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About the Society

The Egyptian Journal of Medical Human Genetics is the official journal of the Egyptian Society of Human Genetics. The society aims to target the advancing field of human genetics through education and training courses, allowing researchers to explore its full aspects.

About the Editor

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Professor Rabah Shawky - MD

Professor Shawky is a lecturer of Pediatrics and Genetics and has held the position as Head of the Pediatrics department since 2017. Prof. Shawky’s role extends to being the Head of Genetics Centre for the past 8 years at Ain Shams University, Egypt.

She pioneered the construction of the first Molecular Diagnostic Laboratory in the Genetics department and the first clinic for the early intervention program. In her various roles as an academician and a geneticist, Prof. Shawky is the Chief Editor of the Egyptian Journal of Human Medical Genetics and the reviewer for many international journals. Her role continues to expand as a consultant in the National Neonatal Screening Program in Egypt and has guided scientific research projects from centers such as the Academy of Science and Technology in Egypt.

Prof. Shawky has published more than 125 publications, varying from international peer-reviewed journals to authoring a chapter on genetics the Pediatrics book for undergraduate students in Ain-Shams University.

In addition to being on the board of several committees related to Pediatrics and Genetics in Egypt, Prof. Shawky is also the President of the Egyptian Society of Human Genetics, Egyptian Society of Friends of Families of Genetic Diseases and Egyptian Scientific Society of Human Teratology. She was elected as a member of the GAGS Advisory Committee in Dubai 2018. She was granted the annual Evaluative prize of Ain-Shams University for Medical Science in 2013 and awarded as a Distinctive Arab Female Geneticist in Bahrain, 2009. She completed teaching and examination activities in Genetics and has held the role of Chairperson and Speaker in many international conferences. In addition, Prof. Shawky is titled as the President of many research projects.

Aims and scope

Egyptian Journal of Medical Human Genetics (EJMHG) is an open access, peer-reviewed journal with a focus on reporting innovations within the field of human and medical genetics. The journal considers articles on all aspects of the genetic basis of human disease, with a particular emphasis on biochemical genetics, biological studies of enzymes and other protein deficiencies, as well as immunogenetics. Other topics of interest include investigations of the pathogenesis of inherited disorders and practical advances in the molecular diagnosis of human disease. Articles presenting clinical applications of genomics and next generation sequencing technologies are considered valuable contributions.

Egyptian Journal of Medical Human Genetics welcomes submissions of editorials, research, reviews, case reports, correspondence, meta-analysis and commentaries.

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