Table of Content

Open Access Review

Next Generation Sequencing in Autism Spectrum Disorder

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 identi [...]

1037 6804

Open Access Opinion

Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life

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 genom [...]

963 4352

Open Access Editorial

Special Issue: Treatment of Genetic Disease

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 includi [...]

970 6297

Open Access Original Research

Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Families

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 scientif [...]

946 5663

Open Access Review

Carrier Screening for Cystic Fibrosis: Past, Present and Future

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 [...]

1036 5673

Open Access Review

Preimplantation Genetic Screening

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 [...]

862 4949

Open Access Review

The Role of Epigenetics in Developmental Programming and the Developmental Origins of Health and Disease

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 Develop [...]

1241 8089

Open Access Review

Prenatal Screening for Fetal Aneuploidy

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 ag [...]

876 6197

Open Access Review

Avoiding the Technological Imperative: Criteria for Genetic Screening Programs

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 t [...]

859 5068

Open Access Review

Carrier Screening for the Haemoglobinopathies: Past, Present and Future

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 pr [...]

1096 7425