Nejat Mahdieh is an Associate Professor at the Rajaie Hospital, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences. With a career spanning over two decades, Dr. Mahdieh has made significant contributions to the field of medical genetics, focusing on genetic disorders and their molecular mechanisms. She is a prolific author and an active member of several professional organizations and editorial boards.
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Dr. Mahdieh has published 114 papers indexed in Scopus, with an H-index of 21. She has been the first author on 30 of these papers and the corresponding author on 38, highlighting her leadership and expertise in her research endeavors.
Education
- 2016 – Present: Associate Professor, Rajaie Hospital, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences.
- 2012 – 2016: Assistant Professor, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
- 2011 – 2012: Postdoctoral Fellowship, Division of Human Genetics, National Institute of Genetics, Mishima, Shizuoka, Japan.
- 2006 – 2010: PhD in Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
- 2001 – 2004: M.Sc in Human Genetics, Genetic Research Center, University of Welfare and Rehabilitation Sciences, Tehran, Iran.
- 1997 – 2001: B.Sc in Biology, Department of Biology, Faculty of Sciences, University of Razi, Kermanshah, Iran.
Research Focus
Dr. Mahdieh’s research primarily focuses on the genetic basis of various diseases, including congenital heart disease, early-onset hereditary ataxia, and other genetic disorders. She has a keen interest in mutation detection, molecular genetics, and the development of diagnostic algorithms for genetic diseases.
Professional Journey
Dr. Mahdieh began her professional journey as an Assistant Professor at Ilam University of Medical Sciences. She then moved to a postdoctoral fellowship at the National Institute of Genetics in Japan. Since 2016, she has been serving as an Associate Professor at Rajaie Cardiovascular Medical and Research Center. Additionally, she has held roles such as the Director of the Medical Genetics Laboratory and Head of Hospital Laboratories at Rajaie Hospital.
Honors & Awards
Dr. Mahdieh has received several honors throughout her career, including being recognized as the third top student in both her M.Sc and B.Sc programs. Her contributions to the field have been widely acknowledged by her peers and professional organizations.
Publications Noted & Contributions
Dr. Mahdieh has contributed to several high-impact publications and books. Notable papers include studies on the genetic basis of early-onset hereditary ataxia and the role of genetic variants in hypertriglyceridemia. She has also authored and contributed to various books, including chapters on cardiovascular genetics and comprehensive reviews on genetics and biochemistry.
Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants
- Journal: International Journal of Genomics
- Date: 2024-05-30
- DOI: 10.1155/2024/6653857
- Summary: This study investigates the genetic basis of hypertriglyceridemia due to APOC2 mutations, emphasizing the significant role of nonsense and frameshift variants. It highlights how these genetic abnormalities lead to pancreatitis.
The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population
- Journal: Genetic Testing and Molecular Biomarkers
- Date: 2024-04-01
- DOI: 10.1089/gtmb.2023.0272
- Summary: This research examines the correlation between specific gene variants in the 5-Hydroxytryptamine Receptor 2A and the incidence of obstructive sleep apnea in an Iranian Kurdish population.
COLQ-related Congenital Myasthenic Syndrome: An Integrative View
- Journal: Neurogenetics
- Date: 2023-05-25
- DOI: 10.1007/s10048-023-00719-7
- Summary: This article provides a comprehensive overview of congenital myasthenic syndrome related to COLQ gene mutations, discussing clinical features, diagnostic approaches, and potential treatments.
High Prevalence of blaOXA-48 and blaNDM-Producing Carbapenem-Resistant Klebsiella pneumoniae Isolated from Clinical Samples in Shahid Rajaei Hospital in Tehran, Iran
- Journal: Jundishapur Journal of Microbiology
- Date: 2022-12-26
- DOI: 10.5812/jjm-130804
- Summary: This study reports a high prevalence of carbapenem-resistant Klebsiella pneumoniae in a Tehran hospital, identifying the presence of blaOXA-48 and blaNDM genes which confer resistance.
A Novel Homozygous Missense Variant in the NAXE Gene in an Iranian Family with Progressive Encephalopathy with Brain Edema and Leukoencephalopathy
- Journal: Acta Neurologica Belgica
- Date: 2022-10
- DOI: 10.1007/s13760-021-01717-y
- Summary: This case study details the discovery of a new missense variant in the NAXE gene, associated with severe progressive encephalopathy, brain edema, and leukoencephalopathy in an Iranian family.
Research Timeline
- 2020: Designed genetic diagnostic algorithms for dyslipidemia in Iran and studied mutation frequencies in leukodystrophies.
- 2019: Conducted genotype-phenotype correlation studies for MLD and CF patients.
- 2018: Modeled parotid gland complication probabilities following radiotherapy using machine learning.
- 2017: Evaluated and modeled radiotherapy-induced myocardial perfusion defects in breast cancer patients.
- 2016: Studied genetic aspects of congenital heart disease in the Iranian population.
- 2011 – 2012: Developed a database for human genomic variants at the National Institute of Genetics in Japan.
- 2009 – 2011: Conducted molecular studies on nonsyndromic hearing loss.
- 2004 – 2008: Worked on molecular diagnosis of congenital adrenal hyperplasia and cytogenetic analysis for chromosomal abnormalities.
Collaborations and Projects
Dr. Mahdieh has collaborated with numerous institutions, including Tehran University of Medical Sciences, Kawsar Institute of Human Genetics, and the University of Welfare and Rehabilitation Sciences. Her projects have ranged from setting up cytogenetic techniques to investigating genetic mutations in various populations. She has also been involved in community activities, such as organizing the Iranian Congress of Genetics Disorders and Disabilities and collaborating with various research centers.