MARYAM REZAEIWELCOME TO MY WEBSITE
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ABOUT

PERSONAL DETAILS
8690 Paul Street, San fransico
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maryam.rezaei@mail.mcgill.ca
I am a geneticist, nature lover, traveller, volleyball and tennis enthusiast.

ABOUT ME

Being mesmerized by double stranded DNA structure in the biology book at high school and the moment I saw a white woven cloth as the DNA of onion made me to choose genetics as my main field to study DNA and chromosomes. In 2015, I ended up having a BSC and MSc degrees in Human Genetics at my home country Iran. In my MSc project, I was studying about the genetics of "Hydatidiform Mole pregnancy" or as my friend calls it "False pregnancy" in which there is NO baby in this pregnancy. Interesting?! Isn’t it? In one of the patients, I found the problem which was a very big deletion in one of the causative genes. I was curious about the cause of such a big deletion and after researching for a few months I found the answer, which was "DNA transposable elements". Being passionate to know more about this disease, I came to Canada. I was accepted at Human Genetics department of McGill University and since January 2017 I am looking for new causative genes for this disease by using next generation sequencing methods. In August 2019, I found 2 new genes and since then I am studying the pathophysiological mechanism of these false pregnancies by working on knocked out mouse models of both genes.

HOBBIES AND INTERESTS

  • Photography
  • Travelling
  • Tennis
  • Volleyball
  • Research
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RESUME

EDUCATION
  • 2017
    Present
    MONTREAL, CANADA

    HUMAN GENETICS - PHD Candidate

    McGILL UNIVERSITY

    Thesis title: Identification of new genes responsible for Recurrent Hydatidiform Moles using Whole Exome Sequencing and Targeted Sequencing techniques.

    Thesis Supervisor: Professor Rima Slim

    Summary: My PhD project focuses on identifying new genes which lead to the development of hydatidiform moles in humans. To date I have discovered three meiotic genes responsible for this phenotype. I am complementing this work with knock out mouse models to investigate the molecular roles of these genes and how their absence leads to the formation of Hydatidiform Moles.

  • 2011
    2014
    SHIRAZ, IRAN

    MASTER OF SCIENCE - HUMAN GENETICS

    SHIRAZ UNIVERSITY OF MEDICAL SCIENCE

    Thesis title: NLRP7 and KHDC3L gene analysis in two separate families with familial recurrent hydatidiform moles

    Thesis Supervisor: Professor Majid Fardaei

    Summary: This project focused on elucidating the mutations which lead to the formation of recurrent hydatidiform mole in two families. I was able to determine that in one family this was due to a 10-kb deletion in the NLRP7 gene due to the presence of ALU elements. I mapped these ALU elements in NLRP7 and found that >50% of the gene contains these repetitive elements. In the second family I discovered a 2-bp deletion in the KHDC3L gene. I similarly mapped the small repetitive elements in this gene.

  • 2007
    2011
    ARSENJAN, IRAN

    Bachelor of Science - Cellular and Molecular Biology - Genetics

    ISLAMIC AZAD UNIVERSITY

    I studied molecular genetics. I learnt some basic molecular genetics techniques. I took courses mostly about cellular molecular genetics.
ACADEMIC AND PROFESSIONAL POSITIONS
  • 2017
    Current
    MONTREAL, CANADA

    GRADUATE STUDENT RESEARCHER

    McGILL UNIVERSITY

    My research focuses on identifying genes and mechanisms responsible for female infertility, and recurrent miscarriages. In my research, I utilize next-generation sequencing methods, such as Whole Exome Sequencing.
  • 2011
    2017
    SHIRAZ, IRAN

    GRADUATE STUDENT RESEARCHER

    Shiraz University of Medical Sciences

    My research focuses on identifying mutations in two known genes responsible for recurrent molar pregnancies. This research resulted into 2 journal papers (one paper in "European Journal of Human Genetics", another paper in "Human Genome Variation").
HONORS AND AWARDS
  • 2019
    2019
    TORONTO

    Travel Award

    20th World Congress on Gestational Trophoblastic Diseases

    Amount of award is $1500.
  • 2017
    2017
    TORONTO

    Travel Award

    2017: Informatics on High-throughput Sequencing Data Workshop

    Amount of the award is $1000.
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PUBLICATIONS

PUBLICATIONS LIST
SORTING BY DATE
20 Oct 2019

Investigating the Novel Genes for Recurrent Hydatidiform Moles and facing the related Challenges

20th World Congress on Gestational Trophoblastic Diseases, Toronto, Canada. 


Conference Maryam Rezaei and Rima Slim

Investigating the Novel Genes for Recurrent Hydatidiform Moles and facing the related Challenges

Maryam Rezaei and Rima Slim
Conference
About The Publication

Invited Speech

 
19 May 2021

A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I

Journal of Medical Genetics


Journal Maryam Rezaei, Beena Suresh, Eric Bereke, Zahra Hadipour, Monica Aguinaga, Jianhua Qian, Rashmi Bagga, Majid Fardaei, Reda Hemida, Sujatha Jagadeesh, Jacek Majewski, Rima Slim

A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I

Maryam Rezaei, Beena Suresh, Eric Bereke, Zahra Hadipour, Monica Aguinaga, Jianhua Qian, Rashmi Bagga, Majid Fardaei, Reda Hemida, Sujatha Jagadeesh, Jacek Majewski, Rima Slim
Journal
About The Publication

Description

Recurrent miscarriage (RM) is defined by the occurrence of at least two pregnancy losses prior to 22 weeks of gestation and affects up to 5% of couples trying to conceive.1–3 RM has a significant emotional impact on couples and the repetitive nature intensifies the grief experienced. A recessive missense in cyclin B3 (CCNB3) has recently been shown in two sisters with RM and triploidy of maternal origin.4 Here, we report a novel recessive CCNB3 mutation, c.4091+1G>A, p.Val1321Glyfs*4, in a patient with 16 RM and show that one of her miscarriages is triploid digynic resulted from the failure of meiosis I.
14 Feb 2021

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure

Clinical Genetics Volume 99 Issue 6 Pages 823-828


Journal Maryam Rezaei, Beena Suresh, Eric Bereke, Zahra Hadipour, Monica Aguinaga, Jianhua Qian, Rashmi Bagga, Majid Fardaei, Reda Hemida, Sujatha Jagadeesh, Jacek Majewski, Rima Slim

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure

Maryam Rezaei, Beena Suresh, Eric Bereke, Zahra Hadipour, Monica Aguinaga, Jianhua Qian, Rashmi Bagga, Majid Fardaei, Reda Hemida, Sujatha Jagadeesh, Jacek Majewski, Rima Slim
Journal
About The Publication
Abstract Recurrent hydatidiform moles (RHMs) are human pregnancies with abnormal embryonic development and hyperproliferating trophoblast. Biallelic mutations in NLRP7 and KHDC3L, members of the subcortical maternal complex (SCMC), explain the etiology of RHMs in only 60% of patients. Here we report the identification of seven functional variants in a recessive state in three SCMC members, five in NLRP7, one in NLRP5, and one in PADI6. In NLRP5, we report the first patient with RHMs and biallelic mutations. In PADI6, the patient had four molar pregnancies, two of which had fetuses with various abnormalities including placental mesenchymal dysplasia and intra-uterine growth restriction, which are features of Beckwith-Wiedemann syndrome and Silver Russell syndrome, respectively. Our findings corroborate recent studies and highlight the common oocyte origin of all these conditions and the continuous spectrum of abnormalities associated with deficiencies in the SCMC genes
22 Mar 2021

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread

Journal of Assisted Reproduction and Genetics Pages 1-8


Journal Mónica Aguinaga, Maryam Rezaei , Irma Monroy, Nawel Mechtouf, Javier Pérez, Elsa Moreno, Yolotzin Valdespino, Carolina Galaz, Guadalupe Razo, Daniela Medina, Raúl Piña, Rima Slim

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread

Mónica Aguinaga, Maryam Rezaei , Irma Monroy, Nawel Mechtouf, Javier Pérez, Elsa Moreno, Yolotzin Valdespino, Carolina Galaz, Guadalupe Razo, Daniela Medina, Raúl Piña, Rima Slim
Journal
About The Publication

Abstract

Purpose

To investigate the frequency of a founder mutation in NLRP7, L750V, in independent cohorts of Mexican patients with recurrent hydatidiform moles (RHMs).

Methods

Mutation analysis was performed by Sanger sequencing on DNA from 44 unrelated Mexican patients with RHMs and seven molar tissues from seven additional unrelated patients.

Results

L750V was present in homozygous or heterozygous state in 37 (86%) patients and was transmitted on the same haplotype to patients from different states of Mexico. We also identified a second founder mutation, c.2810+2T>G in eight (18.1%) patients, and a novel premature stop-codon mutation W653*.

Conclusion

Our data confirm the strong founder effect for L750V, which appears to be the most common mutation in NLRP7. We also report on six healthy live births to five patients with biallelic NLRP7 mutations, two from spontaneous conceptions and four from donated ovum and discuss our recommendations for DNA testing and genetic counseling.
25 Apr 2018

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

European Journal of Human Genetics Volume 26 Issue 7 Pages 1007-1013


Journal JianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, Bo Huang, YongLing Tao, XiaoFei Zhang, Qi Cheng, HanJin Yang, Ao Asangla, Jacek Majewski, Rima Slim

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

JianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, Bo Huang, YongLing Tao, XiaoFei Zhang, Qi Cheng, HanJin Yang, Ao Asangla, Jacek Majewski, Rima Slim
Journal
About The Publication

Abstract

Recurrent hydatidiform moles (RHM) are aberrant human pregnancies characterized by absence of, or abnormal, embryonic development, hydropic degeneration of chorionic villi, and hyperproliferation of the trophoblast. Biallelic mutations in two maternal-effect genes, NLRP7 and KHDC3L, underlie the causation of RHM in 60% of patients. We performed exome sequencing on a patient with six pregnancy losses, two miscarriages and four HM, and found no variants that affect the functions of the known genes. We found biallelic missense variants that affect conserved amino acids in PADI6 and segregate with the disease phenotype in the family. PADI6 is another maternal-effect gene and a member of the subcortical maternal complex that has been shown to have recessive variants that affect the gene function in four unrelated women with infertility who also experienced early embryonic arrest during preimplantation development after IVF. We demonstrated that PADI6 co-localizes with NLRP7 in human oocytes and preimplantation embryos and reviewed the morphology and genotypes of four products of conception from our patient. Our data expand the involvement of PADI6 to other forms of reproductive loss and highlight the commonality between infertility, miscarriages, and molar pregnancies, in some cases.
01 Jul 2018

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Modern Pathology Volume 31, Issue 7, Pages 1116-1130


Journal Ngoc Minh Phuong Nguyen, Yassemine Khawajkie, Nawel Mechtouf, Maryam Rezaei, Magali Breguet, Elvira Kurvinen, Sujatha Jagadeesh, Asli Ece Solmaz, Monica Aguinaga, Reda Hemida, Mehmet Ibrahim Harma, Cécile Rittore, Kurosh Rahimi, Jocelyne Arseneau, Karine Hovanes, Ronald Clisham, Tiffanee Lenzi, Bonnie Scurry, Marie-Claude Addor, Rashmi Bagga, Genevieve Girardet Nendaz, Vildana Finci, Gemma Poke, Leslie Grimes, Nerine Gregersen, Kayla York, Pierre-Adrien Bolze, Chirag Patel, Hossein Mozdarani, Jacques Puechberty, Jessica Scotchie, Majid Fardaei, Muge Harma, RJ McKinlay Gardner, Trilochan Sahoo, Tracy Dudding-Byth, Radhika Srinivasan, Philippe Sauthier, Rima Slim

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Ngoc Minh Phuong Nguyen, Yassemine Khawajkie, Nawel Mechtouf, Maryam Rezaei, Magali Breguet, Elvira Kurvinen, Sujatha Jagadeesh, Asli Ece Solmaz, Monica Aguinaga, Reda Hemida, Mehmet Ibrahim Harma, Cécile Rittore, Kurosh Rahimi, Jocelyne Arseneau, Karine Hovanes, Ronald Clisham, Tiffanee Lenzi, Bonnie Scurry, Marie-Claude Addor, Rashmi Bagga, Genevieve Girardet Nendaz, Vildana Finci, Gemma Poke, Leslie Grimes, Nerine Gregersen, Kayla York, Pierre-Adrien Bolze, Chirag Patel, Hossein Mozdarani, Jacques Puechberty, Jessica Scotchie, Majid Fardaei, Muge Harma, RJ McKinlay Gardner, Trilochan Sahoo, Tracy Dudding-Byth, Radhika Srinivasan, Philippe Sauthier, Rima Slim
Journal
About The Publication

Abstract

Background:

Recurrent hydatidiform mole (RHM) is defined by the occurrence of at least two hydatidiform moles (HM),which are aberrant human pregnancies characterized by early embryonic arrest and extensive trophoblastic proliferation. NLRP7 and KHDC3L are two known genes responsible for this condition; there are however some patients who do not have mutations in these two genes.

Methods:

New patients were screened for NLRP7 and KHDC3L mutations by Sanger sequencing and 80 HM were analyzed by morphology and various genotyping methods.

Results:

We report seven novel NLRP7 pathogenic variants in recessive state, including two mediated by Alu elements, an insertion in exon 4 and a 9,287-bp deletion that removes the promoter region. We demonstrate that all analyzed HM from patients with recessive NLRP7 or KHDC3L mutations are diploid biparental while those from patients without mutations are highly heterogeneous and only a minority of them are diploid biparental. The three mechanisms that were found to recur in patients without mutations are diploid biparental (8%), androgenetic monospermic (24%), and triploid dispermic (32%); the remaining cases were due either to misdiagnosis of HM or caused by rare and unusual mechanisms. We compared three parameters of genetic susceptibility in patients with and without mutations and show that patients without mutations are mostly from non-familial cases, have fewer reproductive losses, and more live births.

Conclusions:

Our data demonstrate that patients without mutations in the known genes have heterogeneous mechanisms at the origin of their RHM and are, in general, different from patients with recessive mutations. They have a milder genetic susceptibility and/or a multifactorial etiology underlying their RHM. Our findings will greatly facilitate the identification of novel genes for RHM that will benefit from the classification of the patients according to the genotypic types of their RHM.
01 Sep 2016

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole

Human Genome Variation; 3, 16027; doi:10.1038/hgv.2016.27


Journal Maryam Rezaei, Ngoc Minh Phuong Nguyen, Leila Foroughinia, Pratima Dash, Fatemeh Ahmadpour, Ishwar Chandra Verma, Rima Slim, Majid Fardaei

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole

Maryam Rezaei, Ngoc Minh Phuong Nguyen, Leila Foroughinia, Pratima Dash, Fatemeh Ahmadpour, Ishwar Chandra Verma, Rima Slim, Majid Fardaei
Journal
About The Publication

Abstract

Recurrent hydatidiform mole (RHM) is defined by the occurrence of repeated molar pregnancies in affected women. Two genes, NLRP7 and KHDC3L, play a causal role in RHM and are responsible for 48–80% and 5% of cases, respectively. Here, we report the results of screening these two genes for mutations in one Iranian and one Indian patient with RHM. No mutations in NLRP7 were identified in the two patients. KHDC3L sequencing identified two novel protein-truncating mutations in a homozygous state, a 4-bp deletion, c.17_20delGGTT (p.Arg6Leufs*7), in the Iranian patient and a splice mutation, c.349+1G>A, that affects the invariant donor site at the junction of exon 2 and intron 2 in the Indian patient. To date, only four mutations in KHDC3L have been reported. The identification of two additional mutations provides further evidence for the important role of KHDC3L in the pathophysiology of RHM and increases the diversity of mutations described in Asian populations.
15 Sep 2016

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

European Journal of Human Genetics volume 24, pages1445–1452 (2016)


Journal Ramesh Reddy, Ngoc MP Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra CG Rivas, Aysenur Kavasoglu, Hakan Berkil, Alaa Elshafey, Kristin P Nunez, Hélène Dreyfus, Merviel Philippe, Zahra Hadipour, Asude Durmaz, Erin E Eaton, Brittany Schubert, Volkan Ulker, Fatemeh Hadipour, Fatemeh Ahmadpour, Isabelle Touitou, Majid Fardaei, Rima Slim

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

Ramesh Reddy, Ngoc MP Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra CG Rivas, Aysenur Kavasoglu, Hakan Berkil, Alaa Elshafey, Kristin P Nunez, Hélène Dreyfus, Merviel Philippe, Zahra Hadipour, Asude Durmaz, Erin E Eaton, Brittany Schubert, Volkan Ulker, Fatemeh Hadipour, Fatemeh Ahmadpour, Isabelle Touitou, Majid Fardaei, Rima Slim
Journal
About The Publication

Abstract

NLRP7 is a major gene responsible for recurrent hydatidiform moles. Here, we report 11 novel NLRP7 protein truncating variants, of which five deletions of more than 1-kb. We analyzed the transcriptional consequences of four variants. We demonstrate that one large homozygous deletion removes NLRP7 transcription start site and results in the complete absence of its transcripts in a patient in good health besides her reproductive problem. This observation strengthens existing data on the requirement of NLRP7 only for female reproduction. We show that two other variants affecting the splice acceptor of exon 6 lead to its in-frame skipping while another variant affecting the splice donor site of exon 9 leads to an in-frame insertion of 54 amino acids. Our characterization of the deletion breakpoints demonstrated that most of the breakpoints occurred within Alu repeats and the deletions were most likely mediated by microhomology events. Our data define a hotspot of Alu instability and deletions in intron 5 with six different breakpoints and rearrangements. Analysis of NLRP7 genomic sequences for repetitive elements demonstrated that Alu repeats represent 48% of its intronic sequences and these repeats seem to have been inserted into the common NLRP2/7 primate ancestor before its duplication into two genes.
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SKILLS

ADVANCED TRAINING
Three modules mouse husbandry trainings at McGill University Animal Care Committee (UACC)- December 2020 > This advanced training demonstrated how to work with mouse models and doing experiments on this animal model.
LEVEL : ADVANCED EXPERIENCE : 1 year
mouse model mouse husbandry
FireCloud and GATK workshop by the Broad Institute of Harvard and MIT- March 2018 (Genomic Analysis-Germline variant discovery-Somatic variant discovery-Pipelining). > This training demonstrated how to analyze exome sequencing data from raw data to producing variant calling files (VCF).
Exome Sequencing GATK variant calling files WES
Introduction to R Programming and Python-July 2021 > This workshop introduced me analyzing genome data using Python and R programming languages.
python R
SOFTWARE SKILLS
Chromosome Analysis Suite 3.1 (ChAS) software to observe and interpret microarray analysis results >
Chromosome Analysis Suite 3.1 (ChAS)
Peak ScannerTM Software v1.0 to interpret the genotyping data >
Peak ScannerTM Software
PROFESSIONAL MEMBERSHIP
McGill Toastmaster Club since May 2018 >
toastmasters public speaking
LANGUAGE SKILLS
ENGLISH > ADVANCED PROFICIENCY (IELTS band score 7)
english
PERSIAN > Native language
persian
TURKISH > Basic Proficiency
turkish
FRENCH > Basic Proficiency
french
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WORKS

MY PORTFOLIO
Projects number 0
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UPDATES

NEWS

Our CCNB3 Paper Has Appeared in the News

Below are some press articles and radio show about the "A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I" paper.

If you would like to listen to it, you can jump to:
SoundCloud Link
The article Jean-Benoit Legault:
You can read the article from here

La Presse:

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CONTACT

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LET'S GET IN TOUCH

You can contact me about research projects related to molecular genetics, paper collaboration, and review requests.