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:

  1. Biochemical Genetics: inborn errors of metabolism (IEM), newborn screening, carrier detection, mitochondrial disorders, laboratory aspects of IEM and medications used in the treatment of IEM.
  2. Clinical Genetics: descriptions of new syndromes, novel genes,  new causal and pathogenetic insights into known syndromes, advances in genetic counseling, nosology, anthropometry, and anthropology, including dermatoglyphics.
  3. Clinical Molecular Genetics: homozygosity mapping, next generation sequencing including whole exome sequencing (WES) and  whole genome sequencing (WGS).
  4. Formal Genetics: quantitative, population, and epidemiological genetics;
  5. Molecular Cytogenetics: delineation of syndromes due to chromosomal aberration.
  6. Neurogenetics: reports on novel research on the genetic mechanisms underlying neurological disorders.
  7. Reproductive Genetics: prenatal diagnosis and the genetics of prenatal and perinatal death, birth defects, preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD).
  8. Cancer Genetics and Cancer Cytogenetics: experimental and molecular approaches.
  9. Personalized Genomics: treatment structures and medicinal decisions based on a patient's predicted response or risk of disease.

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.

« Previous Issue

JBCGenetics. Year: 2021, Volume: 4

    Original Research (Original Article)

  1. Epidermal growth factor receptor and STAT3 signal through KRAS have mutually opposite effects on CTEN
    Saleh AlGhamdi, Salih Ibrahim, Kanwal Balloch, Darryl Jackson, Mohammad Ilyas
    JBCGenetics. 2021; 4(1): 1-13
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1594626414

  2. Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis
    Osama Sayed Daif Allah, Alshimaa Hafez Abdelall, Madeha Mahrous Zakhary, Nagwa S. Ahmed, Asmaa Mohamed Goda
    JBCGenetics. 2021; 4(1): 14-21
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1598435875

  3. Knowledge and attitudes regarding etiology and genetic counseling among Saudi children with primary congenital glaucoma
    Abdulwahab AlThib, Rajiv Khandekar, Deepak Edward
    JBCGenetics. 2021; 4(1): 22-26
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1599478278

  4. Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1601264923

  5. Do we know properly young age breast cancer patients: a double centre study
    Hale Onder Yilmaz, Halil Tadkaynatan, Mustafa Gokoglu, Orkun Yilmaz, Gokmen Aktas
    JBCGenetics. 2021; 4(1): 35-41
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1606168933

  6. Review Article

  7. The association between IVF and chromosomal abnormalities compared to spontaneous conception
    Sawsan Alharthi, Lama Alrasheed, Ghada Alrashed, Ghaida Almutairi, Marwan Nashabat, Majid Alfadhel
    JBCGenetics. 2021; 4(1): 42-47
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1597317668

  8. Case Report

  9. A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome
    Lamya Ahmad Faisal Alrayes, Mohammed Alotaibi, Afaf Alsagheir
    JBCGenetics. 2021; 4(1): 48-50
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1606918375

  10. A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population
    Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi
    JBCGenetics. 2021; 4(1): 51-55
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1603099467

  11. Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family
    Aisha M. AlShamsi, Qudsia R. Shaukat, Mohammed H. AlKuwaiti
    JBCGenetics. 2021; 4(1): 56-63
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1602852756

  12. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation
    Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi
    JBCGenetics. 2021; 4(1): 64-67
    » Abstract » PDF» doi: 10.24911/JBCGenetics/183-1600718816