OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
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Rapid publication: manuscripts are undertaken in 15.0 days from acceptance to publication (median values for papers published in this journal in the second half of 2021, 1-2 days of FREE language polishing time is also included in this period).
Newborn Screening and Inherited Metabolic Disorders
Submission Deadline: February 28, 2023 (Open) Submit Now
Shibani Kanungo, MD, MPH, FAAP, FACMG, Associate Professsor
Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, Michigan, United States.
Research Interests: Inborn Errors of Metabolism, Newborn Screening, Genetics, Ethics
Miao He, PhD
Co-Director of Metabolic and Advanced Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Research interests: Glycomic Biomarkers; Inherited Metabolic Diseases; Genetic Disorders; Sterols; Overproliferative Inflammatory Skin Disorders
Georgianne Arnold, MD, Professor of Pediatrics
Director, Medical Genetics Clinical Research, Department of Pediatrics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, USA
About the topic:
Newborn Screening, historically initiated more than 60 years old in the United States, has played a vital role in metabolic disorders all over the world. A public health initiative that helped identify a single metabolic disorder, Phenylketonuria (PKU), has now emerged into the most successful public health program now detecting more than 50 conditions. And, includes amino acid disorders, organic acid disorders, fatty acid oxidation disorders, galactose metabolism disorders, biotin metabolism disorder, lysosomal storage disorder, mucopolysaccharidoses, and peroxisomal disorders. Newborn Screening helps diagnose potentially debilitating and even lethal metabolic conditions before any clinical symptom presentations in newborns, as well as in mothers and other members of a family. Prenatal testing options have an equally vital role in diagnosis and management. Newborn Screening has crossed known geographic and political boundaries and is adapted by many countries in all continents. As a result, our understanding of various metabolic disorders’ clinical presentations, treatment approaches and outcomes has evolved. NBS has helped advance molecular technologies in diagnostic approaches as well helped advance innovative treatment approaches like orthotopic liver transplantation, enzyme replacement therapy, hematopoietic stem cell transplantation and gene therapy. Newborn Screening has also emerged as an integrative endeavor between engineering, basic sciences, genetics, clinical medicine, nutritional sciences, pharmaceuticals, public health, public policy, ethics and law.
Received: 20 July 2022; Published: 26 September 2022; doi: 10.21926/obm.genet.2203165
Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 18.104.22.168). Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurolo [...]
Received: 04 May 2022; Published: 02 August 2022; doi: 10.21926/obm.genet.2203161
Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for different types of galactosemia are described [...]
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