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Topic Review
MECP2 Duplication Syndrome
MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability.
  • 654
  • 24 Dec 2020
Topic Review
Sudden Unexpected Death in Epilepsy
Epilepsy is a common neurological disorder associated with increased morbidity and mortality. Sudden unexpected death in epilepsy, also known as SUDEP, is the main cause of death in patients with epilepsy. SUDEP has an incidence of 1.2 per 1000 person-years in adults and 0.2 per 1000 person-years in children. 
  • 654
  • 02 Mar 2022
Topic Review
SLC2A10 Gene
solute carrier family 2 member 10
  • 654
  • 24 Dec 2020
Topic Review
MID1 Gene
midline 1
  • 653
  • 22 Dec 2020
Topic Review
Gastrointestinal Stromal Tumor
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine.
  • 653
  • 23 Dec 2020
Topic Review
MYO5A Gene
myosin VA
  • 652
  • 23 Dec 2020
Topic Review
Oculodentodigital Dysplasia
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital).
  • 651
  • 24 Dec 2020
Topic Review
Diversity Arrays Technology
Diversity Arrays Technology (DArT) is a high-throughput genetic marker technique that can detect allelic variations to provides comprehensive genome coverage without any DNA sequence information for genotyping and other genetic analysis. The general steps involve reducing the complexity of the genomic DNA with specific restriction enzymes, choosing diverse fragments to serve as representations for the parent genomes, amplify via polymerase chain reaction (PCR), insert fragments into a vector to be placed as probes within a microarray, then fluorescent targets from a reference sequence will be allowed to hybridize with probes and put through an imaging system. The objective is to identify and quantify various forms of DNA polymorphism within genomic DNA of sampled species. First reported in 2001 by Damian Jaccoud, Andrzej Kilian, David Feinstein, and Kaiman Peng, DArT prioritized significant advantages over other traditional primer-based methods like the ability to analyze large amounts of various samples from a low amount of initial DNA. It also afforded low costs and faster results compared to related solid state DNA arrays that detected Single Nucleotide Polymorphisms (SNPs). Since its inception, the technology has been a major instrument in the analysis of polyploid plants as well as in the construction of physical and genetic map to understand related on species based on similarities and allelic variances among their genomes.
  • 651
  • 14 Nov 2022
Topic Review
Transcobalamin Deficiency
Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body.
  • 650
  • 23 Dec 2020
Topic Review
Pharmacogenomics in Psoriasis Treatment
Pharmacogenomic studies allowed the reasons behind the different responses to treatments to be understood. Its clinical utility, in fact, is demonstrated by the reduction in adverse drug reaction incidence and the improvement of drug efficacy. Pharmacogenomics is an important tool that is able to improve the drug therapy of different disorders.
  • 650
  • 30 Sep 2021
Topic Review
PRKAG2 Gene
protein kinase AMP-activated non-catalytic subunit gamma 2
  • 650
  • 22 Dec 2020
Topic Review
MKRN3 Gene
makorin ring finger protein 3
  • 649
  • 22 Dec 2020
Topic Review
PROS1 Gene
protein S
  • 649
  • 22 Dec 2020
Topic Review
NCSTN Gene
nicastrin
  • 648
  • 23 Dec 2020
Topic Review
Kuskokwim Syndrome
Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints.
  • 648
  • 23 Dec 2020
Topic Review
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.
  • 647
  • 23 Dec 2020
Topic Review
ITPR1 Gene
Inositol 1,4,5-trisphosphate receptor type 1
  • 647
  • 23 Dec 2020
Topic Review
CYP1B1 Gene
Cytochrome P450 Family 1 Subfamily B Member 1
  • 647
  • 23 Dec 2020
Topic Review
KCNJ11 Gene
Potassium voltage-gated channel subfamily J member 11
  • 647
  • 23 Dec 2020
Topic Review
Non-Human Primate Models of Inherited Retinal Diseases
Given the significant shared similarities between Non-human primates (NHP) and humans, NHP Inherited retinal diseases (IRDs) models have the potential to provide insight into the pathogenic processes involved. In turn, this can significantly de-risk and accelerate the therapeutic development of gene therapy. Although models created using genetic methods can better recapitulate the pathogenesis of IRDs compared to laser and chemical methods, there are concerns of cost and efficacy. As improvements are made to current genetic editing technology, especially in terms of editing efficiency and reducing off-target editing, it is likely that more NHP IRD models will emerge over the subsequent years.
  • 646
  • 01 Mar 2022
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