by Tobias Geis  , Ute Hehr  , Roland Brandl  , Saskia Herbst  , Hugo Segerer  , Michael Melter  and Sophie Hinreiner

Received: 31 August 2017;  Published: 06 March 2018;  doi: 10.21926/obm.genet.1801015

Background: Neonatal muscular hypotonia is a common clinical feature on neonatal intensive care units with a broad spectrum of etiologies. Besides more common and obvious underlying conditions like prematurity or Down syndrome many rare disorders with often poor prognosis need to be considered. Congenital brain malformations detected on ultrasound or/and magnetic resonance imaging might constitute the clinical hallmark in differential diagnosis. We report on our approach combining cerebral imaging and application o [...]

by Jiani Yin  , David Oleson  and Christian P. Schaaf

Received: 31 August 2017;  Published: 24 February 2018;  doi: 10.21926/obm.genet.1801014

Autism spectrum disorder is a clinically heterogeneous condition, characterized by social deficits, language impairment, repetitive behaviors, and restricted interest. Autism displays significant genetic heterogeneity. In the past one and a half decades, next generation sequencing has enabled identification of many variants that predispose to autism. These discoveries have improved understanding of the disease etiology of autism spectrum disorder. In this review article, we will address how development of next gene [...]

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. In preconception screening for carrier status of recessive diseases, prenatal screening for aneuploidies and neonatal screening initially programs were targeting one or a few conditions. Tandem mass spectrometry and genomic technologies, such as sequencing and panel testing, make it possible to increase the scope of the programs to include more disorders or markers. While inclusion of more similar conditions may lead to a better achievem [...]

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 MNP 2.0 study offers a specified oncologic diagnosis and the detection of possible therapeutic targets for a large cohort of pediatric neurooncologic patients. With the parents / patients agreement the study also performs germline analysis of all included patients and thereby translates scientific analysis in medical genetic care. This requires a workflow in consideration of the conditions of a multicenter study and the legal stipulations, as well as a closed interdisciplinary cooperation. We present our elabor [...]

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 a [...]

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 psychiatric disorders in later life. This theory is known as the Developmental Origins of Health and Disease (DOHaD), in which “epigenetic memories”, involving DNA methylation, histone modifications and microRNA expression, are induced by environmental stresses during development. For exampl [...]

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 [4]. In 2011, the introduction of cell-free DNA (cfDNA) based screening into clinical practice has provided new options for aneuploid [...]

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 [...]