DNA methylation episignatures: insight into copy number variation.

In this review we discuss epigenetic disorders that result from aberrations in genes linked to epigenetic regulation. We describe current testing methods for the detection of copy number variants (CNVs) in Mendelian disorders, dosage sensitivity, reciprocal phenotypes and the challenges of test selection and overlapping clinical features in genetic diagnosis. We discuss aberrations of DNA methylation and propose a role for episignatures as a novel clinical testing method in CNV disorders.

DNA methylation as the link between migration and the major noncommunicable diseases: the RODAM study.

We assessed epigenome-wide DNA methylation (DNAm) differences between migrant and non-migrant Ghanaians. We used the Illumina Infinium HumanMethylation450 BeadChip to profile DNAm of 712 Ghanaians in whole blood. We used linear models to detect differentially methylated positions (DMPs) associated with migration.

Prevalence and determinants of type 2 diabetes among lean African migrants and non-migrants: the RODAM study.

Background: Exposure to adverse conditions earlier in life-course can predispose to type 2 diabetes in adulthood, irrespective of body mass index (BMI). However, the burden of type 2 diabetes in lean Africans is not well understood despite higher exposure to adverse early life conditions. Mirroring ongoing epidemiological transition, we assessed the burden and determinants of type 2 diabetes in a homogenous group of lean Ghanaians residing in rural and urban Ghana, and as migrants in Europe.

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.

Fetal alcohol spectrum disorder (FASD) involves prenatal growth delay, impaired facial and CNS development and causes severe clinical, social-economic burdens. Here, we aim to detect DNA-methylation aberrations associated with FASD and potential FASD diagnostic and prognostic biomarkers.  The FASD diagnosis was established according to golden-standard protocols in a discovery and independent replication cohort.

The idiopathic preterm delivery methylation profile in umbilical cord blood DNA.

Background: Preterm delivery is the leading cause of neonatal morbidity and mortality. Two-thirds of preterm deliveries are idiopathic. The initiating molecular mechanisms behind spontaneous preterm delivery are unclear.

Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.

Genetic disorders are often caused by nonsynonymous nucleotide changes in one or more genes associated with the disease. Specific amino acid changes, however, can lead to large variability of phenotypic expression. For many genetic disorders this results in an increasing amount of publications describing phenotype-associated mutations in disorder-related genes.