Posts By: Yannis Trakadis

Tyrosinemia & NTBC: 168 patients

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

Mayorandan et al. performed a cross-sectional study on Hepatorenal tyrosinaemia. Questionnaires were used to collect retrospective data about 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel). The results of this study highlight the importance of NTBC accompanied by natural protein restriction (supplemented with essential amino acids) in the prevention of complications […]

FOXG1 related disorders and outcome

Posted by & filed under Part 28: NEUROGENETICS.

Patients with FOXG1-related disorders have severe intellectual disability, absent speech, autistic features, and epilepsy. Children with deletions or intragenic mutations of FOXG1 also have postnatal microcephaly and structural corpus callosum abnormalities. Seltzer et al. reported on the epilepsy characteristics and developmental outcome of 30 patients with FOXG1 mutations (23 with deletions or intragenic mutations of FOXG1, and 7 […]

Liver transplantation in CDG

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Treatment.

Janssen et al. recently reported the first successful liver transplantation in a Congenital Disorders of Glycosylation (CDG), and specifically in  phosphomannose isomerase deficiency (MPI-CDG). MPI-CDG has been considered a treatable disorder usually presenting with hepato-intestinal pathology. Treatment with mannose can improve the life-threatening protein-losing enteropathy and coagulation disorder but patients ultimately develop progressive liver insufficiency. […]

Creation of a fully intact and functional organ

Posted by & filed under Part 20: IMMUNE AND DEFENSE SYSTEMS, Treatment.

Bredenkamp et al. recently described how cellular reprogramming can be used to generate an entire organ for transplantation, using cells manipulated in the lab. The novelty of this study compared to past studies demonstrating the production of defined cell types in vitro, is that Bredenkamp et al. describe for the first time the creation of […]

Genome sequencing and severe intellectual disability

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Severe intellectual disability occurs in 0.5% of newborns. Over the last years, using microarrays and exome sequencing has aided in the explanation of a big proportion of ID. Gilissen et al (2014) applied whole-genome sequencing to 50 patients with severe ID (whose extensive genetic work-up, including microarray and exome sequencing, was negative) and their unaffected parents. 84 de novo SNVs affecting the coding region were […]

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 […]

Exome sequencing redefining phenotypes

Posted by & filed under Exome sequencing, Part 06: DIAGNOSTIC APPROACHES, Part 28: NEUROGENETICS, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

One would intuitively expect that Whole-exome sequencing (WES) will help broaden the phenotypic spectrum of known syndromes since in the past only patients closely matching the described phenotype of a documented genetic syndrome would be tested for the respective diagnosis. Some recent examples illustrating the direction the field is moving include the publications of Dr. […]

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. […]

CRISPR-based platform for RNA-guided DNA targeting

Posted by & filed under Treatment.

A naturally observed phenomenon in prokaryotic organisms is the CRISPR/Cas adaptive immune system for site-specific DNA cleavage. The clustered regularly interspaced short palindromic repeats (CRISPR)-associated enzyme Cas9 is an RNA-guided endonuclease that uses RNA-DNA base-pairing to target foreign DNA in bacteria. Cas9-guide RNA complexes are also effective genome engineering agents in animals and plants. The […]