Precision Medicine and Functional Genomics 2023

Main Conference Agenda

November 11-14, 2023

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Overview /Main Conference Agenda


11 November 2023

12 pm -1 pm Registration/Check-in
Time Speaker Talk Title
1:00 – 1:05 pm Drs. Bernice Lo, Matteo Avella, PMFG 2023 Chairs

Dr. Khalid Fakhro, Chief Research Officer, Sidra Medicine

Opening remarks
1:05 – 1:10 pm Dr. Salih Al Marri, Asst. Minister for Health, Ministry of Public Health Opening remarks
1:10 pm Afternoon Session: A Global Precision Medicine Endeavor: The Qatar Genome and Major Sequencing Programs from the MENA Region for Unraveling and Mapping Human’s Genetic Diversity.

Learning objectives:

§ Gain insights into the significance and impact of national genomic projects.

§ Explore how biobank-based research and large-scale genetic studies uncover causal relationships within Middle Eastern genetic variation, revealing novel disease mechanisms and informing healthcare practices.

§ Discover the latest advancements in regenerative medicine, computational methods for interpreting genomic variants in rare genetic diseases, and the role of genomic screening in identifying individuals at risk of diseases.

Session Chairs: Drs. Omar Albagha (A/Executive Director, Qatar Biomedical Research Institute (QBRI) & Hamdi Mbarek (Scientific and Industry Partnerships Manager, Qatar Genome Programme)

1:10-2:00 pm Sir Professor Mark Caulfield (Vice Principal for Health Queen Mary University of London; Professor of Clinical Pharmacology, Faculty of Medicine and Dentistry; Director of the NIHR Barts Biomedical Research Centre) Keynote Lecture: Transforming Genomics in Healthcare: Lessons Learned from the 100,000 Genomes Project
2:00-2:15 pm Dr. Said Ismail (Director, Qatar Genome Programme, Qatar) Qatar Genome, a National Enabler of Precision Medicine
2:15-2:30 pm Dr. Younes Mokrab (A/Director of Human Genetics Department, Sidra Medicine, Qatar) A biobank catalogue of transcriptomes and associated genetic effects based on 2,000 subjects uncovers the causal effects of Middle Eastern genetic variation and uncovers novel disease mechanisms
2:30-2:45 pm Dr. Imane M Boudellioua (Assistant Professor, Information and Computer Science Department, King Fahd University of Petroleum and Minerals, Saudi Arabia) Phenotype-driven Computational Methods for Interpreting Genomic Variants in Rare Genetic Diseases
2:45-3:00 pm Dr. Maryam Mohamed Fatima Matar MD PhD (Founder and Chairperson, UAE Genetic Diseases Association – United Arab Emirates) Regenerative Medicine
3:00-3:15 pm Dr. Jassim Mohammed Al Suwaidi (Chief of Scientific, Academic and Faculty Affairs, Hamad Medical Corporation, Doha, Qatar) Cardiovascular Genomics in Qatar
3:15-3:30 pm Dr. Fahad Al Zadjali (Director, Center of Studies and Research, Ministry of Health, Oman) Genomic screening reveal people with Dyslipidemia and at risk of cardiovascular disease
3:30-4:00 pm Coffee break
4:00 pm Evening Session: Sidra’s Clinical Research Programs.

Learning objectives:

§ Gain insights into the breadth and depth of Sidra Medicine’s clinical research programs.

§ Explore the achievements and real-world impact of Sidra Medicine’s programs, with a focus on genetic and metabolic disorders, cancer, fertility/pregnancy complications, immune dysregulation, and neurological disorders.

§ Learn about the strategies and approaches employed by Sidra Medicine in the successful implementation and management of healthcare programs across various domains.

Session Chairs: Drs. Souhaila Al Khodor (Director, Division of Reproductive & Perinatal Health, Sidra Medicine) & Ibrahim Janahi (Division Chief, Pulmonology, Sidra Medicine)


Time Speaker Talk Title
4:00-4:05 pm Dr. Khalid Fakhro (Chief Research Officer, Sidra Medicine) Introduction to Sidra Medicine clinical research programs
4:05-4:20 pm Drs. Ammira Akil & Tawfeg Omran Genetic and metabolic disorders program
4:20-4:35 pm Drs. Cristina Maccali & Ayman Saleh Cancer program
4:35-4:50 pm Drs. Annalisa Terranegra & Spyridon Chouliaras Fertility and pregnancy complications program
4:50-5:05 pm Drs. Bernice Lo & Mohammed Yousuf Karim Immune dysregulation program
5:05-5:20 pm Drs. Ruba Benini & Younes Mokrab Neurological disorders program
5:20-5:30 pm Drs. Souhaila Al Khodor (Sidra Medicine) & Ibrahim Janahi (Sidra Medicine) Closing remarks
5:30-8:00 pm End of day 1 – Dinner – Nibbling & Networking: Unwind and Connect

12 November 2023


8:00 am

Morning Session: The Power of Precision Medicine and Genomics in Pediatric Healthcare.


§ Explore the latest advancements in the treatment of type 1 diabetes, including novel paradigms and therapeutic approaches, to better understand and manage this chronic condition.

§ Gain insights into the Undiagnosed Disease Program at CHOP and its role in the field of precision medicine, focusing on how genomic and functional genomics approaches are revolutionizing the diagnosis and treatment of rare medical conditions.

§ Delve into the keynote presentation to understand how precision medicine and functional genomics are reshaping pediatric healthcare, offering new insights into disease mechanisms and personalized treatment strategies for children.


Session Chairs: Drs. Elizabeth Phimister (Deputy Editor, New England Journal of Medicine-NEJM), David Brown (Qatar Precision Medicine Institute, Doha, Qatar).

Time Speaker Talk Title
8:00-8:05 am Drs. Elizabeth Phimister (NEJM), David Brown (Science and Programme Director, Qatar Precision Medicine Institute, Doha, Qatar). Opening remarks
8:05-9:05 am Dr. Ed Liu, Jackson Labs, Professor, President Emeritus and Honorary Fellow Keynote Lecture: Path to Precision Medicine: Advancing Human Health and Economic Impact at a National Scale
9:05-9:30 am Dr. Alessandra Ferlini (Associate Professor, University of Ferrara, Italy) Genetic newborn screening: the gate to genomic medicine
9.30 – 10.00 am Poster session
10.00- 10.25 am Dr. Carmella Evans-Molina (Director, Indiana Diabetes Research Center, Indiana University, USA) New paradigms for the treatment of type 1 diabetes
10.25-10.50 am Dr. Kathleen Sullivan (Chief of the Division of Allergy and Immunology, Children Hospital of Philadelphia, USA) Undiagnosed Disease Program at CHOP and Precision Medicine
10:50 -11:35 am Dr. Stephen Kingsmore (President/CEO of Rady Children’s Institute for Genomic Medicine) Keynote Lecture: Rapid genome sequencing for newborn screening and inpatient diagnosis of genetic diseases
11:35-12:20 pm Panel discussion: Dr. Ed Liu, Dr. Stephen Kingsmore, Dr. Kathleen Sullivan, Dr. Carmella Evans-Molina, Dr. Alessandra Ferlini.

Panel Chair: Dr. Khalid Fakhro (Chief Research Officer, Sidra Medicine).

Precision medicine and functional genomics revolutionize pediatric healthcare.
12:20 – 1:45 pm End of Session: Lunch, Sponsor workshops & Poster session
12:30-1:00 pm Workshop 1: Qatar Scientific | Toby Huang, Regional Director Middle East, MGI | Workshop title: Breaking the $100 Genome Barrier: Our Journey from Bp to Pb

Workshop 2: Al Zahrawi | Asem AlNatour (QIAGEN) | The Future is Digital: Usage of QIAcuity dPCR Technology in Cell & Gene Therapy

1:45 pm Afternoon Session: Genomic Insights and Innovations, From Single-Cell Sequencing to Public Health Applications

Learning objectives:

§ Learn about advancing disease diagnosis with machine learning.

§ Gain insights into the capabilities of single-cell and single-strand sequencing techniques in characterizing genomes and understanding the consequences of mutations at a cellular level.

§ Future directions in genomic research: grasp the upcoming frontiers and possibilities in genomics for future research and applications in precision medicine.

Session Chairs: Drs. Nady El Hajj (Assistant Professor, Hamad Bin Khalifa University (HBKU)) and Jithesh Puthen Veettil (Associate Professor, HBKU)


Time Speaker Talk Title
1:45-1:50 pm Drs. Nady El Hajj & Jithesh Puthen Veettil (HBKU)


Opening remarks
1:50-2:05 pm Dr. Halima Bensmail (Qatar Computing Research Institute (QCRI), Doha, Qatar) Novel machine learning perspective to improve transcriptomics and disease diagnosis
2:05-2:30 pm Dr. Ashley Sanders (Group leader, Max Delbruck Center, Germany) Characterizing genomes and mutation consequences by single-cell and single-strand sequencing
2:30-2:55 pm Dr. Arang Rhie, Staff Scientist, NIH, Bethesda, USA Beyond one T2T human genome: what’s next?
2:55-3:20 pm Dr. Andrea Ganna (Associate Professor, Institute for Molecular Medicine Finland, HiLIFE, University of Helsinki) Translating results from large-scale genetic association studies into public health-relevant measures
3:20-3:40 pm TITANIUM TALK MEDTECH – NON-CME accredited.

Speaker: Dr Hazim Najjar, Consultant, Clinical Pathology, Molecular Genetics & Molecular Pathology, Genedrive

Precision Pharmacogenetic Point of Care Testing (POCT) to prevent Hearing Loss
3:40-4:10 pm Poster session
4:10-4:35 pm Dr. Adam C. Resnick (Director, Center for Data-Driven Discovery in Biomedicine (D3b), Children Hospital of Philadelphia) The NIH kids first data resource: establishing cross disease collaborative cloud platforms for genomic discovery and clinical translation
4:35-4:50 pm Dr. Mohamed Aghar N M Elrayess

(Director of Basic Research, Vice President for Medical and Health Sciences Office, Qatar University)

Pharmacometabolomics of Metformin Treatment in Type 2 Diabetes Patients in Qatar
4:50-5:05 pm Dr. Kholoud Bastaki (Research Associate, Vice President for Medical & Health Sciences, Qatar University) Qatar’s path to precision psychiatry: the role of pharmacogenomics
5:05-5:20 pm Dr. Martin Steinhoff (Professor & Chairman, Department of Dermatology and Venereology, Director of the HMC Translational Research Institute, Hamad Medical Corporation) Neuroinflammation in atopic dermatitis as basis for precision medicine based and targeted therapies
5:20-5:30 pm SESSION CHAIRS: Drs. Nady El Hajj (Assistant Professor, HBKU) & Jithesh Puthen Veettil (Associate Professor, HBKU) Closing remarks

13 November 2023


9:00 am

Morning Session: Unveiling the Secrets of Germline Cells, Fertilization & Fertility Preservation & Restoration through Functional Genomics.

Learning objectives

§ Explore functional genomics strategies and large-scale functional screening in gene-edited animals to identify novel molecular regulators of female and male fertility.

§ Gain insight into the role of germ cell culture and transplantation for fertility preservation and restoration.


Session Chairs: Drs. Johnny Awwad (Chair of Women’s Services, Sidra Medicine) & Matteo Avella (Principal Investigator, Sidra Medicine)

Talks selected from abstracts
Time Speaker Talk Title
8:30-8:35 am SESSION CHAIRS: Drs. Johnny Awwad (Chair of Women’s Services, Sidra Medicine) & Matteo Avella (Principal Investigator, Sidra Medicine) Opening Remarks
8:35-8:45 am Marwa Mahdouani (Higher Institute of Biotechnology of Monastir (ISBM), Tunisia) Implication of Functional Analysis in the Classification of Variants of Uncertain Significance (VUS) in Tunisian Patients
8:45-8:55 am Dr. Ilhame Diboun (Staff Scientist, Sidra Medicine, Doha, Qatar) A Robust OMIC-Based Approach Infers Insulin Resistance at Population Level and Identifies Novel Risk Modalities for Personalized Therapy
8:55-9:05 am Dr. Hamad Ali (Associate Professor, Kuwait University’s Health Science Center, Jabriya, Kuwait) Unlocking ADPKD Mysteries: Leveraging Dysregulation in Urinary Exosome miRNA Profiles for Mechanistic Insights
Morning Session: Unveiling the Secrets of Germline Cells, Fertilization & Fertility Preservation & Restoration through Functional Genomics.
9:05-9:20 am Dr. Khaled Machaca (Senior Associate Dean for Research, Weill Cornell, Qatar) Progesterone triggers Xenopus oocyte maturation through two obligate co-receptors with PLA2 activity
9:20-9:45 am Dr. Kateřina Komrsková (Professor, Institute of Biotechnology of the Czech Academy of Sciences, Prague, Czech Republic) FcRL3, named MAIA, is a newly identified ligand for human sperm-oocyte membrane binding and fusion
9:45-10:10 am Dr. Jon Oatley (Associate Dean for Research; Director, Functional Genomics Initiative; Washington State University, USA) Functional Genomics Strategies to Identify Novel Molecular Regulators of Male Fertility
10:10-10:35 am Poster session
10:35-11:00 am Dr. Raymond Anchan (Director, Stem Cell Biology and Regenerative Medicine Research Laboratory, Brigham and Women’s Hospital and Founding Member Mass General Brigham, Boston, USA) iPCS mediated ovarian steroidogenic function recovery and neogametogenesis
11:00-11:25 am Dr. Gunnar Norstedt (Center for Molecular Medicine, Karolinska Institute, Sweden) Is there a role for preventive medicine in gestational diabetes?
11:25 am-11:30 pm SESSION CHAIRS: Drs. Johnny Awwad (Chair of Women’s Services, Sidra Medicine) & Matteo Avella (Principal Investigator, Sidra Medicine) Closing Remarks

NON-CME accredited.

Speaker: Dr. Chiraz Khayat, Product Management Director – DNA Script, GSC Partner

Accelerate Oligonucleotide access: Enzymatic DNA Synthesis on your bench to enable a variety of SynBio and Genomics applications
11:50- 1:30 pm End of Session: Lunch, Sponsor workshops & Poster session
12:00-12:30 pm Workshop 1: MEDTECH | Niall Hickey, PhD from Bionano | Revolutionizing Cytogenomics ​with Optical Genome Mapping

Workshop 2: Sedeer | Dr. Walid Essid Ph.D.   Sr Technical Sales Specialist – Middle East & Pakistan, Genetic Testing Solutions, Thermo Fisher Scientific Middle East |Dr. Ashok Ayyappa.K., PhD, Application Specialist- Diagnostics & Research Division, Sedeer Medical Services, Qatar | Unlocking the Genetic Code of Healing: Pharmacogenomics in Precision Medicine

1:30 pm Afternoon Session: Advancements in Pediatric Precision Medicine: From Genomics to Disease Modeling

Learning objectives

§ Gain insights into the development and application of chromatin accessibility signatures for predicting relapse in pediatric acute myeloid leukemia.

§ Explore the technologies and applications of adaptome analysis for a better understanding of immune system diversity and function.

§ Investigate the latest discoveries in novel genes, pathways, and mechanisms associated with pediatric neurodegeneration.

Session Chairs: Drs. Nicholas Van Panhuys (Principal Investigator, Sidra Medicine) & Luis Saraiva (Director, Disease Modeling and Therapeutics Division, Sidra Medicine)


Time Speaker Talk Title
1:30-1:35 pm SESSION CHAIRS: Nicholas Van Panhuys & Luis Saraiva (Sidra Medicine) Opening Remarks
1:35 -2:00 pm Dr. Richard Oram (Associate Professor, Diabetes UK Harry Keen Fellow, University of Exeter, UK) Precision prediction and screening of type 1 diabetes
2:00-2:25 pm Dr. Jian Han (Hudson Alpha Institute for Biotechnology, USA) Adaptome Analysis: Technologies and Applications
2:25-2:50 pm Dr. Stephan Nutt (Professor, The Walter and Eliza Hall Institute of Medical Research, Victoria, Australia) Understanding diversity in the immune system
2:50 -3:15 pm Dr. Elizabeth Bhoj (Attending Physician, Children Hospital of Philadelphia; Assistant Professor, University of Pennsylvania School of Medicine, USA) Novel Genes, Pathways, and Mechanisms of Pediatric Neurodegeneration
3:15-3:40 pm Dr. Alireza Haghighi (Director, International Center for Genetic Disease, Harvard Medical School, and Founding Member Mass General Brigham, Boston, USA) Opportunities and Challenges in Genome Projects
3:40-4:05 pm Poster session
4:05-4:30 pm Dr. Donald Ingber (Founding Director, Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, USA) Human Organ Chips for Disease Modeling, Drug Development, and Personalized Medicine – Remote talk
4:30-4:45 pm Dr. Maha Al-Asmakh (Associate Professor and Head, Department of Biomedical Sciences, College of Health Sciences, Qatar University) Association of smoking and oral microbiome with the incidence of cardiometabolic syndrome in Qatari population
4:45-5:10 pm Dr. Yonglun Luo Professor in Gene and Stem Cell Technology, Department of Biomedicine, Aarhus University, Steno Diabetes Center Aarhus, Aarhus University Hospital) A Joint Effort to Accelerate the Translation of Genome Editing Technology into Treatments of Human Diseases
5:10-5:25 pm Dr. Julia Reichelt (Principal Research Scientist at Hamad Medical Corporation, Doha, Qatar) Genome editing for inherited skin disorders
5:25-5:30 pm SESSION CHAIRS: Nicholas Van Panhuys & Luis Saraiva (Sidra Medicine) Closing Remarks

14 November 2023

Day 4, November 14 Morning Session: Functional Genomics in Cancers.


§ Explore how advancements in molecular profiling, including methylation analysis, are reshaping our approach to diagnosing and managing CNS tumors.

§ Examine the successes and challenges of applying precision medicine to the treatment of rare pediatric cancers.

§ Understand how the identification and utilization of biomarkers can enhance clinical management, leading to more precise and personalized treatment strategies.

Session Chairs: Julie Decock (Senior Scientist, Cancer Research Center, Qatar Biomedical Research Institute) & Sara Deola (Principal Investigator, Sidra Medicine)

Time Speaker Talk Title
8:30-8:40 am SESSION CHAIRS: Drs. Julie Decock (Senior Scientist, Cancer Research Center, Qatar Biomedical Research Institute) & Sara Deola (Principal Investigator, Sidra Medicine) Opening remarks
Talks selected from abstracts
8:40-8:50 am Dr. Mariam Elesnawy (Qatar Biomedical Research Institute (QBRI), Doha, Qatar) Exploring the LDHC protein interactome as novel candidate therapeutic targets to advance breast cancer precision medicine
8:50-9:00 am Dr. Senthil Selvaraj (Staff Scientist, Sidra Medicine, Doha, Qatar) Deciphering the Cellular Impact of a Novel AVPR2 Mutation in X-Linked Recessive Nephrogenic Diabetes Insipidus: Insights and Therapeutic Avenues.
9:00-9:10 am Dr. Walid Qoronfleh (Executive Director, Q3 Research Institute, Ann Arbor, USA)


AI and Precision Medicine: Healthcare Data Fusion at a Population Level Relevant to Clinical Workflow for Patient-Centered Care
Morning Session: Functional Genomics in Cancers.
9:10-9:35 am Dr. Maysa Al-Hussaini (Consultant Histopathologist/Neuropathologist, King Hussein Cancer Center, Jordan) Changing Landscape of CNS Tumors; the impact of Methylation
9:35-9:50 am Dr. Borbala Mifsud (Assistant Professor, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar) Predicting relapse in pediatric acute myeloid leukemia using chromatin accessibility signatures
9:50-10:10 am TITANIUM TALK NON-CME accredited.

Speaker: Ms. Ghida Majed Sleiman, Regional Marketing Manager, MEA, BD Biosciences

A Complete Single-Cell Multi-Omics Solution
10:10 -10:40 am Poster session
10:40 -11:35 am Dr. Ted Laetsch (Children’s Hospital of Philadelphia, USA) Keynote lecture: Precision Medicine for Rare Pediatric Cancers: Lessons Learned and Future Directions
11:35-12:05 pm Dr. Jane Bayani (Co-Director, Diagnostic Development, and Principal Research Scientist, Ontario Institute for Cancer Research, Canada) Biomarker Discovery, Validation, Assay Development and Implementation: Improving Clinical Management in Early Breast and Prostate Cancers
12:05-12:10 SESSION CHAIRS: Drs. Julie Decock (Qatar Biomedical Research Institute) & Sara Deola (Sidra Medicine) Closing remarks
12:10- 1:30 pm End of Session: Lunch, Sponsor workshops & Poster session
12:20-12:50 pm Workshop 1: Gulf Scientific | Owen Hughes, GSC Partner | Beyond the ‘omics: Flow Cytometric tools for deep insights into phenotype and function


Workshop 2: New England Biolabs GmbH | Dr. Kermen Bolaeva, Area sales representative Middle East & CIS | Challenging samples for NGS library prep with NEBNext product line


1:30 pm Afternoon Session: Precision Medicine in Cancer (in person-online hybrid with SITC)


§ Explore the utilization of patient-derived platforms to gain clinical insights and a deeper understanding of the mechanism of action of therapeutic interventions.

§ Learn novel strategies for improving the affordability and accessibility of the use of CAR-T cell and gene-modified cell therapies.

§ Understand the role of initiatives like the Molecular Neuropathology Outreach Consortium in enhancing diagnostic precision and treatment planning on a global scale.


Session Chairs: Drs Rimas Orentas (Scientific Director, Caring Cross, USA) and Wouter Hendrickx (Principal Investigator, Sidra Medicine, Qatar)

Time Speaker Talk Title
1:30-1:35 pm Drs Rimas Orentas (Caring Cross) and Wouter Hendrickx (Sidra Medicine) SITC Session – Intro by session chairs
1:35-1:55 pm Dr. Douglas C Palmer (Executive Director, AstraZeneca, USA) Driving clinical line of sight and insights into mechanism of action using patient derived platforms
1:55-2:15 pm Dr. Evelyn Ullrich (Professor, Goethe University, Frankfurt am Main, Germany Engineered T or NK cell immunotherapy (remote lecture).
2:15-2:35 pm Dr. Boro Dropulic (CaringCross & Vector Biomed, Gaithersburg, USA) Improving affordability and access of CAR-T Cell and other gene modified cell therapies
2:35-2:55 pm Poster session
2:55-3:15 pm Dr. Rima Al-awar (Head of Therapeutic Innovation and Drug Discovery, OICR, Canada) Discovery of brain penetrant ALK2 inhibitors for DIPG (remote lecture)
3:15-3:35 pm Dr. Olfat Ahmad (Clinician Scientist Fellow, German Cancer Research Center, Heidelberg, Germany). Allowing the global availability of methylation-based classification tools of CNS tumors and sarcoma through the Molecular Neuropathology Outreach Consortium.
3:35-3:45 pm Dr. Hadi Mohamad Abu Rasheed (Head of the Cancer Awareness and Professional Development, Qatar Cancer Society) Empowering precision: the central role of patient organizations in tailored cancer treatments
3:45-3:55 pm Dr. Chiara Cugno (Director of Advanced Cell Therapy Core and Attending Physician in Pediatric Oncology and Hematology, Sidra Medicine) Advanced therapies manufacturing in Qatar
3:55-4:25 pm Panel discussion (Dr. Boro Dropulic, Dr. Olfat Ahmed, Dr. Douglas Palmer, Dr. Rima Al-Awar)
4:25-4:30 pm Drs Rimas Orentas (Caring Cross) and Wouter Hendrickx (Sidra Medicine) SITC Session Closing Remarks
4:30-4:45 pm Best poster awards and best Sidra Medicine paper awards with Gulf Scientific, Sedeer & Illumina-MedTech
4:45-5:00 pm Drs. Khalid Fakhro, Bernice Lo, Matteo Avella PMFG 2023 Closing remarks.

See you in Doha next year for PMFG 2024!