Programme

Thursday 25th April 2024

Genodermatoses

Genodermatoses, the genetics of rare disorders, genomics, ethics, and biobanking research

Title	Session name	Speakers
09:00-09:40	Opening session: Welcome	Chairs: Emad El-Gamal, Mohamed El-Darouti, and Ghada El-Kamah
09:00	Opening remarks by Congress Chairs	Mohamed El-Darouti (Cairo University, Egypt) and Ghada El-Kamah (National Research Centre, Egypt)
09:15	Opening remarks by Genodermatoses day Chair	Emad El-Gamal (Al-Azhar University, Egypt)
09:20	Opening remarks by DEBRA Egypt Chair	Hanaa El-Sadat (DEBRA Egypt, Egypt)
09:25	Opening remarks by DEBRA International President	Ritu Jain (DEBRA International, Singapore)
09:30	Opening remarks by Egyptian MP for the House of Representatives Human Rights Committee	Amal Salama (Egyptian Government, Egypt)
09:40-10:40	Session I: The situation	Chairs: Galal El-Anany and Samia Esmat
09:40	New systematic therapeutic options for the treatment of dystrophic EB	Mohamed El-Darouti (Cairo University, Egypt)
10:10	Genodermatoses challenge	Ghada El-Kamah (National Research Centre, Egypt)
10:40-11:00	Break
11:00-13:00	Session II A: Genodermatoses - from orphan to priority	Chairs: Ghada El-Hoseiny, Hisham Fayek, Lamia Mohsen, Hanan Hosny Afifi, Mona Farag, Mona Essawy, and Tarek El-Badry
11:00	Prenatal diagnoses experience in genodermatoses	Khaled Gaber (National Research Centre, Egypt)
11:20	Molecular profiling of some genodermatoses	Khalda Amr (National Research Centre, Egypt)
11:40	Genetics in Vitilligo	Rasha El Barbary (Al-Azhar University, Egypt)
12:00	Genodermatoses - a view from Saudi Arabia	Khalid Al Aboud (King Faisal Hospital, Saudi Arabia)
12:10	Study of molecular and clinical spectrum of some Egyptian cases with premature grey hair	Nesrine Gomaa (Tanta University, Egypt)
12:20	ED experience - clinical, molecular and dental care	Heba Ahmad, Eman Rabie, and Inas El Sayed (National Research Centre, Egypt)
12:50	Gingival manifestations in oral genodermatoses	Heba Gamal El Din (National Research Centre, Egypt)
13:00-14:20	Session II B: Genodermatoses, Precision Medicine Era	Chairs: Emad El-Gamal, Hesham Zaher, Mohammad El-Komi, and Samia Esmat
13:00	Supporting infra structure (cell lines and biobanking)	Safa Saker-Delye (Généthon, France)
13:20	Medication Use Evaluation: TDM vs MDT	Sherif Kamal (EHA board for medication management and pharmacy affairs)
13:40	Biomarkers in psoriasis	Hoda Yousry (Suez Canal University, Egypt)
14:00	Pharmacogenomics in LMIC setting	Mohamad Nagy (Children's Cancer Hospital, Egypt)
14:20-14:50	Break
14:50-16:30	Session III: Challenging cases and management	Chairs: Ahmed Sadek, Amira Eid, Medhat El-Mofty, Mohamad El-Darouti, Mostafa Ibrahim
14:50	Genodermatoses among Burundian	Adel Botros Zaghloul (Al Haud Al-Marsoud Hospital, Egypt)
	Challenging cases in genodermatoses I	Ahmed Sadek (Al-Haud Al-Marsoud Hospital, Egypt)
15:20	Challenging cases in genodermatoses II	Mohammed El-Darouti (Cairo University, Egypt)
15:50	The use of non-coverage cost effective technique for management of epidermolysis bullosa hands in Egypt: a series of 16 cases	Adel Hussein Amr (Ain Shams University, Egypt)
16:10	Fifteen years of oral rehabilitation of ectodermal dysplasia	Mohamad Abdel-Kader (National Research Centre, Egypt)
16:30-18:30	Session IV: Global perspective	Chairs: Eman Kamel, Ghada Abd El-Badea, Hamza Abd El-Raouf, Hanan Saleh, Noha Zakareya, and Sahar El-Sayed
16:30	Pigmentary Lesion in EB patients	Hagar El Sayed (Cairo University, Egypt)
16:50	A better life for EB patients	Mona Mostafa (Cairo University, Egypt)
17:10	Effect of different concentrations of human platelet rich plasma contrasted with fetal bovine serum on periodontal ligament stem cells	Maha Abdelfattah (National Research Centre, Egypt)
17:20	Global science, genetic diseases and rare diseases in social networks. Perspective from the ethics of responsibility. Leading case 2023-2024	Liliana Virginia Ziadé (Lanús University; Museum Social University, QSN, Argentina)
17:30	Genomic management of some polygenic disorders	Reham Doss (Beni Suef University, Egypt)
17:50	Adapting the blended learning distributed classroom model for training multiple learner groups in genomic medicine	Pertunia Mutheiwana (H3ABioNet, South Africa)
18:10	Wrapping	Mohamed El-Darouti (Cairo University, Egypt), Emad El-Gamal (Al-Azhar University, Egypt), and Ghada El-Kamah (National Research Centre, Egypt)
18:30	Close

DEBRA International Roundtable of Companies Welcome Reception
19:30-22:00 | InterContinental Semiramis Hotel

(Invitation only)

Saturday 27th April 2024

Research and health care in EB

The latest updates on basic and preclinical research, and therapeutic developments, and what these really mean for EB patients

Time	Title	Speaker
09:00-10:30	Session I A: Updates in EB research I	Chairs: Ghada El-Kamah and Zbigniew Ruszczak
09:00	Epidermolysis bullosa: the newest news	Zbigniew Ruszczak (Khalifa University, UAE)
09:30	New topical therapeutic options for the treatment of dystrophic epidermolysis bullosa	Mohamed El-Darouti (Cairo University, Egypt)
10:00	Research update on genetics of EB; cell, gene, and protein therapies)	Ignacia Fuentes (DEBRA Chile, Chile)
10:30-11:00	Break
11:00-12:00	Session I B: Updates in EB research I	Chairs: Zlatko Kopecki and Ignacia Fuentes
11:00	Research update on symptom prevention and relief	Dimitra Kiritsi (Aristotle University of Thessaloniki, Greece)
11:30	Research update on the EB development pipeline	Dedee Murrell (University of New South Wales, Australia)
12:00-12:50	Session II: Updates in EB research II	Chairs: Zlatko Kopecki and Ignacia Fuentes
12:00	Evaluating ELK-003 Eye Drops for Ocular Manifestations in Dystrophic and Junctional Epidermolysis Bullosa Patients in Chile: A Pilot Study	Ignacia Fuentes (DEBRA Chile, Chile)
12:10	An RNA marker of cancer in recessive dystrophic epidermolysis bullosa (RDEB)	Albert Mellick (University of New South Wales, Australia)
12:20	Gene therapy for restoring collagen VII expression in Recessive Dystrophic Epidermolysis Bullosa	Julia Carnaz Benincasa (Albert Einstein Hospital - Education and Research Center, Brazil)
12:30	Does EB cells react differently from healthy keratinocytes to biofilm presence in EB wounds?	Hadeer Ibrahim (University of Birmingham, UK)
12:40	Development of bacteria activated stimuli response dressing for management of infection in Epidermolysis Bullosa	Zlatko Kopecki (University of South Australia, Australia)
12:50-14:00	Lunch
14:00-16:00	Session III: Health care in EB	Chairs: Dedee Murrell and Zbigniew Ruszczak
14:00	Keynote presentation: Supporting patients psychologically transitioning from paediatric to adult care	Sarah Elshakankiry (Malachite Institute for Behavioral Health, Egypt)
14:30	EB care 101: Q&A	Kalsoom Begum (University Hospitals Birmingham, UK) and Imtishan Rafiq
15:00	EB Clinet – an international network to support care and retain expertise	Sophie Kitzmüller (EB Haus, Austria)
15:30	Consensus-based guidelines for the provision of palliative and end-of-life care for people living with epidermolysis bullosa	Toni Roberts (DEBRA South Africa, Africa)
15:40	Managing cases of Epidermolysis bullosa in a resource-limited setting: An experience from Nepal	Niraj Parajuli (National Academy of Medical Sciences, Nepal)
15:50	Nutritional deficiency in patients with congenital epidermolysis bullosa	Olga Orlova (Butterfly Children Foundation, Russia)
16:30-18:00	Session IV: Health care in rare diseases	Chairs: Huda Rasheed and Yahia Zakaria Gad
16:00-16:30	Break
16:30	The importance of genetic counselling in rare diseases and cultural challenges faced	Nabeelah Peerbhai (University of Cape Town, South Africa)
17:00	Long term care and holistic approaches to care for rare disease and EB patients	Anica Ježić (Ministry of Labour, Pensions Systems, Family and Social Policy, Croatia)
17:30	A holistic, biopsychosocial, patient centred, culturally sensitive, consensus statement guideline adapted to meet the local needs of our patients with epidermolysis Bullosa in South Africa & Africa, in a resource-limited setting.	Antoinette Château (University of KwaZulu-Natal, South Africa)
18:00	Close

DEBRA Egypt Charity Fundraising Event
19:30-22:00 | The Grand Egyptian Museum
Featuring the Cairo Opera String Quartet

Sunday 28th April 2024

Panel sessions

Experts in their fields discuss key issues regarding advocacy and access for rare disease patients

Time	Title	Speaker
09:00	Panel session I: How various initiatives can be consolidated towards positive healthcare outcomes for those with rare disorders	Moderator: Ritu Jain (DEBRA International, Singapore)
	Connecting the MENA region with global rare disease initiatives	Alexandra Heumber (CEO Rare Diseases International, Switzerland)
	Ethical engagement with pharmaceutical organisations	TBC
	Connecting diagnosis to care	Shirlene Badger (Global Lead for Patient Advocacy, Illumina, UK)
	The importance of knowledge retention, education and connection in the healthcare professionals community	Sophie Kitzmüller (Head of EB Clinet, EB Haus, Austria)
10:30	Break
11:00	Panel session II: Overcoming challenges to development and access to medicines and devices in the MENA region and internationally	Moderators: Hussein El-Sabagh (Mansoura University, Egypt), Mostafa El-Awady (National Research Center, Egypt), Mahmoud Bahgat (National Research Center, Egypt), and Ghada El-Kamah (National Research Center, Egypt)
	EDA role to ensure the ease of access and availability of medicines for rare diseases	Nourhan Tahoun (Egyptian Drug Authority, Egypt)
	The National Consultancy Centre: A proposed initiative by the Drug Research Council to overcome challenges of pharmaceutical industry in Egypt	Maha Nasr (Ain Shams University, Egypt)
12:00	Break
12:30	Session III: The patient journey and care approaches that meet the needs of patients and physicians	Moderators: Mohamed El-Darouti (University of Cairo) and TBC
	Managing EB with limited resources, funding, and care teams - a South African experience	Carol Hlela (Red Cross Children's Hopsital, South Africa)
	Establishing an EB House - a MENA region experience	Shaden Abdel Hadi (Sheikh Khalifa Medical City, Abu Dhabi, UAE)
	Mutational analysis and management strategies in epidermolysis bullosa - an Indian experience	Rahul Mahajan (Postgraduate Institute of Medical Education and Research, India)
	EB management updates - a Tunisian experience	Khadija Sellami (Hedi Chaker Hospital, Tunisia)
14:00	Session IV: Poster prizes and closing remarks	Chairs: Mohamed El-Darouti (Cairo University, Egypt) and Ghada El-Kamah (National Research Centre, Egypt)
	Poster prizes	Mohamed El-Darouti (Cairo University, Egypt) and Ghada El-Kamah (National Research Centre, Egypt)
	Closing remarks	Mohamed El-Darouti (National Research Centre, Egypt), Ghada El-Kamah (National Research Centre, Egypt), and Hanaa El-Sadat (DEBRA Egypt, Egypt)
14:30	Close of Congress

Friday 26th April 2024

Advocacy in EB

Networking sessions, achievements and challenges of DEBRAs in the MENA region and worldwide, the priorities of patients

Time	Title	Speaker
08:30-09:00	Opening session: Welcome	Chairs: Mohamed El-Darouti and Ghada El-Kamah
08:30	Opening remarks by Congress Chairs	Mohamed El-Darouti (Cairo University, Egypt) and Ghada El-Kamah (National Research Centre, Egypt)
08:40	Opening remarks by DEBRA Egypt Chair	Hanaa El-Sadat (DEBRA Egypt, Egypt)
08:50	Opening remarks by DEBRA International Chair	Ritu Jain (DEBRA International, Singapore)
09:00-10:30	Session I: Patients (and communities) as partners in research
	Panel session: The patient researcher: partnering with patients at various stages of therapeutic development and access	Moderator: Ritu Jain
	BUR-EB - the importance of understanding the socio-economic burden of the disease	Sophie Strobl (Sigmund Freud University, Austria / University of Freiburg, Germany)
	The COSEB initiative - developing a core outcome set for EB	Dimitra Kiritsi (Aristotle University of Thessaloniki, Greece)
	Incorporating patient-reported outcome measures (PROMs) as proof of treatment efficacy	Dedee Murrell (University of New South Wales, Australia)
	Patient driven evidence generation for advocacy - the Brazil project	Emeline Baillargeault (URGO Medical, France)
10:30-11:00	Break
11:00-12:30	Session II: The patient advocate - a vital player in healthcare
	Panel session: Collaborating with patients: building on lived experiences for improved health outcomes	Moderator: Olivia Mullins
	The role of the patient advocate in research and healthcare	Ritu Jain (DEBRA International, Singapore)
	The voice of EB patients - experts in their own condition	Andreas Miller (DEBRA Germany, Germany)
	The voice of EB patients - experts in their own condition	Mehar Singh (DEBRA International, India)
	Involving the patient voice in research - a research perspective	Ignacia Fuentes (DEBRA Chile, Chile)
	Involving the patient voice in healthcare - a clinicial perspective	Kalsoom Begum (University Hospitals Birmingham, UK)
12:30	Lunch
13:30	Session III A: Increasing the reach of DEBRA and awareness of EB worldwide
	Panel session: Best practices and challenges of patient advocacy organisations (PAOs) - what can we learn from each other?	Moderator: Hanaa El-Sadat
	DEBRA Australia	Zlatko Kopecki (DEBRA Australia, Australia)
	DEBRA Brasil	Priscila Keiko Matsumoto Martin (DEBRA Brasil, Brazil)
	DEBRA Canada	Ryan Hultman (DEBRA Canada, Canada)
	DEBRA Norge	Zlatko Orucevic (DEBRA Norge, Norway)
14:30	Panel session: Forming a patient advocacy group - how to go about it and what makes one successful?	Moderator: Toni Roberts
	DEBRA Pakistan and the role of culture	Faiza Ambreen (DEBRA Pakistan, Pakistan)
	DEBRA Croatia as the hub for expertise in the region	Vlasta Zmazek (DEBRA Croatia, Croatia)
	DEBRA Egypt - "Finding a purpose"	Hanaa El-Sadat (DEBRA Egypt, Egypt)
	DEBRA South Africa - "From patient to advocate"	Toni Roberts (DEBRA South Africa, South Africa)
15:30	Break
16:00	Session III B: Increasing the reach of DEBRA and awareness of EB worldwide	Chair: Olivia Mullins
16:00	Shaping the patient leaders of tomorrow - DEBRA International Youth Council	Toni Roberts (DEBRA South Africa, South Africa), Ira Jain (DEBRA Singapore, Singapore), and Racquel Russo (DEBRA International, USA)
	EB Awareness Week 2024 - a DEBRA International campaign	Megan Foster Flaherty (DEBRA International, UK)
16:45	Session IV: How do we improve care of people with EB?	Moderators: Ryan Hultman, Olivia Mullins, Toni Roberts, and Megan Foster Flaherty
	Small groups networking session for clinicians, HCPs, advocates, patients, caregivers
18:30	Close

round-table-with-white-tablecloth-table-is-decorated-with-vase-flowers-wine-glass-champagn

Gala Dinner I
19:30-22:00 | InterContinental Semiramis Hotel

Kindly Note that Day 4 Agenda Starts at 9:00 Am

Activating awareness of EB and other rare disorders in Africa and MENA regions: a DEBRA Congress

Programme

Thursday 25th April 2024

Genodermatoses

DEBRA International Roundtable of Companies Welcome Reception
19:30-22:00 | InterContinental Semiramis Hotel

(Invitation only)

Saturday 27th April 2024

Research and health care in EB

DEBRA Egypt Charity Fundraising Event
19:30-22:00 | The Grand Egyptian Museum
Featuring the Cairo Opera String Quartet

Sunday 28th April 2024

Panel sessions

Friday 26th April 2024

Advocacy in EB

Gala Dinner I
19:30-22:00 | InterContinental Semiramis Hotel

Welcome Reception
Wednesday 24th April 2024
19:30-22:00 | InterContinental Semiramis Hotel

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Activating awareness of EB and other rare disorders in Africa and MENA regions: a DEBRA Congress

Programme

Thursday 25th April 2024

Genodermatoses

DEBRA International Roundtable of Companies Welcome Reception 19:30-22:00 | InterContinental Semiramis Hotel (Invitation only)

DEBRA International Roundtable of Companies Welcome Reception
19:30-22:00 | InterContinental Semiramis Hotel

(Invitation only)