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  • Open Access

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015
BMC Genomics201617 (Suppl 6) :487

https://doi.org/10.1186/s12864-016-2858-0

  • Published:

Table of contents

O1 Regulation of genes by telomere length over long distances

Jerry W. Shay

O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy

Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa

O3 Integration of metagenomics and metabolomics in gut microbiome research

Maryam Goudarzi, Albert J. Fornace Jr.

O4 A unique integrated system to discern pathogenesis of central nervous system tumors

Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri

O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis

Heba Alkhatabi

O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service

Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp

O7 Targeted sequencing panels and their utilization in personalized medicine

Adel M. Abuzenadah

O8 International biobanking in the era of precision medicine

Jim Vaught

O9 Biobank and biodata for clinical and forensic applications

Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida

O10 Tissue microarray technique: a powerful adjunct tool for molecular profiling of solid tumors

Jaudah Al-Maghrabi

O11 The CEGMR biobanking unit: achievements, challenges and future plans

Abdelbaset Buhmeida, Mourad Assidi, Leena Merdad

O12 Phylomedicine of tumors

Sudhir Kumar, Sayaka Miura, Karen Gomez

O13 Clinical implementation of pharmacogenomics for colorectal cancer treatment

Angel Carracedo, Mahmood Rasool

O14 From association to causality: translation of GWAS findings for genomic medicine

Ahmed Rebai

O15 E-GRASP: an interactive database and web application for efficient analysis of disease-associated genetic information

Sajjad Karim, Hend F Nour Eldin, Heba Abusamra, Elham M Alhathli, Nada Salem, Mohammed H Al-Qahtani, Sudhir Kumar

O16 The supercomputer facility “AZIZ” at KAU: utility and future prospects

Hossam Faheem

O17 New research into the causes of male infertility

Ashok Agarwa

O18 The Klinefelter syndrome: recent progress in pathophysiology and management

Eberhard Nieschlag, Joachim Wistuba, Oliver S. Damm, Mohd A. Beg, Taha A. Abdel-Meguid, Hisham A. Mosli, Osama S. Bajouh, Adel M. Abuzenadah, Mohammed H. Al-Qahtani

O19 A new look to reproductive medicine in the era of genomics

Serdar Coskun

P1 Wnt signalling receptors expression in Saudi breast cancer patients

Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Ashraf Dallol, Jaudah Al-Maghrabi, Sahar Hakamy, Wejdan Al-Qahtani, Asia Al-Harbi, Shireen Hussain, Mourad Assidi, Mohammed Al-Qahtani, Adel Abuzenadah

P2 Analysis of oxidative stress interactome during spermatogenesis: a systems biology approach to reproduction

Burak Ozkosem, Rick DuBois

P3 Interleukin-18 gene variants are strongly associated with idiopathic recurrent pregnancy loss.

Safia S Messaoudi, Maryam T Dandana, Touhami Mahjoub, Wassim Y Almawi

P4 Effect of environmental factors on gene-gene and gene-environment reactions: model and theoretical study applied to environmental interventions using genotype

S. Abdalla, M. Nabil Al-Aama

P5 Genomics and transcriptomic analysis of imatinib resistance in gastrointestinal stromal tumor

Asmaa Elzawahry, Tsuyoshi Takahashi, Sachiyo Mimaki, Eisaku Furukawa, Rie Nakatsuka, Isao Kurosaka, Takahiko Nishigaki, Hiromi Nakamura, Satoshi Serada, Tetsuji Naka, Seiichi Hirota, Tatsuhiro Shibata, Katsuya Tsuchihara, Toshirou Nishida, Mamoru Kato

P6 In-Silico analysis of putative HCV epitopes against Pakistani human leukocyte antigen background: an approach towards development of future vaccines for Pakistani population

Sajid Mehmood, Naeem Mahmood Ashraf, Awais Asif, Muhammad Bilal, Malik Siddique Mehmood, Aadil Hussain

P7 Inhibition of AChE and BuChE with the natural compounds of Bacopa monerri for the treatment of Alzheimer’s disease: a bioinformatics approach

Qazi Mohammad Sajid Jamal, Mughees Uddin Siddiqui, Mohammad A. Alzohairy, Mohammad A. Al Karaawi

P8 Her2 expression in urothelial cell carcinoma of the bladder in Saudi Arabia

Taoufik Nedjadi, Jaudah Al-Maghrabi, Mourad Assidi, Heba Al-Khattabi, Adel Al-Ammari, Ahmed Al-Sayyad, Abdelbaset Buhmeida, Mohammed Al-Qahtani

P9 Association of angiotensinogen single nucleotide polymorphisms with Preeclampsia in patients from North Africa

Hédia Zitouni, Nozha Raguema, Marwa Ben Ali, Wided Malah, Raja Lfalah, Wassim Almawi, Touhami Mahjoub

P10 Systems biology analysis reveals relations between normal skin, benign nevi and malignant melanoma

Mohammed Elanbari, Andrey Ptitsyn

P11 The apoptotic effect of thymoquinone in Jurkat cells

Sana Mahjoub, Rabeb El Ghali, Bechir Achour, Nidhal Ben Amor, Mourad Assidi, Brahim N'siri, Hamid Morjani

P12 Sonic hedgehog contributes in bladder cancer invasion in Saudi Arabia

Taoufik Nedjadi, Adel Al-Ammari, Ahmed Al-Sayyad, Nada Salem, Esam Azhar, Jaudah Al-Maghrabi

P13 Association of Interleukin 18 gene promoter polymorphisms - 607A/C and -137 G/C with colorectal cancer onset in a sample of Tunisian population

Vera Chayeb, Maryam Dendena, Hedia Zitouni, Khedija Zouari-Limayem, Touhami Mahjoub

P14 Pathological expression of interleukin-6, -11, leukemia inhibitory factor and their receptors in tubal gestation with and without tubal cytomegalovirus infection

Bassem Refaat, Ahmed M Ashshi, Sarah A Batwa

P15 Phenotypic and genetic profiling of avian pathogenic and human diarrhegenic Escherichia coli in Egypt

Hazem Ramadan, Amal Awad, Ahmed Ateya

P16 Cancer-targeting dual gene virotherapy as a promising therapeutic strategy for treatment of hepatocellular carcinoma

Adel Galal Ahmed El-Shemi, Ahmad Ashshi, Mohammed Basalamah, Youjin Na, Chae-Ok YUN

P17 Cancer dual gene therapy with oncolytic adenoviruses expressing TRAIL and IL-12 transgenes markedly eradicated human hepatocellular carcinoma both in vitro and in vivo

Adel Galal Ahmed El-Shemi, Ahmad Ashshi, Mohammed Basalamah, Youjin Na, Chae-Ok Yun

P18 Therapy with paricalcitol attenuates tumor growth and augments tumoricidal and anti-oncogenic effects of 5-fluorouracil on animal model of colon cancer

Adel Galal El-Shemi, Bassem Refaat, Osama Kensara, Amr Abdelfattah

P19 The effects of Rubus idaeus extract on normal human lymphocytes and cancer cell line

Batol Imran Dheeb, Mohammed M. F. Al-Halbosiy, Rghad Kadhim Al lihabi, Basim Mohammed Khashman

P20 Etanercept, a TNF-alpha inhibitor, alleviates mechanical hypersensitivity and spontaneous pain in a rat model of chemotherapy-induced neuropathic pain

Djouhri, Laiche, Chaudhary Adeel, Nedjadi, Taoufik

P21 Sleeping beauty mutagenesis system identified genes and neuronal transcription factor network involved in pediatric solid tumour (medulloblastoma)

Hani Al-Afghani, Maria Łastowska, Haya H Al-Balool, Harsh Sheth, Emma Mercer, Jonathan M Coxhead, Chris PF Redfern, Heiko Peters, Alastair D Burt, Mauro Santibanez-Koref, Chris M Bacon, Louis Chesler, Alistair G Rust, David J Adams, Daniel Williamson, Steven C Clifford, Michael S Jackson

P22 Involvement of interleukin-1 in vitiligo pathogenesis

Mala Singh, Mohmmad Shoab Mansuri, Shahnawaz D. Jadeja, Hima Patel, Yogesh S. Marfatia, Rasheedunnisa Begum

P23 Cytogenetics abnormalities in 12,884 referred population for chromosomal analysis and the role of FISH in refining the diagnosis (cytogenetic experience 2004-2013)

Amal M Mohamed, Alaa K Kamel, Nivin A Helmy, Sayda A Hammad, Hesham F Kayed, Marwa I Shehab, Assad El Gerzawy, Maha M. Ead, Ola M Ead, Mona Mekkawy, Innas Mazen, Mona El-Ruby

P24 Analysis of binding properties of angiotensin-converting enzyme 2 through in silico method

S. M. A. Shahid, Qazi Mohammad Sajid Jamal, J. M. Arif, Mohtashim Lohani

P25 Relationship of genetics markers cis and trans to the β-S globin gene with fetal hemoglobin expression in Tunisian sickle cell patients

Moumni Imen, Chaouch Leila, Ouragini Houyem, Douzi Kais, Chaouachi Dorra Mellouli Fethi, Bejaoui Mohamed, Abbes Salem

P26 Analysis of estrogen receptor alpha gene polymorphisms in breast cancer: link to genetic predisposition in Sudanese women

Areeg Faggad, Amanuel T Gebreslasie, Hani Y Zaki, Badreldin E Abdalla

P27 KCNQI gene polymorphism and its association with CVD and T2DM in the Saudi population

Maha S AlShammari, Rhaya Al-Ali, Nader Al-Balawi , Mansour Al-Enazi, Ali Al-Muraikhi, Fadi Busaleh, Ali Al-Sahwan, Francis Borgio, Abdulazeez Sayyed, Amein Al-Ali, Sadananda Acharya

P28 Clinical, neuroimaging and cytogenetic study of a patient with microcephaly capillary malformation syndrome

Maha S. Zaki, Hala T. El-Bassyouni, Marwa I. Shehab

P29 Altered expression of CD200R1 on dendritic cells of patients with inflammatory bowel diseases: in silico investigations and clinical evaluations

Mohammed F. Elshal, Kaleemuddin M., Alia M. Aldahlawi, Omar Saadah,

J. Philip McCoy

P30 Development of real time PCR diagnostic protocol specific for the Saudi Arabian H1N1 viral strains

Adel E El-Tarras, Nabil S Awad, Abdulla A Alharthi, Mohamed M M Ibrahim

P31 Identification of novel genetic variations affecting Osteoarthritis patients

Haneen S Alsehli, Ashraf Dallol, Abdullah M Gari, Mohammed M Abbas, Roaa A Kadam, Mazen M. Gari, Mohmmed H Alkaff, Adel M Abuzenadah, Mamdooh A Gari

P32 An integrated database of GWAS SNVs and their evolutionary properties

Heba Abusamra, Sajjad Karim, Hend F Nour eldin, Elham M Alhathli, Nada Salem, Sudhir Kumar, Mohammed H Al-Qahtani

P33 Familial hypercholesterolemia in Saudi Arabia: prime time for a national registry and genetic analysis

Fatima A. Moradi, Omran M. Rashidi, Zuhier A. Awan

P34 Comparative genomics and network-based analyses of early hepatocellular carcinoma

Ibrahim Hamza Kaya, Olfat Al-Harazi, Dilek Colak

P35 A TALEN-based oncolytic viral vector approach to knock out ABCB1 gene mediated chemoresistance in cancer stem cells

Nabila A Alkousi, Takis Athanasopoulos

P36 Cartilage differentiation and gene expression of synovial fluid mesenchymal stem cells derived from osteoarthritis patients

Afnan O Bahmaid, Etimad A Alhwait, Mamdooh A Gari, Haneen S Alsehli, Mohammed M Abbas, Mohammed H Alkaf, Roaa Kadam, Ashraf Dallol, Gauthaman Kalamegam

P37 E-GRASP: Adding an evolutionary component to the genome-wide repository of associations (GRASP) resource

Hend F Nour Eldin, Sajjad Karim, Heba Abusamra, Elham Alhathli, Nada Salem, Mohammed H Al-Qahtani, Sudhir Kumar

P38 Screening of AGL gene mutation in Saudi family with glycogen storage disease Type III

Salma N Alsayed, Fawziah H Aljohani, Samaher M Habeeb, Rawan A Almashali, Sulman Basit, Samia M Ahmed

P39 High throughput proteomic data suggest modulation of cAMP dependent protein kinase A and mitochondrial function in infertile patients with varicocele

Rakesh Sharma, Ashok Agarwal, Damayanthi Durairajanayagam, Luna Samanta, Muhammad Abu-Elmagd, Adel M. Abuzenadah, Edmund S. Sabanegh, Mourad Assidi, Mohammed Al-Qahtani

P40 Significant protein profile alterations in men with primary and secondary infertility

Ashok Agarwal, Rakesh Sharma, Luna Samanta, Damayanthi Durairajanayagam, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani, Adel M. Abuzenadah, Edmund S. Sabanegh

P41 Spermatozoa maturation in infertile patients involves compromised expression of heat shock proteins

Luna Samanta, Ashok Agarwal, Rakesh Sharma, Zhihong Cui, Mourad Assidi, Adel M. Abuzenadah, Muhammad Abu-Elmagd, Mohammed Al-Qahtani

P42 Array comparative genomic hybridization approach to search genomic answers for spontaneous recurrent abortion in Saudi Arabia

Alaa A Alboogmi, Nuha A Alansari, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Hasan S Jamal, Abdullraheem Rozi, Zeenat Mirza, Adel M Abuzenadah, Sajjad Karim, Mohammed H Al-Qahtani

P43 Global gene expression profiling of Saudi kidney cancer patients

Sajjad Karim, Hans-Juergen Schulten, Ahmad J Al Sayyad, Hasan MA Farsi, Jaudah A Al-Maghrabi, Zeenat Mirza, Reem Alotibi, Alaa Al-Ahmadi, Nuha A Alansari, Alaa A Albogmi, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Mohammed H Al-Qahtani

P44 Downregulated StAR gene and male reproductive dysfunction caused by nifedipine and ethosuximide

Rasha A Ebiya, Samia M Darwish, Metwally M. Montaser

P45 Clustering based gene expression feature selection method: A computational approach to enrich the classifier efficiency of differentially expressed genes

Heba Abusamra, Vladimir B. Bajic

P46 Prognostic significance of Osteopontin expression profile in colorectal carcinoma

Jaudah Al-Maghrabi, Wafaey Gomaa, Mehenaz Hanbazazh, Mahmoud Al-Ahwal, Asia Al-Harbi, Wejdan Al-Qahtani, Saher Hakamy, Ghali Baba, Abdelbaset Buhmeida, Mohammed Al-Qahtani

P47 High Glypican-3 expression pattern predicts longer disease-specific survival in colorectal carcinoma

Jaudah Al-Maghrabi, Abdullah Al-Harbi, Mahmoud Al-Ahwal, Asia Al-Harbi, Wejdan Al-Qahtani, Sahar Hakamy, Ghalia Baba, Abdelbaset Buhmeida, Mohammed Al-Qahtani

P48 An evolutionary re-assessment of GWAS single nucleotide variants implicated in the Cholesterol traits

Elham M Alhathli, Sajjad Karim, Nada Salem, Hend Nour Eldin, Heba Abusamra, Sudhir Kumar, Mohammed H Al-Qahtani

P49 Derivation and characterization of human Wharton’s jelly stem cells (hWJSCs) in vitro for future therapeutic applications

Aisha A Alyamani, Gauthaman Kalamegam, Etimad A Alhwait, Mamdooh A Gari, Mohammed M Abbas, Mohammed H Alkaf, Haneen S Alsehli, Roaa A Kadam, Mohammed Al-Qahtani

P50 Attitudes of healthcare students toward biomedical research in the post-genomic era

Rawan Gadi, Abdelbaset Buhmeida, Mourad Assidi , Adeel Chaudhary, Leena Merdad

P51 Evaluation of the immunomodulatory effects of thymoquinone on human bone marrow mesenchymal stem cells (BM-MSCs) from osteoarthritic patients

Saadiah M Alfakeeh, Etimad A Alhwait, Mamdooh A Gari, Mohammed M Abbas, Mohammed H Alkaf, Haneen S Alsehli, Roaa Kadam, Gauthaman Kalamegam

P52 Implication of IL-10 and IL-28 polymorphism with successful anti-HCV therapy and viral clearance

Rubi Ghazala, Shilu Mathew, M.Haroon Hamed, Mourad Assidi, Mohammed Al-Qahtani, Ishtiaq Qadri

P53 Selection of flavonoids against obesity protein (FTO) using in silico and in vitro approaches

Shilu Mathew, Lobna Mira, Manal Shaabad, Shireen Hussain, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani

P54 Computational selection and in vitro validation of flavonoids as new antidepressant agents

Shilu Mathew, Manal Shaabad, Lobna Mira, Shireen Hussain, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani

P55 In Silico prediction and prioritization of aging candidate genes associated with

progressive telomere shortening

Ahmed Rebai, Mourad Assidi, Abdelbaset Buhmeida, Muhammad Abu-Elmagd, Ashraf Dallol, Jerry W Shay

P56 Identification of new cancer testis antigen genes in diverse types of malignant human tumour cells

Mikhlid H Almutairi

P57 More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel sequencing (MPS)

Angie Ambers, Jennifer Churchill, Jonathan King, Monika Stoljarova, Harrell Gill-King, Mourad Assidi, Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Muhammad Al-Qatani, Bruce Budowle

P58 Flow cytometry approach towards treatment men infertility in Saudi Arabia

Muhammad Abu-Elmagd, Farid Ahmed, Ashraf Dallol, Mourad Assidi, Taha Abo Almagd, Sahar Hakamy, Ashok Agarwal, Muhammad Al-Qahtani, Adel Abuzenadah

P59 Tissue microarray based validation of CyclinD1 expression in renal cell carcinoma of Saudi kidney patients

Sajjad Karim, Hans-Juergen Schulten, Ahmad J Al Sayyad, Hasan MA Farsi, Jaudah A Al-Maghrabi, Abdelbaset Buhmaida, Zeenat Mirza, Reem Alotibi, Alaa Al-Ahmadi, Nuha A Alansari, Alaa A Albogmi, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Mohammed H Al-Qahtani

P60 Assessment of gold nanoparticles in molecular diagnostics and DNA damage studies

Rukhsana Satar, Mahmood Rasool, Waseem Ahmad, Nazia Nazam, Mohamad I Lone, Muhammad I Naseer, Mohammad S Jamal, Syed K Zaidi, Peter N Pushparaj, Mohammad A Jafri, Shakeel A Ansari, Mohammed H Alqahtani

P61 Surfing the biospecimen management and processing workflow at CEGMR Biobank

Hanan Bashier, Abrar Al Qahtani, Shilu Mathew, Amal M. Nour, Heba Alkhatabi, Adel M. Abu Zenadah, Abdelbaset Buhmeida, Mourad Assidi, Muhammed Al Qahtani

P62 Autism Spectrum Disorder: knowledge, attitude and awareness in Jeddah, Kingdom of Saudi Arabia

Muhammad Faheem, Shilu Mathew, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani

P63 Simultaneous genetic screening of the coagulation pathway genes using the Thromboscan targeted sequencing panel

Hani A. Alhadrami, Ashraf Dallol, Adel Abuzenadah

P64 Genome wide array comparative genomic hybridization analysis in patients with syndromic congenital heart defects

Ibtessam R. Hussein, Adeel G. Chaudhary, Rima S Bader, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans Schulten, Mohamed Nabil Alama, Mohammad H. Al Qahtani

P65 Toxocogenetic evaluation of 1, 2-Dichloroethane in bone marrow, blood and cells of immune system using conventional, molecular and flowcytometric approaches

Mohammad I Lone, Nazia Nizam, Waseem Ahmad, Mohammad A Jafri, Mahmood Rasool, Shakeel A Ansari, Muhammed H Al-Qahtani

P66 Molecular cytogenetic diagnosis of sexual development disorders in newborn: A case of ambiguous genitalia

Eradah Alshihri, Muhammad Abu-Elmagd, Lina Alharbi, Mourad Assidi, Mohammed Al-Qahtani

P67 Identification of disease specific gene expression clusters and pathways in hepatocellular carcinoma using In Silico methodologies

Shilu Mathew, Peter Pushparaj Natesan, Muhammed Al Qahtani

P68 Human Wharton’s Jelly stem cell conditioned medium inhibits primary ovarian cancer cells in vitro: Identification of probable targets and mechanisms using systems biology

Gauthaman Kalamegam, Peter Natesan Pushparaj, Fazal Khan, Roaa Kadam, Farid Ahmed, Mourad Assidi, Khalid Hussain Wali Sait, Nisreen Anfinan, Mohammed Al Qahtani

P69 Mutation spectrum of ASPM (Abnormal Spindle-like, Microcephaly-associated) gene in Saudi Arabian population

Muhammad I Naseer, Adeel G Chaudhary, Mohammad S Jamal, Shilu Mathew, Lobna S Mira, Peter N Pushparaj, Shakeel A Ansari, Mahmood Rasool, Mohammed H AlQahtani

P70 Identification and characterization of novel genes and mutations of primary microcephaly in Saudi Arabian population

Muhammad I Naseer, Adeel G Chaudhary, Shilu Mathew, Lobna S Mira, Mohammad S Jamal, Sameera Sogaty, Randa I Bassiouni, Mahmood Rasool, Mohammed H AlQahtani

P71 Molecular genetic analysis of hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Saudi Arabian population

Mahmood Rasool, Shakeel A Ansari, Mohammad S Jamal, Peter N Pushparaj, Abdulrahman MS Sibiani, Waseem Ahmad, Abdelbaset Buhmeida, Mohammad A Jafri, Mohiuddin K Warsi, Muhammad I Naseer, Mohammed H Al-Qahtani

P72 Function predication of hypothetical proteins from genome database of chlamydia trachomatis

Rubi, Kundan Kumar, Ahmad AT Naqvi, Faizan Ahmad, Md I Hassan, Mohammad S Jamal, Mahmood Rasool, Mohammed H AlQahtani

P73 Transcription factors as novel molecular targets for skin cancer

Ashraf Ali, Jummanah Jarullah, Mahmood Rasool, Abdelbasit Buhmeida, Shahida Khan, Ghufrana Abdussami, Maryam Mahfooz, Mohammad A Kamal, Ghazi A Damanhouri, Mohammad S Jamal

P74 An In Silico analysis of Plumbagin binding to apoptosis executioner: Caspase-3 and Caspase-7

Bushra Jarullah, Jummanah Jarullah, Mohammad SS Jarullah, Ashraf Ali, Mahmood Rasool, Mohammad S Jamal

P75 Single cell genomics applications for preimplantation genetic screening optimization: Comparative analysis of whole genome amplification technologies

Mourad Assidi, Muhammad Abu-Elmagd, Osama Bajouh, Peter Natesan Pushparaj, Mohammed Al-Qahtani, Adel Abuzenadah

P76 ZFP36 regulates miRs-34a in anti-IgM triggered immature B cells

Mohammad S Jamal, Jummanah Jarullah, Abdulah EA Mathkoor, Hashim MA Alsalmi, Anas MM Oun, Ghazi A Damanhauri, Mahmood Rasool, Mohammed H AlQahtani

P77 Identification of a novel mutation in the STAMBP gene in a family with microcephaly-capillary malformation syndrome

Muhammad I. Naseer, Mahmood Rasool, Sameera Sogaty, Adeel G. Chudhary, Yousif A. Abutalib, Daniele Merico, Susan Walker, Christian R. Marshall, Mehdi Zarrei, Stephen W. Scherer, Mohammad H. Al-Qahtani

P78 Copy number variations in Saudi patients with intellectual disability and epilepsy

Muhammad I. Naseer, Muhammad Faheem, Adeel G. Chaudhary, Mahmood Rasool, Gauthaman Kalamegam, Fai Talal Ashgan, Mourad Assidi, Farid Ahmed, Syed Kashif Zaidi, Mohammed M. Jan, Mohammad H. Al-Qahtani

P79 Prognostic significance of CD44 expression profile in colorectal carcinoma

Maryam Al-Zahrani, Sahira Lary, Sahar Hakamy, Ashraf Dallol, Mahmoud Al-Ahwal, Jaudah Al-Maghrabi, Emmanuel Dermitzakis, Adel Abuzenadah, Abdelbaset Buhmeida, Mohammed Al-Qahtani

P80 Association of the endothelial nitric oxide synthase (eNOS) gene G894T polymorphism with hypertension risk and complications

Abeer A Al-refai, Mona Saleh, Rehab I Yassien, Mahmmoud Kamel, Rabab M Habeb

P81 SNPs array to screen genetic variation among diabetic patients

Najlaa Filimban, Ashraf Dallol, Nadia Ghannam, Mohammed Al-Qahtani, Adel Mohammed Abuzenadah

P82 Detection and genotyping of Helicobacter pylori among gastric cancer patients from Saudi Arabian population

Fehmida Bibi, Sana Akhtar, Esam I. Azhar, Muhammad Yasir, Muhammad I. Nasser, Asif A. Jiman-Fatani, Ali Sawan

P83 Antimicrobial drug resistance and molecular detection of susceptibility to Fluoroquinolones among clinical isolates of Salmonella species from Jeddah-Saudi Arabia

Ruaa A Lahzah, Asho Ali

P84 Identification of the toxic and virulence nature of MAP1138c protein of Mycobacterium avium subsp. paratuberculosis

Syed A Hassan, Seyed E Hasnain, Iftikhar A Tayubi, Hamza A Abujabal, Alaa O Magrabi

P85 In vitro and in silico evaluation of miR137 in human breast cancer

Fazal Khan, Gauthaman Kalamegam, Peter Natesan Pushparaj, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour, Mohammed Al-Qahtani

P86 Auruka gene is over-expressed in Saudi breast cancer

Manal Shabaad, Shilu Mathew, Ashraf Dallol, Adnan Merdad, Abdelbaset Buhmeida, Mohammed Al-Qahtani

P87 The potential of immunogenomics in personalized healthcare

Mourad Assidi, Muhammad Abu-Elmagd, Kalamegam Gauthaman, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Peter Natesan Pushparaj, Mohammed Al-Qahtani

P88 In Silico physiochemical and structural characterization of a putative ORF MAP0591 and its implication in the pathogenesis of Mycobacterium paratuberculosis in ruminants and humans

Syed A Hassan, Iftikhar A Tayubi, Hani MA Aljahdali

P89 Effects of heat shock on human bone marrow mesenchymal stem cells (BM-MSCs): Implications in regenerative medicine

Reham Al Nono, Mamdooh Gari, Haneen Alsehli, Farid Ahmed, Mohammed Abbas, Gauthaman Kalamegam, Mohammed Al-Qahtani

P90 In Silico analyses of the molecular targets of Resveratrol unravels its importance in mast cell mediated allergic responses

Shilu Mathew, Fazal Khan, Mahmood Rasool, Mohammed Sarwar Jamal, Muhammad Imran Naseer, Zeenat Mirza, Sajjad Karim, Shakeel Ansari, Mourad Assidi, Gauthaman Kalamegam, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Peter Natesan Pushparaj, Mohammed Al-Qahtani

P91 Effects of environmental particulate matter on bone-marrow mesenchymal stem cells

Muhammad Abu-Elmagd, Gauthaman Kalamegam, Roaa Kadam, Mansour A Alghamdi, Magdy Shamy, Max Costa, Mamdouh I Khoder, Mourad Assidi, Peter Natesan Pushparaj, Mamdooh Gari, Mohammed Al-Qahtani

P92 Distinctive charge clusters in human virus proteomes

Najla Kharrat, Sabrine Belmabrouk, Rania Abdelhedi, Riadh Benmarzoug, Mourad Assidi, Mohammed H. Al Qahtani, Ahmed Rebai

P93 In vitro experimental model and approach in identification of new biomarkers of inflammatory forms of arthritis

Ghazi Dhamanhouri, Peter Natesan Pushparaj, Abdelwahab Noorwali, Mohammad Khalid Alwasiyah, Afnan Bahamaid, Saadiah Alfakeeh, Aisha Alyamani, Haneen Alsehli, Mohammed Abbas, Mamdooh Gari, Ali Mobasheri, Gauthaman Kalamegam, Mohammed Al-Qahtani

P94 Molecular docking of GABAA receptor subunit γ-2 with novel anti-epileptic compounds

Muhammad Faheem, Shilu Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani

P95 Breast cancer knowledge, awareness, and practices among Saudi females residing in Jeddah

Shilu Mathew, Muhammad Faheem, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani

P96 Anti-inflammatory role of Sesamin by Attenuation of Iba1/TNF-α/ICAM-1/iNOS signaling in Diabetic Retinopathy

Mohammad Sarwar Jamal, Syed Kashif Zaidi, Raziuddin Khan, Kanchan Bhatia, Mohammed H. Al-Qahtani, Saif Ahmad

P97 Identification of drug lead molecule against vp35 protein of Ebola virus: An In-Silico approach

Iftikhar AslamTayubi, Manish Tripathi, Syed Asif Hassan, Rahul Shrivastava

P98 An approach to personalized medicine from SNP-calling through disease analysis using whole exome-sequencing of three sub-continental populations

Iftikhar A Tayubi, Syed Hassan, Hamza A.S Abujabal

P99 Low versus high frequency of Glucose –6 – Phosphate Dehydrogenase (G6PD) deficiency in urban against tribal population of Gujarat – A signal to natural selection

Ishani Shah, Bushra Jarullah, Mohammad S Jamal, Jummanah Jarullah

P100 Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update

Ishfaq A Sheikh, Ejaz Ahmad, Mohammad S Jamal, Mohd Rehan, Muhammad Abu-Elmagd, Iftikhar A Tayubi, Samera F AlBasri, Osama S Bajouh, Rola F Turki, Adel M Abuzenadah, Ghazi A Damanhouri, Mohd A Beg, Mohammed Al-Qahtani

P101 Prevalence of congenital heart diseases among Down syndrome cases in Saudi Arabia: role of molecular genetics in the pathogenesis

Sahar AF Hammoudah, Khalid M AlHarbi, Lama M El-Attar, Ahmed MZ Darwish

P102 Combinatorial efficacy of specific pathway inhibitors in breast cancer cells

Sara M Ibrahim, Ashraf Dallol, Hani Choudhry, Adel Abuzenadah, Jalaludden Awlia, Adeel Chaudhary, Farid Ahmed, Mohammed Al-Qahtani

P103 MiR-143 and miR-145 cluster as potential replacement medicine for the treatment of cancer

Mohammad A Jafri, Muhammad Abu-Elmagd, Mourad Assidi, Mohammed Al-Qahtani

P104 Metagenomic profile of gut microbiota during pregnancy in Saudi population

Imran khan, Muhammad Yasir, Esam I. Azhar, Sameera Al-basri, Elie Barbour, Taha Kumosani

P105 Exploration of anticancer targets of selected metabolites of Phoenix dactylifera L. using systems biological approaches

Fazal Khan, Gauthaman Kalamegam, Peter Natesan Pushparaj, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour

P106 CD226 and CD40 gene polymorphism in susceptibility to Juvenile rheumatoid arthritis in Egyptian patients

Heba M. EL Sayed, Eman A. Hafez

P107 Paediatric exome sequencing in autism spectrum disorder ascertained in Saudi families

Hans-Juergen Schulten, Aisha Hassan Elaimi, Ibtessam R Hussein, Randa Ibrahim Bassiouni, Mohammad Khalid Alwasiyah, Richard F Wintle, Adeel Chaudhary, Stephen W Scherer, Mohammed Al-Qahtani

P108 Crystal structure of the complex formed between Phospholipase A2 and the central core hydrophobic fragment of Alzheimer’s β- amyloid peptide: a reductionist approach

Zeenat Mirza, Vikram Gopalakrishna Pillai, Sajjad Karim, Sujata Sharma, Punit Kaur, Alagiri Srinivasan, Tej P Singh, Mohammed Al-Qahtani

P109 Differential expression profiling between meningiomas from female and male patients

Reem Alotibi, Alaa Al-Ahmadi, Fatima Al-Adwani, Deema Hussein, Sajjad Karim, Mona Al-Sharif, Awatif Jamal, Fahad Al-Ghamdi, Jaudah Al-Maghrabi, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Hans-Juergen Schulten, Mohammed Al-Qahtani

P110 Neurospheres as models of early brain development and therapeutics

Muhammad Faheem, Peter Natesan Pushparaj, Shilu Mathew, Taha Abdullah Kumosani, Gauthaman Kalamegam, Mohammed Al-Qahtani

P111 Identification of a recurrent causative missense mutation p.(W577C) at the LDLR exon 12 in familial hypercholesterolemia affected Saudi families

Faisal A Al-Allaf, Zainularifeen Abduljaleel, Abdullah Alashwal, Mohiuddin M. Taher, Abdellatif Bouazzaoui, Halah Abalkhail, Faisal A. Ba-Hammam, Mohammad Athar

P112 Epithelial ovarian carcinoma (EOC): Systems oncological approach to identify diagnostic, prognostic and therapeutic biomarkers

Gauthaman Kalamegam, Peter Natesan Pushparaj, Muhammad Abu-Elmagd, Farid Ahmed Khalid HussainWali Sait, Nisreen Anfinan, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Mourad Assidi, Mohammed Al-Qahtani

P113 Crohn’s disease phenotype in northern Tunisian population

Naira Ben Mami, Yosr Z Haffani, Mouna Medhioub, Lamine Hamzaoui, Ameur Cherif, Msadok Azouz

P114 Establishment of In Silico approaches to decipher the potential toxicity and mechanism of action of drug candidates and environmental agents

Gauthaman Kalamegam, Fazal Khan, Shilu Mathew, Mohammed Imran Nasser, Mahmood Rasool, Farid Ahmed, Peter Natesan Pushparaj, Mohammed Al-Qahtani

P115 1q Gain predicts poor prognosis marker for young breast cancer patients

Shereen A Turkistany, Lina M Al-harbi, Ashraf Dallol, Jamal Sabir, Adeel Chaudhary, Adel Abuzenadah

P116 Disorders of sex chromosomes in a diagnostic genomic medicine unit in Saudi Arabia: Prevalence, diagnosis and future guidelines

Basmah Al-Madoudi, Bayan Al-Aslani, Khulud Al-Harbi, Rwan Al-Jahdali, Hanadi Qudaih, Emad Al Hamzy, Mourad Assidi, Mohammed Al Qahtani

P117 Combination of WYE354 and Sunitinib demonstrate synergistic inhibition of acute myeloid leukemia in vitro

Asad M Ilyas, Youssri Ahmed, Mamdooh Gari, Farid Ahmed, Mohammed Alqahtani

P118 Integrated use of evolutionary information in GWAS reveals important SNPs in Asthma

Nada Salem, Sajjad Karim, Elham M Alhathli, Heba Abusamra, Hend F Nour Eldin, Mohammed H Al-Qahtani, Sudhir Kumar

P119 Assessment of BRAF, IDH1, IDH2, and EGFR mutations in a series of primary brain tumors

Fatima Al-Adwani, Deema Hussein, Mona Al-Sharif, Awatif Jamal, Fahad Al-Ghamdi, Jaudah Al-Maghrabi, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Mohammed Al-Qahtani, Hans-Juergen Schulten

P120 Expression profiles distinguish oligodendrogliomas from glioblastoma multiformes with or without oligodendroglioma component

Alaa Alamandi, Reem Alotibi, Deema Hussein, Sajjad Karim, Jaudah Al-Maghrabi, Fahad Al-Ghamdi, Awatif Jamal, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Hans-Juergen Schulten, Mohammed Al-Qahtani

P121 Hierarchical clustering in thyroid goiters and hyperplastic lesions

Ohoud Subhi, Nadia Bagatian, Sajjad Karim, Adel Al-Johari, Osman Abdel Al-Hamour, Hosam Al-Aradati, Abdulmonem Al-Mutawa, Faisal Al-Mashat, Jaudah Al-Maghrabi, Hans-Juergen Schulten, Mohammad Al-Qahtani

P122 Differential expression analysis in thyroiditis and papillary thyroid carcinomas with or without coexisting thyroiditis

Nadia Bagatian, Ohoud Subhi, Sajjad Karim, Adel Al-Johari, Osman Abdel Al-Hamour, Abdulmonem Al-Mutawa, Hosam Al-Aradati, Faisal Al-Mashat, Mohammad Al-Qahtani, Hans-Juergen Schulten, Jaudah Al-Maghrabi

P123 Metagenomic analysis of waste water microbiome in Sausdi Arabia

Muhammad W shah, Muhammad Yasir, Esam I Azhar, Saad Al-Masoodi

P124 Molecular characterization of Helicobacter pylori from faecal samples of Tunisian patients with gastric cancer

Yosr Z Haffani, Msadok Azouz, Emna Khamla, Chaima Jlassi, Ahmed S. Masmoudi, Ameur Cherif, Lassaad Belbahri

P125 Diagnostic application of the oncoscan© panel for the identification of hereditary cancer syndrome

Shadi Al-Khayyat, Roba Attas, Atlal Abu-Sanad, Mohammed Abuzinadah, Adnan MerdadAshraf Dallol, Adeel Chaudhary, Mohammed Al-Qahtani, Adel Abuzenadah

P126 Characterization of clinical and neurocognitive features in a family with a novel OGT gene missense mutation c. 1193G > A/ (p. Ala319Thr)

Habib Bouazzi, Carlos Trujillo, Mohammad Khalid Alwasiyah, Mohammed Al-Qahtani

P127 Case report: a rare homozygous deletion mutation of TMEM70 gene associated with 3-Methylglutaconic Aciduria and cataract in a Saudi patient

Maha Alotaibi, Rami Nassir

P128 Isolation and purification of antimicrobial milk proteins

Ishfaq A Sheikh, Mohammad A Kamal, Essam H Jiffri, Ghulam M Ashraf, Mohd A Beg

P129 Integrated analysis reveals association of ATP8B1 gene with colorectal cancer

Mohammad A Aziz, Rizwan Ali, Mahmood Rasool, Mohammad S Jamal, Nusaibah samman, Ghufrana Abdussami, Sathish Periyasamy, Mohiuddin K Warsi, Mohammed Aldress, Majed Al Otaibi, Zeyad Al Yousef, Mohamed Boudjelal, Abdelbasit Buhmeida, Mohammed H Al-Qahtani, Ibrahim AlAbdulkarim

P130 Implication of IL-10 and IL-28 polymorphism with successful anti-HCV therapy and viral clearance

Rubi Ghazala, Shilu Mathew, M. Haroon Hamed, Mourad Assidi, Mohammed Al-Qahtani, Ishtiaq Qadri

P131 Interactions of endocrine disruptor di-(2-ethylhexyl) phthalate (DEHP) and its metabolite mono-2-ethylhexyl phthalate (MEHP) with progesterone receptor

Ishfaq A Sheikh, Muhammad Abu-Elmagd, Rola F Turki, Ghazi A Damanhouri, Mohd A. Beg

P132 Association of HCV nucleotide polymorphism in the development of hepatocellular carcinoma

Mohd Suhail, Abid Qureshi, Adil Jamal, Peter Natesan Pushparaj, Mohammad Al-Qahtani, Ishtiaq Qadri

P133 Gene expression profiling by DNA microarrays in colon cancer treated with chelidonine alkaloid

Mahmoud Z El-Readi, Safaa Y Eid, Michael Wink

P134 Successful in vitro fertilization after eight failed trials

Ahmed M. Isa, Lulu Alnuaim, Johara Almutawa, Basim Abu-Rafae, Saleh Alasiri, Saleh Binsaleh

P135 Genetic sensitivity analysis using SCGE, cell cycle and mitochondrial membrane potential in OPs stressed leukocytes in Rattus norvegicus through flow cytometric input

Nazia Nazam, Mohamad I Lone, Waseem Ahmad, Shakeel A Ansari, Mohamed H Alqahtani

O1 Regulation of genes by telomere length over long distances

Jerry W. Shay

University of Texas Southwestern Medical Center, Dallas, Texas, USA

The ends of linear chromosomes are called telomeres that resemble broken DNA. However, the telomeres are protected from the DNA damage responses due to the formation of a looping structure (T-loop) and by “capping” the telomeres with a series of shelterin proteins. It is generally thought the main, if not only, function of telomeres is protection from DNA damage responses. When telomeres get very short due to normal replicative aging, cells stop dividing due to loss of the telomere end protective functions. We have previously reported that telomeres may also have additional functions in human cells. Telomeres are characterized by a distinct chromatin structure with spreading of heterochromatin into the subtelomeric regions, but little is known about the chromatin conformation of human telomeres. We have previously shown, using a luciferase reporter introduced into telomeres, that there is a 10-fold decreased expression of the reporter compared to the reporter introduced into internal genomic loci. This phenomenon is known as Telomere Position Effects (TPE). We have also found that a human gene, interferon stimulating gene 15 (ISG15), (~1 M base pairs from the 1p36.33 telomere) is silenced in young cells with long telomerase, upregulated in cells with short telomeres and silenced again in old cells with experimentally hTERT (telomerase) elongated telomeres. However, we observed genes between ISG15 and the telomere are not regulated by classic telomere position effects (TPE). To distinguish this type of telomere length dependent regulation of gene expression from classic TPE, we have termed this type of regulation Telomere Position Effects Over Long Distances (TPE-OLD). We discovered using 3D co-FISH and a modification of Hi-C (chromosome capture followed by high-throughput sequencing), that there are a significant number of genes within the first 10 M bases distal to the telomere on many chromosomes regulated by telomere length with genes closer to the telomere not being regulated by TPE.

O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy

Noriko Homma1, Ruyun Zhou1, Muhammad Imran Naseer2, Adeel G. Chaudhary2, Mohammed Al-Qahtani2, Nobutaka Hirokawa1,2

1Department of Cell Biology and Anatomy, Graduate School of Medicine, the University of Tokyo, Tokyo 113-0033, Japan; 2Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, 21589, Saudi Arabia

Correspondence: Nobutaka Hirokawa (hirokawa@m.u-tokyo.ac.jp) – Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, 21589, Saudi Arabia

Kinesin super family protein 2A (KIF2A) is an ATP-dependent microtubule destabilizer, that belongs to the kinesin-13 family. It is highly expressed in juvenile brains, but its postnatal function has not been determined due to mortality in KIF2A-deficient mice. In addition, KIF2A is a causal gene in human Malformation of Cortical Development (MCD) with epilepsy, but the contribution of KIF2A to its pathogenesis is not yet understood due to the small number of human patients. In this study, we first analyzed the prenatal function of KIF2A using kif2a-KO mice. These mice were pale, breathed irregularly, and exhibited frequent twitching in addition to malformations resembling those in kif2a-mutated human patients. To determine the post-migration function of KIF2A, we generated newly tamoxifen-inducible conditional knockout mice. Despite successful neuronal migration, all offspring displayed hyper-activity, weight loss, severe cortical/hippocampal-focus epilepsy, and died. Interestingly, KIF2A was highly expressed in excitatory axons, in cortical neurites in layers II/III/V and in dentate mossy fibers (MF). In the cortex, the loss of KIF2A generated aberrant axon sprouting in those layers. In the hippocampus, the loss of KIF2A resulted in the development of hippocampal sclerosis, MF sprouting, and recurrent excitatory circuits resembling but different from TLE. These phenotypes developed without excitation. cKO granule cells exhibited failed axon/dendrite determination, and developed multiple short axons throughout the entire molecular layer. These results suggest that KIF2A is crucial postnatally for establishing accurate neuronal circuits, in addition to its role in prenatal cell survival, migration, and axon elongation.

O3 Integration of metagenomics and metabolomics in gut microbiome research

Maryam Goudarzi1 and Albert J. Fornace Jr.1,2,3,4

1Department of Biochemistry and Molecular & Cellular Biology, Lombardi Comprehensive Cancer Center. Georgetown University, Washington, DC, USA; 2Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA; 3Department of Radiation Medicine, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA; 4Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, KSA

Correspondence: Albert J. Fornace Jr. (af294@georgetown.edu) – Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, KSA

The gut is the largest reservoir of microbes in the body, harboring more than 100 trillion microorganisms in a well-balanced communication with the host factors. The gut microbiota plays an essential role in a wide range of biological functions such as digestion and the development of immunological responses. The microbial community composition and diversity is important in maintaining the homeostatis in the host. Factors, which may influence the gut microbial composition include diet, environmental exposures, age, genetics, and many more. Recent advances in technology, particularly 16S rRNA sequencing and mass spectrometry have enabled us to survey these microbial communities at the phylogenetic level and assess the host/microbes co-metabolism. The metagenomic studies have shed light on the functional composition of the gut microbiota and have determined that in diseases such as inflammatory bowel disease (IBD) there is an increase in functions of the auxotrophic and pathobiont bacteria. A number of studies have also pointed to an increase in the sulfate-reducing bacteria, such as Desulfovibrio, in IBD. On the other hand, metabolomics studies have revealed that taurine-conjugated bile acids increase the availability of free sulfur causing an expansion of the sulfate-reducing pathobiont Bilophila wadsworthia, which drive colitis in genetically susceptible IL10 −/− but not wild-type mice. Furthermore, an increased in glutathione transport and riboflavin metabolism and a decrease in biosynthesis of amino acids have been reported in ulcerative colitis patients, which is indicative of increased predisposition for managing oxidative stress, a hallmark of an inflammatory environment. Our current studies have explored the correlative nature of the microbe/host co-metabolism to characterize the regulatory role of microbiota in maintaining host health. These correlative host/microbial studies have the potential to determine causality, response to treatment, risk prediction, and keystone species for use as probiotics in diseases such as IBD or colitis induced by immuno-radiotherapy.

O4 A unique integrated system to discern pathogenesis of central nervous system tumors

Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani and Ghazi Damanhouri

King Fahd Medical Research Centre, King Abdulaziz University, Jeddah, Saudi Arabia

Correspondence: Deema Hussain (deemah@hotmail.com) – King Fahd Medical Research Centre, King Abdulaziz University, Jeddah, Saudi Arabia

Central Nervous System Tumors (CNST) are a collection of neoplasms that grow in the brain and the spinal cord. Long term survival for patients carrying these tumors can reach at best 14 % in countries that provide optimal health operating systems. Despite advancement in cancer targeted therapy, surgery and radiation remain typically the main methods of treatment, even though both are challenging and may affect the quality of life of survivors adversely. Inventive approaches and deeper comprehensions of tumor characteristics are needed to transform treatment options for CNST patients. We established a unique integrated system to enable analysis of multiple bio-parameters of individual CNST. Each sample recovered was prepared to preserve tissue and generate a corresponding cell line with a purpose to process for genetic, biochemical, cytological and pharmacological analysis. A collection of 84 tumors were recovered, with a wide range of tumor types including Meningiomas, Astrocytomas, Oligodendrogliomas, Medulloblastomas and Glioblastomas. Generating a tumor type combined outlook facilitated access to vital information, as exemplified by the analysis of sixteen primary Meningiomas. Investigating the gene expression profile of uncultured tumors samples while considering the live cell behavior in relation to morphology, growth, stemness and sensitivity to chemotherapy, enabled the identification of possible novel prognostic markers for Meningiomas, including the recently associated cancer stem cell marker Anterior Gradient 2 Homolog (AGR2). This integrated analysis approach is critical for the development of safe, efficacious and potent targeted therapeutic modalities.

O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis

Heba Alkhatabi

Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia

Myelodysplasia with monosomy 7 or deletion 7q has a dismal prognosis and high propensity for leukaemic transformation. The exact pathogenesis of these disorders remains elusive. We investigated functional consequences of deletion of microRNAs (miRNAs) residing on chromosome 7q, focusing on miR-595. Using a novel assay, several targets for miR-595 were identified, including a large ribosomal subunit RPL27A. RPL27A downregulation induced p53 activation, apoptosis and inhibited proliferation. Importantly, p53-independent effects were identified secondary to a reduction in the ribosome subunit 60s with associated ribosome dysgenesis. Of note, RPL27A overexpression showed no significant effects on p53 mRNA levels but did enhance proliferation. In normal CD34+ cells, RPL27A knockdown preferentially blocked erythroid proliferation and differentiation. Lastly, miR-595 appears significantly downregulated in MDS patient samples possessing -7/-7q anomalies compared to those with normal karyotype. We postulate that haploinsufficency of miR-595 in patients with -7/del 7q may contribute to disease pathogenesis via RPL27A modulation.

O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service

Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp

Sheffield Diagnostic Genetic Service, Sheffield Children’s NHS Foundation Trust, Western Bank, Sheffield, UK

Correspondence: Anne Goodeve (a.goodeve@sheffield.ac.uk) – Sheffield Diagnostic Genetic Service, Sheffield Children’s NHS Foundation Trust, Western Bank, Sheffield, UK

Next Generation sequencing (NGS) is transforming delivery of diagnostic molecular genetics. Gene panels are being utilised to analyse groups of related disorders and to extend diagnostic capability in comparison with previous Sanger sequencing. The aim of this study is to examine the utility of gene panels for diagnostic/research NGS analysis of haemostatic and platelet disorders and for Fanconi anaemia. Requests were received for all but one (F5) genes on the haemostasis/platelet panel. Candidate pathogenic mutations were identified in 24 of 39 patients (62 %), including 15/16 males diagnosed with haemophilia A and 3/7 individuals with possible von Willebrand disease. Some analyses (e.g. ADAMTS13, MYH9, VWF) were requested to help exclude specific diagnoses. In addition to analysis of single genes, combinations were analysed simultaneously, e.g. F8 & F9 (possible carrier relative of deceased haemophilia patient; unknown type); F8, F9, F13A1, F13B and VWF (baby died of bleeding shortly after birth), F8 & VWF (low FVIII:C). In contrast, nearly all patients referred for FA analysis were seeking a diagnosis of the disorder and all 16 genes were analysed in most individuals investigated (15/19). Biallelic mutations were identified in 7 cases (33 %) in BRCA2, FANCA, FANCC, FANCD2 and FANCG. A single heterozygous mutation was identified in 2 patients (13 %), 2 heterozygous mutations in different genes in 1 case (7 %), homozygous mutations in 2 (13 %) and no mutation in 5 (33 %). We can conclude that NGS provides a single laboratory workflow for analysis of gene panels for related disorders as well as for whole genomes/exomes. Data analysis can include a single gene, such as ADAMTS13, or ≥ 1 gene for disorders such as those affecting fibrinogen. For disorders potentially caused by one of the several genes in a pathway such as FA, all can be analysed simultaneously. Use of NGS provides a single laboratory workflow for analysis of gene panels for many different disorders and can dramatically reduce time to achieve a definitive diagnosis.

O7 Targeted sequencing panels and their utilization in personalized medicine

Adel M. Abuzenadah

Center of Innovations in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

Several milestones have to be achieved in order to introduce the concept of personalized medicine to the healthcare system in Saudi Arabia. There is a notable lack of publicly available information about the “normal” genetic makeup of this population which is hindering the complete elucidation of “disease” genomes. Therefore, it is important that considerable effort should be spent on the identification of the genetic and epigenetic risk factors that predispose to the common diseases in the Kingdom of Saudi Arabia. Knowledge gained will help in the elucidation of disease biomarkers and drug response modifiers. Furthermore, providers of personalized medicine should validate internationally-approved biomarkers and risk factor indicators for use in the Kingdom of Saudi Arabia. Most importantly, genetic tests offered to the public should be designed to be cost-effective without compromising sensitivity or specificity and with fast turnaround amenable to use in the clinic. Towards this end, we at the Center of Innovations in Personalized Medicine (CIPM) at King Abdulaziz University are utilizing the robustness of the Ion Torrent Personal Genome Machine to design genetic tests for afflictions common to the Kingdom of Saudi Arabia. We have designed and tested custom Ampliseq panels as well as used panels from the Life Technologies catalog. Our array of targeted sequencing panel now covers conditions such as deafness, beta-thalassemia, thrombophilia, inborn errors of metabolism, and cancer susceptibility. We will report on the progress achieved so far and discuss the future of such platform in the delivery of individualized diagnostics.

O8 International biobanking in the era of precision medicine

Jim Vaught

President, ISBER, Editor-in-Chief, Biopreservation & Biobanking, USA

Biospecimens are collected from patients and other donors in a variety of ways for basic, clinical and epidemiologic research studies. Methods for collecting, processing, storing and analyzing biospecimens have usually been developed locally for diagnostic and research purposes, with little consideration for standardization or long-term quality management. Biospecimen management has developed into a more scientifically-based endeavor, as researchers have realized that biospecimens and data of consistent quality are required as we enter the era of precision medicine.

Best practices have been developed by organizations such as the International Society for Biological and Environmental and Repositories (ISBER), the U.S. National Cancer Institute (NCI), the International Agency for Research on Cancer (IARC) and the European Organization for Economic Cooperation and Development (OECD). Biospecimen research programs have been developed to establish evidence-based standard procedures to control the collection and processing of biospecimens. Molecular data from the analysis of biospecimens contribute directly to the diagnosis of disease and treatment of patients. Various “pre-analytical” variables can affect the quality of biospecimens. Among these variables are: the amount of time that it takes for surgical removal of the biospecimen; the time the specimen spends at room temperature before it is frozen or fixed with formalin; and many other variables that can affect biospecimen quality. There is the potential for: incorrect diagnoses; incorrect treatment; irreproducible results; and overall the potential for misinterpretation of artifacts as new biomarkers. The adoption of best practices for biospecimen collection and processing is an important part of the strategy to advance translational research and precision medicine. These practices should include:
  • Governance models with clearly stated technical standards, ethical guidelines, access policies and procedures, scientific rationale, and long-term custodianship plans.

  • A strong quality management program with clearly defined standard operating procedures, and regular audits to assure compliance.

  • A comprehensive business model that has a sustainable cost-recovery plan, or a plan to assure consistent long-term financial support.

  • In general, adherence to a set of best practices governing both technical and ethical/legal issues.

The future development of international collaboration in biobanking will require cooperation among various nations to standardize and harmonize their biospecimen practices.

O9 Biobank and biodata for clinical and forensic applications

Bruce Budowle1,2, Mourad Assidi2, Abdelbaset Buhmeida2

1Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, Fort Worth, TX 76107, USA; 2Center of Excellence in G