Bilimsel Program

16 Eylül 2021, Perşembe

09:00-09:20 AÇILIŞ
09:20-10:30 TÜRKİYE'DE AŞI PLATFORMLARI
Oturum Başkanları: Mustafa Çalış, Munis Dündar
09:20-09:40 mRNA aşılarının bugünü ve geleceği Nadir Koçak
09:40-10:00 Erciyes Üniversitesi'nde yapılan aşı çalışmaları Aykut Özdarendeli
10:00-10:30 Tartışma  
10:30-10:50 KAHVE ARASI
10:50-12:00 OTURUM
Oturum Başkanları: Haluk Akın, Nurten Akarsu
10:50-11:10 Exome and genome sequencing to identify the causes of rare disorders Andreas Janecke
11:10-11:30 Approach to skeletal dysplasias Julia Vodopiutz
11:30-11:50 MYO5B mutations in intestinal and liver disease Denise Aldrian
11:50-12:00 Tartışma  
12:00-13:30 ÖĞLE YEMEĞİ
13:30-14:15
UYDU SEMPOZYUMU
Illumina new and improved cytogenetic solutions with Nx Clinical
Moderatör: Mehmet Köşker
Konuşmacı: Xavier David
14:15-15:50

SÖZEL SUNUMLAR 1

Oturum Başkanları: Fatma Sılan, Zuhal Altıntaş, Ayfer Ülgenalp

15:50-16:10 KAHVE ARASI
16:10-18:00 NÖROGENETİK
Oturum Başkanları: Ahmet Okay Çağlayan, Murat Derya Erçal
16:10-16:30 Recent advencement in mendelian genomics Shrikant Mane
16:30-16:50 Why genetic testing for ataxia genes should be routine? Margit Burmeister
16:50-17:10 Functional analysis of autism risk genes Ellen J. Hoffman
17:10-17:30 Zebra balığının nöronal dejenerasyon, rejenerasyon ve nörodejeneratif hastalık araştırmalarında bir model olarak kullanılması Güneş Özhan
17:30-17:50 Çocuk nöroloji hastalarında nörogenetik olgu örnekleri Hüseyin Per
17:50-18:00 Tartışma  

17 Eylül 2021, Cuma

09:00-10:30 ULUSAL GENETİK KONSORSİYUMU ÇALIŞTAYI - VERİ SUNUSU
Oturum Başkanları: Munis Dündar, Şehime Gülsün Temel, Mehmet Ali Ergün
09:00-09:20 Ulusal Genetik Konsorsiyumu: MEFV gen varyantlarının klinik ve moleküler olarak Türk nüfusunda incelenmesi Umut Fahrioğlu
09:20-09:40 Konsorsiyumlar ışığında genetik verilerin kullanımı: BRCA örneği Atıl Bişgin
09:40-10:00 Türk popülasyonunda COVID-19 hastalığının konakçı hücre enfeksiyon aracıları ACE2 ve TMPRSS gen varyantlarının doğrudan tüm ekzom dizileme ile analizi Mahmut Çerkez Ergören
10:00-10:20 SARS-CoV-2 enfeksiyonu, hiperkoagulabilite ve kalıtsal trombofili faktörleri Aslıhan Kiraz
10:20-10:30 Tartışma  
10:30-10:50 KAHVE ARASI
10:50-12:20 KANSER BİYOLOJİSİNE YENİ BİR BAKIŞ
Oturum Başkanları: Feride Şahin, Ahmet Dursun
10:50-11:10 Akciğer kanser invazyonunun mikro RNA aracılı kontrolü Hakan Akça
11:10-11:30 Klinik uygulamada genomik profilleme Zerrin Yılmaz Çelik
11:30-11:50 Genomik profillemede yöntem seçimi Yunus Kasım Terzi
11:50-12:10 Genomik profillemede sonuç-klinik uygumsuzluğu Feride Şahin
12:10-12:20 Tartışma  
12:20-13:30 ÖĞLE YEMEĞİ
13:30-14:15
UYDU SEMPOZYUMU
SEQ Platformu: Yeni Nesil Dizileme ile Nadir Hastalık ve Somatik Örnek Analizinde İnovatif Çözümler
Moderatör: Munis Dündar
Konuşmacı: Tolga Aslan
14:15-15:50

SÖZEL SUNUMLAR 2

Oturum Başkanları: Taha Bahsi, Uğur Özbek, Oya Uyguner

15:50-16:10 KAHVE ARASI
16:10-17:40 OTURUM
Oturum Başkanları: Hilmi Tozkır, Seher Başaran, Birsen Karaman
16:10-16:30 A twist of fate Andrea Taylor
16:30-16:50 Microarray applications in clinical decisions Sibel Kantarcı
16:50-17:10 Genetik kardiyak hastalıklar Ahmet Arman
17:10-17:30 Olgularla santral hipotiroidi: Klinik ve genetik yaklaşım Nihal Hatipoğlu
17:30-17:40 Tartışma  

18 Eylül 2021, Cumartesi

09:00-10:30 OTURUM
Oturum Başkanları: Abdulgani Tatar, Gökay Bozkurt, Aslı Subaşıoğlu
09:00-09:20 Hemoglobinopatilerde genetik tedavi yaklaşımları Ferda Özkınay
09:20-09:40 Preimplantasyon genetik testlerde güncel gelişmeler Burak Durmaz
09:40-10:00 Ulusal yeni doğan tarama programlarının genetik tanıya etkisi: Kistik fibrozis özelinde durum Sevcan Tuğ Bozdoğan
10:00-10:20 Kanserde mutasyon imzası tespitine yönelik genom analizleri ve biyoinformatik süreçler İbrahim Boğa
10:20-10:30 Tartışma  
10:30-10:50 KAHVE ARASI
10:50-12:20 OTURUM
Oturum Başkanları: Nejat İmirzalıoğlu, Öztürk Özdemir, Sevilhan Artan
10:50-11:10 Geçmişten günümüze Robinow sendromu Ferda Perçin
11:10-11:30 Long non coding RNA’lar ve kanser ilişkisi Hakan Gürkan
11:30-11:50 Genetik tanıdan tedaviye splicing varyasyonlarına yaklaşım Selma Demir
11:50-12:10 Lösemi genetiğine sitogenetik yaklaşım Beyhan Durak Aras
12:10-12:20 Tartışma  
12:20-13:30 ÖĞLE YEMEĞİ
13:30-14:15
UYDU SEMPOZYUMU
Solid tümörlerde likit biyopsi ile kapsamlı genomik profilleme hayal mi gerçek mi?
Moderatör: Munis Dündar
Konuşmacı: M. Cengiz Yakıcıer
14:15-15:50

SÖZEL SUNUMLAR 3

Oturum Başkanları: Tülay Tos, Sevda Yeşim Özdemir, Tülin Çora

15:50-16:10 KAHVE ARASI
16:10-17:40 OTURUM
Oturum Başkanları: Mahmut Selman Yıldırım, Emine Berrin Yüksel, Yusuf Özkul
16:10-16:30 Hassas tıp: Yeni nesil dizileme ile sıvı biyopsi ve füzyon belirleme Şehime Gülsün Temel
16:30-16:50 Epigenetik faktörlerin hastalıklar ile ilişkisi Asude Durmaz
16:50-17:10 Yüksek çözünürlüklü CNV analizinin klinik tanıya etkisi Ahmet Cevdet Ceylan
17:10-17:30 Tüm ekzom dizileme analizinde rastlantısal bulunan varyantların değerlendirilmesi Vehap Topçu
17:30-17:40 Tartışma  
17:40 KAPANIŞ VE ÖDÜL TÖRENİ

16 Eylül 2021, Perşembe

14:15 - 15:50 SÖZEL SUNUMLAR 1
Oturum Başkanları: Fatma Sılan, Zuhal Altıntaş, Ayfer Ülgenalp
SS-16-001 - 0082
Schimke immuno-osseous dysplasia patient with early renal dysfunction harboring a novel homozygous mutation in SMARCAL1 gene
Ceren Alavanda
SS-16-002 - 0090
A Novel GJC2 Mutation Causing Pelizaeus-Merzbacher-like Disease
Hamza Polat
SS-16-003 - 0100
Association of LACC1 with systemic juvenile idiopathic arthritis: A single center study
Cem Mujde
SS-16-004 - 0118
A novel KMT2A gene mutation in a case with facial dysmorphysm, growth and developmental retardation and syndactyly
Akif Ayaz
SS-16-005 - 0121
Homozygous Frameshift Mutation of DCAF17 in a case of Woodhouse–Sakati syndrome
Büşra Göksel Tulgar
SS-16-006 - 0129
Relationship of MPV, coagulation parameters, and genetic results with the inflammatory process in patients with FMF children
Kübra Yüksek Acinikli
SS-16-007 - 0131
Bioinfomatics analysis of prognostic miRNA signature and potential key genes in colorectal cancer
Elif Onur
SS-16-008 - 0084
A novel mutation of SAR1B gene in two children with chylomicron retention disease
Şenol Demir
SS-16-009 - 0157
The evaluation of rare and low-frequency genetic variants in common variable immune deficiency (CVID) patients together with CV/RVCD (common variant/rare variant, common disease) hypothesis for final interpretation
Ozge Sonmezler
SS-16-010 - 0160
Discordance of NGS-CNV and MLPA Methods in a Hereditary Cancer Case
Nihat Buğra Ağaoğlu
SS-16-011 - 0098
Evaluation of protein oxidation in streptozotocin induced diabetic rats
Meltem Demir
SS-16-012 - 0112
The hint points of QF-PCR for abortus material chromosomal analyses
İpek Yılmaz
SS-16-013 - 0124
Infantile-onset ascending hereditary spastic paralysis; A Rare Case
Deniz Esin
SS-16-014 - 0186
Two novel KMT2D variants in a series of 7 patients with Kabuki syndrome
Fırat Özçelik
SS-16-015 - 0192
Retrospective evaluation of amniocentesis analysis results for prenatal diagnosis
Hilal Akalın

17 Eylül 2021, Cuma

14:15 - 15:50 SÖZEL SUNUMLAR 2
Oturum Başkanları: Taha Bahsi, Uğur Özbek, Oya Uyguner
SS-17-001 - 0185
2 cases with MRT7 Syndrome and a novel mutation in the TUSC3 gene
Elif Uzay
SS-17-002 - 0188
Prevalence of SARS-CoV-2 N501Y mutation in Northern Cyprus
Gulten Tuncel
SS-17-003 - 0146
Investigation of Hereditary Breast and Ovarian Cancer Variants by Targeted High-Throughput Sequencing Method: Single Center Experience
Hazal Sezginer Guler
SS-17-004 - 0086
Two siblings with a novel homozygous mutation in the UNC80 gene with IHPRF-2
Fatma Uğuzdoğan
SS-17-005 - 0088
Toll-like receptor 3 c.1377C/T and -7C/A polymorphisms in COVID-19 infection
Nil Özbilüm Şahin
SS-17-006 - 0111
A cleft palate with 49, XXXXY karyotype: A case report
Sercan Kenanoglu
SS-17-007 - 0172
A Case With Atypical Autism and Hereditary Motor Sensory Neuropathy
Mustafa Tarık Alay
SS-17-008 - 0145
Investigation of Genetic Etiology in Gastrointestinal Cancer Patients with Next Generation Sequencing Method
Drenushe Zhuri
SS-17-009 - 0156
A rare disease associated with the CDK13 gene: CHHDFIDD
Çağrı Doğan
SS-17-010 - 0163
A case report of pericentric inversion, inv (21) (p12; q22) in repeated pregnancy loss
Cansu Aydın
SS-17-011 - 0196
A case of rare CYP26B1-related craniosynostosis in a Turkish female patient
Mikail Demir
SS-17-012 - 0198
A novel homozygous mutation in CYP11A1 gene in 46, XX patient with P450scc deficiency
Hande Kulak Abay
SS-17-013 - 0199
A novel homozygous variant in SUOX gene causes classic isolated sulfite oxidase deficiency: a case report
Kübra Uslu
SS-17-014 - 0201
Evaluation of chimerism test and genetic translocation results in ALL, AML and CML patients
Büşra Tan
SS-17-015 - 0203
A case report of Alstrom syndrome in a Turkish girl with syndromic obesity
Mustafa Yakubi

18 Eylül 2021, Cumartesi

14:15 - 15:50 SÖZEL SUNUMLAR 3
Oturum Başkanları: Tülay Tos, Sevda Yeşim Özdemir, Tülin Çora
SS-18-001 - 0107
Installation of Down syndrome screening test platform and evaluation of results
Mesut Yağcı
SS-18-002 - 0181
Multiple Findings in Diagnostic Whole Exome Sequencing: A Case Based Story to True Diagnosis
Sinem Ozer
SS-18-003 - 0182
The utility of non-invasive longitudinal molecular profiling for lung cancer patients
Cagla Rencuzogullari
SS-18-004 - 0115
Restriction Fragment Analysis Results in Patients with SMA
Yunus Arikan
SS-18-005 - 0176
Genotip-Fenotip İlişkisinin Doğru Değerlendirilmesinde Harman Fenotipler
Arda Çetinkaya
SS-18-006 - 0190
A novel variant in the autosomal dominant form of LGMDR1 (LGMDD4)
İzem Olcay Şahin
SS-18-007 - 0204
A case with extra derivative choromosome 22
Rumeysa Atasay
SS-18-008 - 0205
Short stature caused by ACAN gene mutation; a case report
Emine Karataş
SS-18-009 - 0207
Molecular evaluation of patients with pre-diagnosed Dravet Syndrome
Nuriye Gokce
SS-18-010 - 0208
A novel L1CAM variant detected in two siblings with L1 spectrum disorder
Şeyma Aktaş
SS-18-011 - 0210
Assessment of patogenic mutations in different cases with hereditary ovarian and endometrial cancer
Nefise Kandemir
SS-18-012 - 0212
Autosomal recessive phenotype does not always guarantee a symptom free phenotype: Comparison of diagnosed cases of Hereditary sensory and autonomic neuropathy type IIA (HSAN2A) versus type IIB (HSAN2B).
Muhammer Özgur Çevik
SS-18-013 - 0193
Effects of VDR polymorphisms on the COVID-19 Symptoms
Pınar Ata
POSTER SUNUMLAR
PS-001 - 0085
A very rare case of metabolic disease with hypolacrima and cerebellar tonsillar herniation
Şenol Demir
PS-002 - 0087
A patient with a novel homozygous CD55 gene mutation and its clinical presentation
Fatma Uğuzdoğan
PS-003 - 0089
Duplication of 10q24.31 in a family with Congenital Nystagmus and Split-hand/foot Malformation
Ceren Alavanda
PS-004 - 0094
A Case Report Of Beaulieu-Boycott-Innes Syndrome Diagnosed In A Newborn
Muhammed Burak Bereketoglu
PS-005 - 0099
Two Cases Reports with Leber Congenital Amarosis and Senior-Loken Syndrome
Hanife Saat
PS-006 - 0109
Identification of Relationship between Multiple Sclerosis and IL-7R Alpha gene T244I (rs6897932 C/T) Polymorphism in Turkish population
Ahmet Arman
PS-007 - 0114
Three rare variants in one patient: A case report
Momen Kanjee
PS-008 - 0116
A Patient with Spinocerebellar Ataxia and Hair Abnormality
Mutlu Karkucak
PS-009 - 0119
Case Report: Description of a Patient with Warkany syndrome 2
Fahrettin Duymuş
PS-010 - 0120
A Novel Germline Mutation in ANKRD11 Gene Causing KBG syndrome: A Case Report
Kubra Ates
PS-011 - 0123
Two siblings with Escobar syndrome
Murat Ozturk
PS-012 - 0126
Thoracic Syringomyelia in A Female Infant Presenting with 17p13.1 Deletion Syndrome
Neslihan Cinkara
PS-013 - 0127
Compound Heterozygous SPINK5 Gene Mutations and Heterozygous FLG Gene Mutation in A Infant with Netherton Syndrome
Mutlu Karkucak
PS-014 - 0132
A Case of Branchio-Otic Syndrome
Mustafa Yılmaz
PS-015 - 0136
A case of partial 2p duplication with novel findings
Levent Şimşek
PS-016 - 0142
Jumping translocation of Chromosome 1q in a Case of Burkitt Lymphoma
Betül Turan
PS-017 - 0164
Uniparental disomic effects by CNVs and structural point mutations in ELN gene: comparison of two cases
Yunus Emre Mutluer
PS-018 - 0108
Association between Sporadic Parkinson Disease and IL-12B Gene Polymorphisms in the Turkish Population
Ahmet Arman
PS-019 - 0110
Investigation of the Effects of Obesity on the Pluripotency Feature of Mouse Adipose Tissue Originated Mesenchymal Stem Cells
Zeynep Günaydın
PS-020 - 0139
Partial monosomy 9q: a novel case with distinct cytogenetic features
Sümeyye Kaya
PS-021 - 0140
Variations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1
Betül Okur Altındaş
PS-022 - 0152
COVID-19 pandemic in patients with familial mediterranean fever; The possible protective role of colchicine in COVID-19 symptoms
Mehmet Berkay Akcan
PS-023 - 0154
The acquisition of mosaic trisomy 8 associated with corpus callosum agenesis in Warkany syndrome 2: A Case Report
Menekşe Öztürk
PS-024 - 0155
ATP7B gene mutations sequenced in 100 patients
Sümeye Öztürk
PS-025 - 0165
De novo GABRB3 c.103G>A mutation detected in a patient with epilepsy and speech retardation: case report
Nihan Ecmel Akbaş
PS-026 - 0167
From tissue to diagnosis; case report with Proteus Syndrome
Ahmet Kablan
PS-027 - 0170
Submicroscopic evaluation with chromosomal microarray to elucidate the genetic etiology of patients with cerebral palsy: A case series report
Fatma Sılan
PS-028 - 0171
NBN gene mutations with clinical spectrum in our patients who applied to our outpatient clinic: Case series
Volkan Sonmez
PS-029 - 0183
Pericentric invertion and duplication deletion of chromosome 8p syndrome: Report of two cases
Derya Kaya
PS-030 - 0184
A rare 22q11.2 microduplication in a boy with poor head control: a case report
Kübra Müge Çelik
PS-031 - 0162
Bloom Syndrome with Wilms’ Tumor: A Case Report
Ömer Yakar
PS-032 - 0175
Two different microdeletion syndromes in two siblings
Kübra Metli
PS-033 - 0102
Identification of a COPA Gene Variant in a Patient with Kidney Involvement and Autoimmunity
Mutlu Karkucak
PS-034 - 0138
Three previously unknown DOCK8 variants in a patient with “Hyper-IgE recurrent infection syndrome” phenotype
Ahmet Burak Arslan
PS-035 - 0169
The role of balanced chromosomal translocation in the etiology of habitual abortion and the importance of traditional karyotype analysis in definitive diagnosis: Case Report
Onur Recep Gündüz
PS-036 - 0194
A male individual with t(2;7)(p23;q35) anomaly: A case report
Abdulbaki Yildirim
PS-037 - 0137
Co-occurrence of 6q25 microdeletion and 14q32 microduplication in a dysmorphic child
Hazal Uzun
PS-038 - 0166
t(11;17) Balanced Reciprocal Translocation Detected in an Infertile Couple: A Case Report
Canan Köse
PS-039 - 0125
Congenital disorder of glycosylation type IIm disease and a novel de novo frameshift mutation in SLC35A2 gene
Akif Ayaz
PS-040 - 0159
Molecular and clinical approach to the MEDNIK-like syndrome
Nigar Shirinova
PS-041 - 0209
Detection and clinical implications of exosome-based EGFR mutations from plasma of non-small cell lung cancer patients
Ege Rıza Karagür
PS-042 - 0213
Molecular investigation of patients diagnosed with Crouzen Syndrome by next-generation sequencing method
Damla Badur Mermer
PS-043 - 0214
A de novo mutation in EHHADH gene in a child with Fanconi Renotubular syndrome-3
Mutlu Karkucak

Kongreye Kalan
Duyurular
  • 16 Eylül 2021
    Kongre Başlangıç Tarihi
  • 18 Eylül 2021
    Kongre Bitiş Tarihi
  • 13 Eylül 2021
    Bildiri Özeti Son Gönderim Tarihi


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