Dr.Öğr. Üyesi Burcu TÜRKGENÇ

Tıp Fakültesi(İng.)/Tıbbi Biyoloji Anabilim Dalı Başkanı

burcu.turkgencuskudar.edu.tr

(0216) 400 2222 / 3046

ORCID: 000-0001-7306-5866

Citation : 329 | h-index : 9 | i10-index : 8

: 8
: 0

Araştırma Alanları

tıbbi biyoloji, tıbbi genetik, moleküler biyoloji ve genetik, biyoteknoloji, biyoloji

Araştırma Alanları İle Örtüşen BM Sürdürülebilir Kalkınma Hedef Etiketleri

3 4 17

Kısa Özgeçmiş

Burcu Türkgenç 1981 yılında Giresun’da doğmuştur. Lisans eğitimini 2003 yılında Hacettepe Üniversitesi Fen-Edebiyat Fakültesi Biyoloji Bölümü’nden almıştır. Ardından yüksek lisansını eğitimini 2007 senesinde yine Hacettepe Üniversitesi Fen Fakültesi Biyoteknoloji Anabilim Dalı’ndan alan Türkgenç, doktorasını ise 2016 yılında Marmara Üniversitesi Tıbbi Biyoloji ve Genetik Anabilim Dalı’nda tamamlamıştır. Kariyer hayatına 2004 yılında ‘Hacettepe Üniversitesi Tıp Fakültesi, İhsan Doğramacı Hastanesi, Pediatrik Hematoloji Bölümü, Gen Haritalama Laboratuvarı'nda’, proje asistanı olarak çalışarak başlamıştır. 2007-2021 yılları arasında Uzman Biyolog/Moleküler Biyolog/Koordinatör olarak İstanbul’daki çeşitli genetik tanı merkezlerinde çalışmıştır. 2021 yılında doktor öğretim üyesi ünvanını almıştır. 
Doktora çalışması, Bilim Sanayi ve Teknoloji Bakanlığı (San-Tez) Projesi ile desteklenmiştir. Bu proje ile Türkgenç, Türkiye genelinde, Uzun QT Sendromunu da içine alan kalıtsal kardiyolojik ritim bozukluklarının moleküler mekanizmalarını çalışmıştır. Tek Gen ve Kompleks Gen Hastalıklarını içeren insan genetiği ile ilgili birçok alt alanda (Kardiyogenetik, İmmümogenetik, Nörogenetik, Kanser genetiği, İskelet, Bağ Doku ve Cilt Hastalıkları Genetiği, İnfertilite...) çalışma ve yayınları olan Türkgenç, 2022 yılından itibaren Üsküdar Üniversitesi Tıp Fakültesi (İngilizce) Tıbbi Biyoloji Anabilim Dalı’nda Doktor Öğretim Üyesi olarak görev yapmaktadır.

Devamı

Öğrenim Durumu & Akademik Unvanlar

2003

Lisans

Hacettepe Üniversitesi hacettepe üniversitesi

2007

Yüksek Lisans

Hacettepe Üniversitesi Biyoteknoloji

2016

Doktora

Marmara Üniversitesi Tıbbi Biyoloji ve Genetik

Yönetilen Lisansüstü Tezleri

  1. ŞİZOFRENİ HASTALARINDA SİRKADİYEN GENLERDEN CLOCK rs1801260 POLİMORFİZMİNİN İNCELENMESİ, 2024.
  2. ÖZGÜN BİR GENETİK PROTOKOL ile ERKEK İNFERTİL HASTALARDA Y MİKRODELESYONLARININ İNCELENMESİ, 2024.

Akademik Faaliyetler > Yayınlar

(Scopus) Toplam: 14

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy

Journal of Neurogenetics (2024)

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From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy

Applied Immunohistochemistry & Molecular Morphology (2023)

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MGMT in glial carcinogenesis. Roles from prevention to treatment

European Journal of Cancer Prevention (2022)

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Article has an altmetric score of 1

FUNCTIONAL & INTEGRATIVE GENOMICS (2022)

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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

Article has an altmetric score of 60

American journal of human genetics (2020)

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A novel homozygous nonsense mutation in CAST associated with PLACK syndrome

Article has an altmetric score of 2

CELL AND TISSUE RESEARCH (2019)

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Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

Connective Tissue Research (2019)

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STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16

Article has an altmetric score of 1

Human Mutation (2018)

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Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports

BMC Medical Genetics (2017)

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A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections

Article has an altmetric score of 1

Frontiers in Endocrinology (2017)

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Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

Article has an altmetric score of 12

Molecular Genetics & Genomic Medicine (2013)

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Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

Clinical Genetics (2009)

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Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

Article has an altmetric score of 3

British Journal of Ophthalmology (2008)

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Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

American Journal of Medical Genetics Part A (2007)

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Akademik Faaliyetler > Yayınlar

(Diğer Bilimsel Yayınlar) Toplam: 1

An Original Genetic Protocol For The Investigation of Y Microdeletions In Male Infertile Patients

Osmangazi Journal of Medicine (2025)

Akademik Faaliyetler > Kitap - Kitap Bölümü

(Diğer) Toplam: 1
  1. BRS: Hücre Biyolojisi ve Histoloji (Leslie P. Gartner, James L. Hiatt,yedinci baskı), 3. Bölüm: Sitoplazma ve Organeller, Burcu Türkgenç, Şehime Gülsün Temel, Istanbul Tıp Kitabevi, 2016

Akademik Faaliyetler > Kongre - Konferans Katılım

  1. 2. Tıp Öğrencileri Kongresi-‘Doğal Afetlere Tıbbi Yaklaşım’, 2023.

İdari Faaliyetler

  1. Koordinatör / Coordinator, Erasmus Koordinatörlüğü (Enstitü / Fakülte / MYO), (2023 - Devam ediyor.)
  2. Ana Bilim Başkanı / Head of Department, Tıbbi Biyoloji Anabilim Dalı Başkanı, (2022 - Devam ediyor.)
  3. Koordinatör / Coordinator, Ders Yılı Koordinatörü - Tıp Fakültesi, (2022 - Devam ediyor.)
  4. Komisyon Üyesi / Member of Commission, Uluslararası Öğrenciler Akademik Komisyonu, (2022 - Devam ediyor.)
  5. Komisyon Üyesi / Member of Commission, Bologna Komisyonu, (2022 - Devam ediyor.)
  6. Çalışma Grubu Üyelikleri / Research Group Membership, NPNörogenetik Çalışma Grubu, (2022 - Devam ediyor.)

Ödüller

  1. ALS Tedavisinde Yenilikçi Bir Yaklaşım: Progranulin Artırılması ve Otofaji Aktivasyonu” başlıklı proje ile, TEKNOFEST 2024 Biyoteknoloji ve İnovasyon-Nadir Hastalıklar Genetik Tedavi Kategorisinde (RaDiChal), danışmanlığını yaptığım NeuroSpectra ekibi olarak, Türkiye 3.'lüğü ödülümüzü aldık., (Tübitak-SANAYİ ve Teknoloji Bakanlığı), 2024.

Eğitim ve Öğretim Faaliyetleri

  1. Tıpta Kurul Dersleri (Kurul 1B), (Lisans / 2023-2024 Bahar)
  2. İmmünoloji, (Lisans / 2023-2024 Bahar)
  3. Hücre ve Doku Kurulu, (Lisans / 2023-2024 Bahar)
  4. Tıpta Kurul Dersleri (Kurul 1A), (Lisans / 2023-2024 Güz)
  5. Temel Genetik, (Lisans / 2023-2024 Güz)
  6. Medical Committee Courses (Com 1A), (Lisans / 2023-2024 Güz)
  7. Tıp Kurul I, (Lisans / 2023-2024 Güz)