) and chromosome instability play a role in normal and pathological neur [...]

Open Access Editorial

Epigenetics is Here to Stay

Marcel Mannens
Received: April 24, 2019; Published: April 30, 2019; doi:10.21926/obm.genet.1902075

Abstract: none

Open Access Review

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs

Rita Payan-Carreira
Received: December 30, 2018; Published: April 29, 2019; doi:10.21926/obm.genet.1902074

Abstract: In mammals, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated from the sex chromosomal complement, which triggers a series of genetic pathways that signal the pattern of development of the gonad anlage. In males, the presence of the [...]

Open Access Case Report

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Racha El-Hajj Ghaoui, Dorothy Hung, Bhavna Padhye
Received: December 24, 2018; Published: April 17, 2019; doi:10.21926/obm.genet.1902073

Abstract: Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (2 [...]

Open Access Review

RNA Editors and DNA Mutators: Cancer Heterogeneity Through Sequence Diversification

Rafail Nikolaos Tasakis, F. Nina Papavasiliou, Rita Shaknovich
Received: December 3, 2018; Published: April 8, 2019; doi:10.21926/obm.genet.1902072

Abstract: Cancer development and progression is strongly associated with somatic mutations. From oncogenic hits that initiate the primary tumor formation till metastasis, the tumor mutational burden (TBM) plays a prominent role in disease progression for the vast majority of cancer types. Heterogeneous mutati [...]

Open Access Review

Molecular Mechanisms of Canine Cancers

Jennie Cao, Valentina L Kouznetsova, Igor F Tsigelny
Received: January 30, 2019; Published: April 1, 2019; doi:10.21926/obm.genet.1902071

Abstract: Cancer is the leading cause of death in dogs, and 50 percent of dogs over the age of 10 develop cancer at some point. The most common cancers in dogs include lymphoma, mast cell tumors, osteosarcoma, mammary gland tumors, and melanoma, and many of these share marked similarities with their human cou [...]

Keystone Symposia: Leveraging Genomic Diversity to Promote Animal and Human Health

November 25-29, 2018, Kampala, Uganda

Conference Flyer: http://www.keystonesymposia.org/index.cfm?e=Web.Meeting.Flyer&MeetingID=1651

Keystone Symposia will serve as a catalyst for the advancement of biomedical and life sciences by connecting scientists within and across disciplines at conferences and workshops held at venues that create an environment conducive to information exchange, generation of new ideas and acceleration of applications that benefit society.

For more details, please visit: http://www.keystonesymposia.org/18S5

Genomics for Dermatology

November 19-21, 2018, Hinxton, Cambridge, UK

This course is designed to provide an introduction to genomics and bioinformatics for those working in dermatology and skin biology. The programme will provide a common understanding of genomics as applied to the skin and update attendees without recent exposure to advances in genetics of the skin. It will focus on genomic technologies including next generation sequencing and bioinformatics analysis. It will provide an overview of the current understanding on monogenic and polygenic skin diseases, and cancer genetics as applied to melanoma and non-melanoma skin cancers. Participants will be exposed to the methods required to analyse large data sets. There will also be a focus on the application of genomics to clinical practice.

For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/genomics-dermatology-2018/

Genomic Medicine 2018

December 5-6, 2018, Cambridge, UK

The second annual Genomic Medicine 2018 Cambridge will place on 5th & 6th December 2018 at Murray Edwards College in Cambridge and again as a partnership between Biotexcel, East of Anglia Genetics Service, Clinical Genetics at the University of Cambridge & the East of England NHS Genomic Medicine Centre. The running scientific theme for this meeting like other Biotexcel genomic meetings will cover the areas where Next Generation Sequencing is used in the analysis of human disease. These topics will include different disease areas where particularly promising genomic studies have been performed; large population studies; whole genome & whole exome studies; epigenomics and many other topics. In this meeting we will also hear from commercial genomic companies, whether those that currently have genomic solutions on the market, or those that are spin-outs or in the research or earlier phases.

For more details, please visit: https://biotexcel.com/event/genomic-medicine-2018-cambridge/

European Society of Human Genetics (ESHG) 2019

June 15-18, 2019, Gothenburg, Sweden

On behalf of the board of the European Society of Human Genetics, it is my privilege to invite you to the annual European Human Genetics Conference, which in 2019 will take place in the beautiful city of Gothenburg, Sweden, from the 15th to the 18th of June. As a Norwegian I am especially pleased to welcome you to a meeting in Scandinavia that will let you experience the famous Scandinavian mid-summer. If you have time I recommend to stay a few extra days to experience the magnificent Swedish west coast.

For more details, please visit: https://2019.eshg.org

Antimicrobial Resistance – Genomes, Big Data and Emerging Technologies

November 27-29, 2018, Hinxton, UK

Antimicrobial resistance has become a major challenge in our globalised world and tackling it will take the combined resources and effort of researchers working across different disciplines. This meeting will highlight the importance of Big Data and genomics in the fight against AMR. It will showcase recent advances in the rapidly emerging field of machine learning to predict AMR, approaches to monitor and evaluate the global burden of disease, novel technologies for the diagnosis of drug-resistant infections, and the use of pathogen genomics to address critical questions relating to surveillance, epidemiology, transmission and treatment of drug-resistant infections.

For more details, please visit: https://coursesandconferences.wellcomegenomecampus.org/our-events/antimicrobial-resistance-2018/

20th EMBL PhD Symposium: Game Changers

November 22-24, 2018, EMBL Heidelberg, Germany

Join us for the 20th Anniversary of the annual EMBL PhD Symposium. Since its conception in 1999, the EMBL PhD Symposium has evolved into a highly respected scientific meeting, connecting young researchers and high-profile scientists alike. This year, we invite you to celebrate revolutionary ideas in molecular life sciences and explore the game-changing ideas that are shaping the face of modern science. Come and join us at the 20th EMBL PhD Symposium, for three days of exciting and game-changing science.

For more details, please visit: http://phdsymposium.embl.org/#about

OBM Genetics welcomes the following types of articles: original research, review, communication, opinion, case report, comment, conference report, technical note, book review, etc. There is no restriction on the length of the papers, color figures, supplementary file types. More details please see Instructions for Authors.

Register and Submit now.

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