by Joep Geraedts

Received: 13 January 2020;  Published: 14 January 2020;  doi: 10.21926/obm.genet.2001102

At the beginning of a new year it is always good to look both backwards and forwards and to highlight a few items that are relevant with respect to the long-term development of our journal. As everybody knows, the principle of open access publishing is that the authors pay fees (the article‐processing charges or APCs) to publish in the journal rather than that the readers pay subscription costs for the journal. Three years ago, OBM Genetics started as an open access journal publishing its first papers totally free [...]

by Ciro Comparetto  , Florence Dupré  and Franco Borruto

Received: 15 July 2019;  Published: 12 December 2019;  doi: 10.21926/obm.genet.1904101

Background: Clinical or medical genetics deals with the study and diagnosis of genetic diseases. It is oriented to the formulation of the clinical diagnosis of genetic diseases and genetic counseling to evaluate the possible reproductive risk for the patient and his/her family. The geneticists here play a role in the diagnosis and prevention of some of the diseases occurring most frequently, such as cancer and cardiovascular diseases. Methods: State-of-the-art through literature review. Results: Genetic counseling [...]

by Kjeld C. Engvild

Received: 17 July 2019;  Published: 03 December 2019;  doi: 10.21926/obm.genet.1904100

Hansemann-Boveri’s aneuploidy theory, the Warburg effect, and the Knudson hypothesis can be viewed as different aspects of a single theory of cancer. In this, the extremely common chromosome missegregation may be the underlying cause. Chromosome missegregation is mitigated via several mechanisms. Cancer can occur only when all of these mechanisms have been inactivated in a single cell line, typically by mutation. There are at least five different repair mechanisms, implying a hit-factor of at least five. These miti [...]

by Kenneth Lundstrom

Received: 01 October 2019;  Published: 28 November 2019;  doi: 10.21926/obm.genet.1904099

Epidemiological data and meta-analysis have confirmed that there exists a strong association between nutrition and disease risk. In the context of cancer, it has been demonstrated that unhealthy diets increase the risk of disease. On the other hand, major dietary interventions and lifestyle changes have been demonstrated to provide therapeutic efficacy in cancer patients. Genetic mechanisms have been reported to be associated with cancer development induced by environmental and nutritional factors. Genetics plays a [...]

by Jacques Pédron  and Frédérique Van Gijsegem

Received: 25 July 2019;  Published: 26 November 2019;  doi: 10.21926/obm.genet.1904098

Background: Genus Dickeya comprises aggressive soft rot plant pathogens with wide geographic distribution and host ranges. Ten Dickeya species were characterized. Seven of them (Dickeya chrysanthemi, D. dadantii, D. dianthicola, D. fangzhongdai, D. solani, D. paradisiaca, and D. zeae) group causative agents of maceration-associated diseases that impact a wide variety of crops or ornamentals as well as isolates from fresh water. The other three species (D. aquatica, D. lacustris, D. undicola) were recently isolated [...]

by Xuhua Xia

Received: 09 June 2019;  Published: 17 October 2019;  doi: 10.21926/obm.genet.1904097

Phage as an anti-bacterial agent must be efficient in killing bacteria, and consequently needs to replicate efficiently. Protein production is a limiting step in replication in almost all forms of life, including phages. Efficient protein production depends on the efficiency of translation initiation, elongation and termination, with translation initiation often being rate limiting. Initiation signals such as Shine-Dalgarno (SD) sequences and start codon are decoded by anti-SD sequences and initiation tRNA, respect [...]

by Bas T Röttgering  and Karoly Szuhai

Received: 14 May 2019;  Published: 14 October 2019;  doi: 10.21926/obm.genet.1904096

Insulin-like growth factor 2 (IGF2) is a strong mitogenic peptide with an imprinted gene that is primarily involved in fetal development. It is highly expressed in the fetus where it is involved in fetal growth and tissue differentiation. However, postnatally, the expression of IGF2 decreases despite higher expression levels in the blood as compared with that of IGF1. In adults, the physiological function of IGF2 is poorly understood; however, the possibility of a metabolic function exists. Although the expression [...]

by Konstantinos Magganas  , Sophia Delicou  , Aikaterini Xydaki  and Zoi Pallantza

Received: 19 May 2019;  Published: 17 September 2019;  doi: 10.21926/obm.genet.1903095

Thalassemia syndromes are a group of hemoglobinopathies characterized by gene defects that disrupt normal hemoglobin production. Thalassemia intermedia (TI) is referred to as a group of disorders with a less severe form of the disease compared to thalassemia major. We present a case of a 60-year-old woman who was referred to a hematologist for chronic anemia and splenomegaly.

by Johanne Traeger-Synodinos  and François Rousseau

Received: 06 September 2019;  Published: 11 September 2019;  doi: 10.21926/obm.genet.1903094

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

by Damien Bouvier  and Yves Giguère

Received: 01 July 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903093

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 pre-symptomatic treatment will significantly decrease morbidity and mortality. While NBS for a few other disorders was implemented in some specific jurisdictions over the following decades, it is with the introduction of [...]