Table of Content

Open Access Research Article

The Complete Chloroplast Genome Sequence of Actinidia arguta var. purpurea

Received: 16 October 2023;  Published: 24 November 2023;  doi: 10.21926/obm.genet.2304203


In this study, we report the complete chloroplast genome of Actinidia arguta var. purpurea. The chloroplast genome is 157,369 bp long as the circular (GC ratio is 37.22%). It has four subregions: a large single-copy (LSC) region of 88,609 bp, a small single-copy (SSC) region of 20,470 bp, and two inverted repeat regions (IRs) of 24,145 bp in each. The chloroplast genome of A. arguta var. purpurea contains a total of 113 unique genes, which are 79 protein-coding genes, 4 rRNA genes, and 30 tRNA genes. The phylogenet [...]

56 331

Open Access Case Report

Progressive Pseudo-Rheumatoid Dysplasia a Rare Genetic Musculoskeletal Condition Causing Crippling Disability in a Young Boy- a Case Report

Received: 05 July 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304202


Progressive pseudo-rheumatoid dysplasia (PPRD) is an uncommon genetic condition inherited in an autosomal recessive mode caused by a mutation in the WNT1-inducible signaling pathway protein 3 (WISP3) located on chromosome 6q21. In this condition, the articular cartilage gradually deteriorates, causing severe discomfort, stiffness, and joint deformities with a relatively high prevalence in Middle Eastern countries. Camptodactyly and platyspondyly are the standard features found in this condition. We present a very y [...]

60 644

Open Access Concept Paper

Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices

Received: 21 March 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304201


The personal experience of 36 years in charge of the Newborn Screening Laboratory in Galicia and the consequences of the recent advancement of sampling from 3 days to 24 hours of the newborn's life are reviewed. The implication in the results of the assay of reducers in urine with the Mandelin reagent and its alternatives is commented. The implication in the effects of TSH in blood and the possible ways of dealing with the situation. Since 1978, the Newborn Screening Program in Galicia has maintained the urine samp [...]

72 584

Open Access Original Research

Somaclonal Variation in Callus Cultures of Rose Periwinkle, Catharanthus Roseus L. Under Induced Salt and Osmotic Stresses

Received: 29 July 2023;  Published: 26 October 2023;  doi: 10.21926/obm.genet.2304200


The experiment was carried out at the laboratories of the National Commission for Biotechnology in Syria during the period 2020-2022 to detect the somaclonal genetic variation occurring in callus cultures at different ages and to compare them with the In vitro growing plants and introduced species of Rose Periwinkle that grew up in the Syrian environment, in addition, exploring the effect of abiotic stresses in causing genetic variations in callus, by the Inter Simple Sequence Repeats technique (ISSR) using 21 prim [...]

88 754

Open Access Original Research

Examining the Relationship between Attitudes Towards Genomic Technology and Genetic Entrepreneurial Intention among Egyptian Healthcare Professionals

Received: 24 September 2023;  Published: 24 October 2023;  doi: 10.21926/obm.genet.2304199


In the contemporary landscape, nurturing genomic entrepreneurial attitudes and intentions poses a substantial challenge for healthcare organizations. The present paper examines the factors affecting attitudes towards genomic technology and entrepreneurial intentions among Egyptian healthcare professionals. The study applied a quantitative approach and collected cross-sectional data from 276 health professionals using convenience sampling. Using structural equation modeling (SEM) through SmartPLS 4, the findings sug [...]

95 888

Open Access Review

Mutation Breeding in Horticultural Plant Species

Received: 27 July 2023;  Published: 19 October 2023;  doi: 10.21926/obm.genet.2304198


In the face of rapid population growth worldwide, humanity's need for plant and animal products is increasing. In this regard, the organizations in charge of production make production and consumption forecasts for the future and try to accelerate the work aimed at increasing production. There are various ways of increasing production. The first of these is the improvement of cultivation techniques, the expansion of irrigated agricultural areas, and the effective control of diseases and pests. The second is to find [...]

105 1048

Open Access Review

Newborn Screening for Inborn Errors of Metabolism

Received: 14 June 2023;  Published: 18 October 2023;  doi: 10.21926/obm.genet.2304197


Newborn screening can now detect more than 50 disorders, providing early and often life-saving treatment. Inborn errors of metabolism account for the majority of these disorders. This review will consider the more common metabolic disorders identified on newborn screening, including history, technique and management of these disorders.

84 974

Open Access Review

Role of Metabolic Nutrition in Newborn Screening and Inherited Metabolic Disorders

Received: 29 June 2023;  Published: 10 October 2023;  doi: 10.21926/obm.genet.2304196


The expansion of newborn screening (NBS) encompasses a wide range of inherited metabolic disorders, including disorders of carbohydrate, lipid, and protein metabolism. Effective treatment of these disorders requires comprehensive nutrition and medical management. This review highlights the intricacies of medical nutrition therapy for several common metabolic disorders and underscores the crucial role of metabolic dietitians in managing these patients.

109 837

Open Access Review

Whole Genome Sequencing in Era of Newborn Screening

Received: 20 April 2023;  Published: 05 October 2023;  doi: 10.21926/obm.genet.2304195


After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining challenge [...]

136 994

Open Access Review

Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers

Received: 14 June 2023;  Published: 25 September 2023;  doi: 10.21926/obm.genet.2303194


Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn screening panels, includi [...]

129 1731