by Martina C Cornel

Received: 13 July 2017;  Published: 11 February 2018;  doi: 10.21926/obm.genet.1801013

Technology makes it possible to expand many of the current screening programs. Initiatives for preconception screening of carrier status of recessive diseases, prenatal screening of aneuploidies and neonatal screening were initially undertaken by targeting one or at most, a few, conditions. Tandem mass spectrometry and genomic technologies, such as sequencing and panel testing, make it possible to increase the scope of these programs to include more disorders or markers. While inclusion of a larger number of condit [...]

by Khue Vu Nguyen

Received: 18 January 2018;  Published: 31 January 2018;  doi: 10.21926/obm.genet.1801012

With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic and epigenetic regulation in diseases are a major cause of disability, death, and human tragedy. Here, I discuss current knowledge about this matter including the diagnosis, counseling, treatment and management as well as some current therapeutic interventions such as gene, stem cell, epigenetic therapies and future directions in the field.

by Kerstin Grund  , Dominik Sturm  , Christian Sutter  , Felix Sahm  , Katrin Hinderhofer  , Christian Kratz  , Daniel Schrimpf  , Andreas von Deimling  , Kristian W. Pajtler  , David TW Jones  , Stefan M. Pfister  and Nicola Dikow

Received: 01 September 2017;  Published: 05 December 2017;  doi: 10.21926/obm.genet.1704011

The study “Molecular Neuropathology 2.0” (MNP2.0) offers an integrated histo-molecular diagnosis including the detection of potential therapeutic targets for a large cohort of pediatric patients with primary CNS tumors. After obtaining parental and/or patient consent, in this study germline DNA analysis of all study subjects bridges the gap between scientific genetic analysis and medical care. The study’s workflow takes into consideration the conditions of a multicenter study, legal stipulations, as well as the nee [...]

by Myrto Poulou  and Maria Tzetis

Received: 31 July 2017;  Published: 01 November 2017;  doi: 10.21926/obm.genet.1704010

Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity and mortality. Because of the severe clinical manifestations and the shortened life expectancy of patients, population based carrier screening, to identify heterozygous carrier couples at risk of having affected childre [...]

by Karen Sermon

Received: 11 August 2017;  Published: 26 October 2017;  doi: 10.21926/obm.genet.1704009

The main aim of PGS has always been to improve IVF outcome, especially in patient groups assumed to have higher rates of chromosomally abnormal embryos, such as patients of advanced maternal age. In that sense, PGS is quite different from other types of screening as discussed in other papers in this issue.Today it bears no doubt that blastocysts found to be uniformly aneuploid in a biopsy will fail to implant, or worse, will implant and lead to a pregnancy and birth carrying a major chromosomal abnormality, such as [...]

by Kazuki Mochizuki  , Chihiro Imai  , Noriko Sato  and Takeo Kubota

Received: 20 June 2017;  Published: 19 October 2017;  doi: 10.21926/obm.genet.1704008

A number of epidemiological studies have suggested that environmental stresses, such as malnutrition during the fetal period, can induce development of metabolic disorders, such as obesity, type 2 diabetes, and hypertension, and and even psychiatric disorders in later life. This theory model is known as the Developmental Origins of Health and Disease (DOHaD) theory, in which postulates that “epigenetic memories”, involving DNA methylation, histone modifications and microRNA expression, are induced by environmental [...]

by Sylvie Langlois  and R Douglas Wilson

Received: 01 August 2017;  Published: 26 September 2017;  doi: 10.21926/obm.genet.1703007

Prenatal genetic aneuploidy screening approaches are designed to identify pregnant patients at increased risk of having a fetus affected. Conventional prenatal screening has consisted in providing women a risk estimate of having a pregnancy affected with trisomy 21 or trisomy 18 based on maternal age and analysis of serum markers and ultrasound nuchal translucency (NT) measurement. In 2011, the introduction of cell-free DNA (cfDNA) based screening into clinical practice has provided new options for aneuploidy scree [...]

by Anne-Marie Laberge  and Wylie Burke

Received: 30 July 2017;  Published: 21 September 2017;  doi: 10.21926/obm.genet.1703006

Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers expanded opportunities for early identification of disease, the availability of a suitable and acceptable test is not a sufficient justification to proceed: established crite [...]

by John Old  and Cornelis Harteveld

Received: 03 July 2017;  Published: 14 August 2017;  doi: 10.21926/obm.genet.1703005

Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving public education, carrier screening, genetic counselling and prenatal diagnosis in Mediterranean countries. The application of a wide variety of PCR-based molecular diagnostic tec [...]

by Mark Stoneking

Received: 10 April 2017;  Published: 02 June 2017;  doi: 10.21926/obm.genet.1702004

none, this is an opinion piece