• Ph.D. (2009)

    Human Genetics

    , Berlin, Germany

  • M.Sc. (2003)

    Human Genetics

    , University of Social Welfare and Rehabilitation Sciences Tehran / Medical Scienc, Iran

  • B.Sc. (2001)

    Biology - Animal Sciences

    , Mashhad Ferdowsi University,

  • Gene mapping
  • The molecular basis of genetic diseases

    Dr. Masoud Garshasbi received his B.Sc. in Biology from the Ferdowsi University Mashhad, Iran (2001), and his M.Sc. in Human Genetics from the University of Social Welfare and Rehabilitation (USWR), Tehran, Iran (2003). He obtained his Ph.D. (2009) and Post doctoral (2011) in Human Molecular Genetics from Max Planck Institute for Molecular Genetics (MPIMG), Berlin, Germany by working on the genes involved in Intellectual Disability (ID). The outcome of his research was finding several novel genes for some of the inherited disorders. At 2011 he came back to Iran and since then he has been successfully active in both academia and private section. He is now associate professor of human genetics at the Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. He is founder and head of Medical Genetic Department at the DeNA laboratory, Tehran, Iran. He has also established the Medical Genetics department at the laboratory of Pars hospital, Tehran, Iran (2011-2013). He has published so far more than 50 research papers in peer review high ranking international journals (h-index:22). His main area of research is gene mapping and finding the mechanism behind the genetic disorders. He is a member of Iranian National Elites Foundation (INEF). In 2015 he has been chosen among the first 50 distinguished Iranian researchers by the Iran Saramadane Elmi Federation (ISEF). He was a board member and also secretary of Iranian Society of Medical Genetics (ISMG) from 2014 to 2018.


    Curriculum Vitae (CV)

    Complex III Mitochondrial Leukoencephalopathy Masquerading Acute Demyelinating Syndrome Due to a Novel Variant in CYC1

    Erfan Heidari, Maryam Rasoulinezhad, Neda Pak, Mahmoud Reza Ashrafi, Morteza Heidari, Brenda Banwell, Masoud Garshasbi, Ali Reza Tavasoli
    Journal Paper , 2021 February 23, {Pages }


    BackgroundComplex III (CIII) is the third out of ve mitochondrial respiratory chain complexes residing at the mitochondrial inner membrane. The assembly of 10 subunits encoded by nuclear DNA and one by mitochondrial DNA result in the functional CIII which transfers electrons from ubiquinol to cytochrome c. De ciencies of CIII are among the least investigated mitochondrial disorders and thus clinical spectrum of patients with mutations in CIII is not well de ned.

    Kabuki Syndrome: Identification of Two Novel Variants in KMT2Dand KDM6A

    Mehrnoosh Khodaeian, Ehsan Jafarinia, Fatemeh Bitarafan, Shohreh Shafeii, Navid Almadani, Mohammad Ali Daneshmand, Masoud Garshasbi
    Journal PaperMolecular Syndromology , 2021 February 17, {Pages 09-Jan }


    Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Studies show that most of the KS cases are caused by mutations or large deletions in the KMT2D gene, while the other cases show mutations in KDM6A. We studied 2 patients with suspected KS in 2 unrelated families by whole-exome sequencing to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants and check the segregation in other members of the families. Finally, the potential effects of the variants on the structure and function of respective proteins were tested using i

    The oncogenic and tumor suppressive roles of RNA‐binding proteins in human cancers

    Amirreza Bitaraf, Ehsan Razmara, Babak Bakhshinejad, Hassan Yousefi, Mousa Vatanmakanian, Masoud Garshasbi, William C Cho, Sadegh Babashah
    Journal Paper , 2021 February 8, {Pages }


    Posttranscriptional regulation is a mechanism for the cells to control gene regulation at the RNA level. In this process, RNA‐binding proteins (RBPs) play central roles and orchestrate the function of RNA molecules in multiple steps. Accumulating evidence has shown that the aberrant regulation of RBPs makes ?contributions?to the initiation and progression of tumorigenesis via numerous mechanisms such as genetic changes, epigenetic alterations, and noncoding RNA‐mediated regulations. In this article, we review the effects caused by RBPs and their functional diversity in the malignant transformation of cancer cells that occurs through the involvement of these proteins in various stages of RNA regulation including alternative splicing, st

    Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum

    Erfan Heidari, Alexander N Harrison, Ehsan Jafarinia, Ali Reza Tavasoli, Navid Almadani, Robert S Molday, Masoud Garshasbi
    Journal PaperHuman Mutation , 2021 February 10, {Pages }


    ATP8A2 is a P4‐ATPase that flips phosphatidylserine across membranes to generate and maintain transmembrane phospholipid asymmetry. Loss‐of‐function variants cause severe neurodegenerative and developmental disorders. We have identified three ATP8A2 variants in unrelated Iranian families that cause intellectual disability, dystonia, below‐average head circumference, mild optic atrophy, and developmental delay. Additionally, all the affected individuals displayed tooth abnormalities associated with defects in teeth development. Two variants (p.Asp825His and p.Met438Val) reside in critical functional domains of ATP8A2. These variants express at very low levels and lack ATPase activity. Inhibitor studies indicate that these variants a

    A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase

    Maryam Razzaghy-Azar, Mitra Nourbakhsh, Mehdi Vafadar, Mona Nourbakhsh, Saeed Talebi, Ali Sharifi-Zarchi, Elham Salehi Siavashani, Masoud Garshasbi
    Journal PaperClinical Biochemistry , 2021 February 2, {Pages }


    BackgroundA small amount of methanol is produced endogenously in the human body but it is efficiently metabolized by alcohol dehydrogenase (ADH) and other enzymes, and the products eliminated without harm. In this study, we present a new entity of inborn error of methanol metabolism due to a mutation in the ADH1C gene coding for the γ subunit that is part of several ADH isoenzymes.ResultsThis disorder was discovered in an 11.58-year-old boy. During one 9-month hospital admission, he had periods of 1–4?days during which he was comatose, and between these periods he was sometimes verbose and euphoric, and had ataxia, dysarthria. Following hemodialysis treatments, he became conscious and appeared healthy. Organ evaluations and his laborator

    A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses

    Naser Gilani, Ehsan Razmara, Mehmet Ozaslan, Ihsan Kareem Abdulzahra, Saeid Arzhang, Ali Reza Tavasoli, Masoud Garshasbi
    Journal PaperActa Neurologica Belgica , 2021 March 30, {Pages 12-Jan }


    Mutations in CLN3 (OMIM: 607042) are associated with juvenile neuronal ceroid lipofuscinoses (JNCL)—a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration. The study aimed to determine the underlying genetic factors justifying the NCL phenotype in a large Iraqi consanguineous family. Four affected individuals with an initial diagnosis of NCL were recruited. By doing neuroimaging and also pertinent clinical examinations, eg fundus examination, due to heterogeneity of neurodevelopmental disorders, the proband was subjected to the paired-end whole-exome sequencing to identify underlying genetic factors. The candidate variant was also confirmed by Sanger sequencing. Various in silico predicti

    A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy

    Fardin Soleimanipour, Ehsan Razmara, Fatemeh Rahbarizadeh, Elnaz Fallahi, Mehrnoosh Khodaeian, Ali Reza Tavasoli, Masoud Garshasbi
    Journal PaperActa Neurologica Belgica , 2021 March 30, {Pages 09-Jan }


    Progressive myoclonus epilepsies (PMEs) are a group of disorders embracing myoclonus, seizures, and neurological dysfunctions. Because of the genetic and clinical heterogeneity, a large proportion of PMEs cases have remained molecularly undiagnosed. The present study aimed to determine the underlying genetic factors that contribute to the PME phenotype in an Iranian female patient. We describe a consanguineous Iranian family with autosomal recessive PME that had remained undiagnosed despite extensive genetic and pathological tests. After performing neuroimaging and clinical examinations, due to heterogeneity of PMEs, the proband was subjected to paired-end whole-exome sequencing and the candidate variant was confirmed by Sanger sequencing.

    Crystallographic Modeling of the PNPT1: c. 1453A> G Variant as a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical?…

    Ali Hosseini Bereshneh, Zahra Rezaei, Ehsan Jafarinia, Fatemeh Rajabi, Mahmoud Reza Ashrafi, Ali Reza Tavasoli, Masoud Garshasbi
    Journal PaperMitochondrion , 2021 April 1, {Pages }


    Deficiency of the proteins involved in oxidative phosphorylation (OXPHOS) can lead to mitochondrial dysfunction. Polyribonucleotide nucleotidyltransferase 1 (PNPT1) is one of the genes involved in the OXPHOS and encodes the mitochondrial polynucleotide phosphorylase (PNPase) which is implicated in RNA-processing exoribonuclease activity. Herein, we report a 34-month-old boy who presented with global developmental delay, muscular hypotonia, hearing impairment, and movement disorders including chorea and dystonia. Mitochondrial genome sequencing and whole-exome sequencing (WES) were performed and a variant in PNPT1:c.1453A>G; p. (Met485Val) was identified. A number of patient’s neurologic problems had been already reported in previous studi

    Novel Imaging and Clinical Manifestations of Ndmsba Disorder Caused by a Homozygous Missense Variant of Plaa

    Ali Dehghani, Ehsan Razmara, Maryam Rasoulinezhad, Fatemeh Bitarafan, Ali Reza Tavasoli, Masoud Garshasbi
    Journal Paper , 2021 April 13, {Pages }


    BackgroundPhospholipase A-2-activating protein (PLAP) has essential roles in biological pathways. Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is a complex neurodevelopmental disease caused by defects in the PLAA gene (MIM: 603873). Herein, we aimed to detect the potential genetic factors contributing to the NDMSBA phenotype in a 2.5-year-old affected male in an Iranian consanguineous family.

    Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

    Raziyeh Khalesi, Ehsan Razmara, Golareh Asgaritarghi, Ali Reza Tavasoli, Yasser Riazalhosseini, Daniel Auld, Masoud Garshasbi
    Journal PaperBMC neurology , Volume 21 , Issue 1, 2021 December , {Pages 13-Jan }


    The present study aimed to determine the underlying genetic factors causing the possible Warburg micro syndrome (WARBM) phenotype in two Iranian patients. A 5-year-old female and a 4.5-year-old male were referred due to microcephaly, global developmental delay, and dysmorphic features. After doing neuroimaging and clinical examinations, due to the heterogeneity of neurodevelopmental disorders, we subjected 7 family members to whole-exome sequencing. Three candidate variants were confirmed by Sanger sequencing and allele frequency of each variant was also determined in 300 healthy ethnically matched people using the tetra-primer amplification refractory mutation system-PCR and PCR-restriction fragment length polymorphism. To show the splicin

    Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

    P Mohammadi, E Salehi Siavashani, MF Mohammadi, A Bahramy, ...
    Journal Paper , , {Pages }


    Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12 076 Iranian Women

    F Bitarafan, MR Hekmat, M Khodaeian, E Razmara, T Ashrafganjoei, ...
    Journal Paper , , {Pages }


    Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies In A Consanguineous Iranian Family Is Associated With A Novel Homozygous Start Loss …

    MA Gholizadeh, M Mohammadi-Sarband, F Fardanesh, M Garshasbi
    Journal Paper , , {Pages }


    Non Syndromic-Early Onset Epileptic Encephalopathies: Two novel KCTD7 pathogenic variants and a literature review

    S Binaafar, M Garshasbi, AR Tavasoli, RS Badv, SMM Hosseiny, ...
    Journal Paper , , {Pages }


    Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathy

    E Heidari, M Rasoulinezhad, N Pak, MR Ashrafi, M Heidari, B Banwell, ...
    Journal Paper , , {Pages }


    Crystallographic modeling of the PNPT1: c. 1453A> G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical …

    AH Bereshneh, Z Rezaei, E Jafarinia, F Rajabi, MR Ashrafi, AR Tavasoli, ...
    Journal Paper , , {Pages }


    A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy

    P Mohammadi, M Heidari, MR Ashrafi, N Mahdieh, M Garshasbi
    Journal Paper , , {Pages }


    Biomarker discovery by imperialist competitive algorithm in mass spectrometry data for ovarian cancer prediction

    S Pirhadi, K Maghooli, NY Moteghaed, M Garshasbi, SJ Mousavirad
    Journal Paper , , {Pages }


    ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel Variants

    AZ Dehnavi, E Heidari, M Rasulinezhad, M Heidari, MR Ashrafi, ...
    Journal Paper , , {Pages }


    Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS

    Masoud Garshasbi, Mahdi Mahmoudi, Ehsan Razmara, Mahdi Vojdanian, Saeed Aslani, Elham Farhadi, Lars Riff Jensen, Seyed Masoud Arzaghi, Shiva Poursani, Amirreza Bitaraf, Milad Eidi, Elika Esmaeilzadeh Gharehdaghi, Andreas Walter Kuss, Ahmadreza Jamshidi
    Journal PaperEuropean Journal of Human Genetics , 2020 January 30, {Pages 09-Jan }


    Ankylosing spondylitis (AS) is a common complex inflammatory disease; however, up to now distinct genes with monogenic pattern have not been reported for this disease. In the present study, we report a large Iranian family with several affected members with AS. DNAs of the three affected and two healthy cases were chosen for performing whole-exome sequencing (WES). After several filtering steps, candidate variants in the following genes were detected: RELN, DNMT1, TAF4β, MUC16, DLG2, and FAM208. However, segregation analysis confirmed the association of only one variant, c. 7456A> G; p.(Ser2486Gly) in the RELN gene with AS in this family. In addition, in silico predictions supported the probable pathogenicity of this variant. In this study

    Current Teaching

      Data not found

    Teaching History

    • Ph.D.

      Advanced Molecular Genetics

    • MS.c.

      Family and Social Epidemiology

    • Ph.D.

      Medical bioinformatics

    • 2016
      Eidi, Milad
      Genetic study of Mental-Physical Inability in an Iranian Family by Whole Exome Sequencing, And feasibility of providing a visual and user-friendly software to quality control steps of FASTQ file
    • 2017
      Jafarinia, Ehsan
    • 2018
      Soleymanipour, Fardin
    • 2018
      Mardani mal amiri, Saba
    • 2016
      Mohamadian, Somaye
      Genetic assessment of Iranian families with inherited retinal dystrophyusing whole exome sequencing
    • 2018
      Mohammadi, Pouria



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