ISSN: 1658-807X Prof. Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG
Professor, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.
Chairman of Genetics and Precision Medicine department(GPM), King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia
Deputy Executive Director of King Abdullah International Medical Research Centre (KAIMRC), Riyadh Saudi Arabia
Prof. Majid Alfadhel has more than 150 publications in high impact factors journals (including New England Journal of Medicine). He is author of 3 books
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Mission Statement
The Journal of Biochemical and Clinical Genetics is a medical publication dedicated to the study of clinical and biochemical aspects of human genetic disorders including: inborn errors of metabolism dysmorphology, neurogenetics, cytogenetics, genetics syndromes, newborn screening, carriers detection, epidemiology of genetic disorders, pharmacogenetics, cancer genetics, behavioral genetics, community genetics, screening of monogenic and polygenic disorders, fetal pathology, prenatal and pre-implantation genetic diagnosis and genetic counseling as well as advances in prevention and treatment of genetic disorders. The journal highlights fundamental investigations of the pathogenesis of inherited disorders and practical advances in the molecular diagnosis of human disease. Clinical application of genomics and next generation sequencing technologies are considered valuable contributions.
Aims and Scope
The Journal of Biochemical and Clinical Genetics (JBCGenetics) aims to provide continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as phenotype analysis within the current context of genotype/phenotype correlations.
As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas:
The journal will also report on animal models of human genetic disorders, ethical, legal and social issues, fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, and studies of twins and twinning. The Journal focuses on the themes surrounding careful phenotype analysis by emphasizing meticulous documentation of phenotype and natural history of conditions. In addition to research articles, regular features of the journal include clinical reports, editorials, rapid publications, and letters to the editor.
Sphingosine Phosphate Lyase Insufficiency Syndrome SPLIS is a recently described condition, which is associated with loss of function mutations in SGPL1, encoding sphingosine-1-phosphate lyase. In 2017, several groups reported this novel childhood syndrome that featured a wide range of presentations including fetal hydrops, steroid-resistant nephrotic syndrome (SRNS), primary adrenal insufficiency (PAI), rapid or insidious neurological deterioration, immunodeficiency, acanthosis and endocrine abnormalities. A 7-year-old boy presented with primary adrenal insufficiency on hydrocortisone following pediatrics endocrinology at our hospital. Genetic testing identified a homozygous variant of sphingosine-1-phosphate lyase 1 (NM 003901: exon8: c.665G>A: p.R222Q). At the same time, he was found to have nephrotic syndrome, and renal function rapidly deteriorated. Biopsy of the right kidney showed focal segmental glomerulosclerosis with collapsing features and acute interstitial nephritis. Later, he received a living- related renal transplant. He is doing well after the transplant. Patients with primary adrenal insufficiency should be carefully followed to develop nephrotic syndrome features, and molecular testing is the key to the diagnosis of the underlying etiology. This is the first reported case with sphingosine-1-phosphate lyase 1 that underwent renal transplantation in our region.
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