by Florence Dupré  , Ciro Comparetto  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, in order to evaluate the possible reproductive risk for the patient and his family. The geneticist is also called to play a diagnostic and preventive role for some of the most frequent diseases, such as cardiovascular disease and cancer. Methods: State-of-the-art by literature review. Results: Genetic counseling is a [...]

by Kjeld C. Engvild

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

The Hansemann-Boveri aneuploidy theory, the Warburg aerobic glycolysis theory, and the Knudson two-hit mutation theory can be seen as different aspects of a theory where the very common chromosome missegregation damage is mitigated by several quite different mechanisms. Cancer only occurs when all of these mechanisms have been inactivated in a single cell line, typically by mutation, for example by carcinogens. There are at least 5 different repair mechanisms which implies a multiple hit factor of at least 5. The r [...]

by Kenneth Lundstrom

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

A strong association has been established between nutrition and disease risk confirmed by epidemiological data and meta-analysis. In the context of cancer, unhealthy diets have been demonstrated to increase the risk of disease. On the other hand, major dietary interventions and lifestyle changes have provided therapeutic efficacy in cancer patients. Genetic mechanisms have been associated with cancer development triggered by environmental and nutritional factors. Genetics plays an important role in the design of pe [...]

by Jacques Pédron  and Frédérique Van Gijsegem

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

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

by

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

IGF2 is a strongly mitogenic peptide and imprinted gene primarily involved in foetal development. In the foetus, IGF2 is highly expressed and is involved with foetal growth and tissue differentiation. However, postnatally IGF2 expression decreases although its expression level is still higher in blood than of IGF1. In adults, the physiological function of IGF2 is poorly understood, but may have a metabolic function. Although expression of IGF2 normally decreases in adults, IGF2 is overexpressed in a variety of canc [...]

by Sophia Delicou  , Konstantinos Magganas  , 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 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 woman who was referred to an 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 [...]

by Caymen M. Novak  , Eric N. Horst  , Shreya Raghavan  and Geeta Mehta

Received: 17 June 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903092

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 been implicated in mechanotransduction of breast cancers. However, it is not currently known if shear stress mediated mechanotransduction is mediated by COX2. Therefore, in this report, we hypothesized that COX2 modulat [...]