Posts Categorized: Part 03: GENERAL THEMES

Cell programming?

Posted by & filed under Part 03: GENERAL THEMES, Tools.

Cells respond to the environment and perform their different functions via computational operations performed by DNA-encoded circuits that process sensory information. More specifically, these operations are performed by networks of regulatory proteins that integrate signals and control the timing of gene expression. Cells can be programmed using synthetic genetic circuits to generate a desired operation. […]

Tools for IEM patients: Metabolic Diet App Suite

Posted by & filed under Part 03: GENERAL THEMES.

Ho et al (Molecular Genetics and Metabolism, 2016, 17: 322-327) introduced an online tool for both mobile devices and desktop computers that allows individuals with one of 15 different IEMs to plan and record meals based on individual recommendations. This app also has links to other line resources. The app is freely available at This […]

Somatic mutation in single human brain cells

Posted by & filed under Exome sequencing, Part 03: GENERAL THEMES, Part 28: NEUROGENETICS.

Neurons live for decades in a postmitotic state and their genomes are susceptible to DNA damage. Using genome sequencing for individual human brain cells (postmortem), Lodato et al. have searched for somatic single-nucleotide variants (SNVs) in the human brain. After sequencing 36 neurons from the cerebral cortex of three normal individuals, they demonstrated that the […]

Meta-analysis: heritability of different traits

Posted by & filed under Part 03: GENERAL THEMES.

Polderman et al. recently published in Nature Genetics a meta-analysis of twin correlations and reported variance components for 17,804 traits. In total, 2,748 publications including 14,558,903 partly dependent twin pairs, virtually all published twin studies of complex traits, were taken into consideration. For 69% of the traits studied, the observed twin correlations are consistent with […]

The gut microbiota influence blood brain barrier integrity

Posted by & filed under Part 03: GENERAL THEMES.

Braniste et al. recently reported in Science Translational Medicine (2014 Nov 19;6(263):263ra158. doi: 10.1126/scitranslmed.3009759) that the permeability of the mouse blood brain barrier (BBB) is influenced by the gut microbiome. They showed that germ-free mice, beginning in intrauterine life, displayed increased BBB permeability compared to mice of the same strain with normal gut flora. The increased BBB permeability was […]

New genomic technologies, PGD/Prenatal Genetics and society

Posted by & filed under Exome sequencing, Part 03: GENERAL THEMES, Part 06: DIAGNOSTIC APPROACHES.

As in every other field of science, the experts in medical genetics should collaborate closely with policy and law-makers to guide the usage of the new technologies. This is particularly important at present time in the context of the advancement of genomic technologies. A recent article by Farra et al. (retrospective cohort study) published in […]

Interplay between nature and nurture in reading achievement

Posted by & filed under Part 03: GENERAL THEMES.

Plomin R, Shakeshaft NG, McMillan A, Trzaskowski M. Nature, Nurture, and Expertise. Intelligence. 2014 Jul;45:46-59. In a cross-sectional twin study, Plomin et al explore the genetic and environmental underpinnings of reading expertise, defined as performance above the 95th percentile on a comprehensive reading test at age 12. They find that more than half of the difference in performance between […]

Reduction of false positives in Newborn Screening

Posted by & filed under Part 03: GENERAL THEMES.

False positive newborn screening can represent a significant burden both emotionally and financially. Morris et al (Genetics in Medicine, 6(16), 2014) describes a protocol designed to reduce false positive screens in infants in a neonatal intensive care unit (NICU) setting. As part of this protocol,  total parenteral nutrition was replaced with dextrose/electrolyte fluid containing IV fluids for 3 h […]

A semi-synthetic organism with an expanded genetic alphabet.

Posted by & filed under Part 03: GENERAL THEMES.

Genomic information is generally encoded based on a two-base-pair genetic alphabet (A–T and G–C). In vitro, the alphabet has been expanded to include several unnatural base pairs (UBPs). One such UBP is the pair formed between d5SICS and dNaM (d5SICS–dNaM) nucleotides bearing hydrophobic nucleobases. d5SICS–dNaM is efficiently PCR-amplified and transcribed in vitro, and its unique mechanism […]

Genomically recoded organisms

Posted by & filed under Part 03: GENERAL THEMES, Treatment.

The fact that the canonical genetic code is nearly universal is thought to allow natural organisms to share beneficial traits via horizontal gene transfer. However, given that genetically modified organisms also share the same genetic code, they are susceptible to viruses and capable of releasing recombinant genetic material, such as resistance genes, into the environment. […]