156
Speakers
53
Sessions
28
Expected CME hours
Dr. Michael Kiefer
Assistant Professor of Physical Therapy and Investigator in the Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, USA
❝ I am excited to be a part of the MENA Congress for Rare Diseases 2025. This congress is an excellent platform to foster collaboration and knowledge exchange across researchers, clinicians, and individuals with rare diseases and their families to advance therapies for individuals with rare diseases. ❞
Dr. Michael Kiefer
Assistant Professor of Physical Therapy and Investigator in the Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, USA
Dr. Abdullah Al Zayed
Consultant Internist and Hematologist, Qatif Health Network, Qatif, Saudi Arabia
❝ Hailing from the eastern province of Saudi Arabia, where rare diseases are prevalent, I consider the MENA Congress for Rare Diseases a profoundly enlightening and enriching experience for all individuals contending with these health challenges. The MENA Congress for Rare Diseases serves as a pivotal regional summit concentrating on rare diseases and orphan drugs within the Middle East and North Africa (MENA) region. Its aim is to convene healthcare professionals, researchers, policymakers, and patient advocates to deliberate on advancements, exchange knowledge, and foster collaboration towards bettering the care and treatment of rare diseases. From a personal perspective, I look forward to delving into alpha thalassemia and assimilating the latest updates on treatment and advancements ❞
Dr. Abdullah Al Zayed
Consultant Internist and Hematologist, Qatif Health Network, Qatif, Saudi Arabia
Mr. Wael Al Awabdah
Behavior Analyst, Special Olympics UAE, Abu Dhabi, UAE
❝ I am honored to be invited as a speaker at the MENA Congress for Rare Diseases. With over 15 years of experience in the field of Applied Behavior Analysis (ABA), my work has focused on enhancing the quality of life for individuals with autism and developmental disabilities through evidence-based, compassionate strategies. This congress serves as a vital platform to share insights, collaborate with experts, and promote innovative approaches to supporting individuals with rare conditions and their families. Together, we can foster inclusion and create meaningful impacts across the region. ❞
Mr. Wael Al Awabdah
Behavior Analyst, Special Olympics UAE, Abu Dhabi, UAE
Dr. Adel Al Assy
Senior Manager, Pharmaceuticals, M42, Abu Dhabi, UAE
❝ At this Congress, I look forward to engaging with fellow experts, exchanging insights, and collaborating on solutions that improve accessibility, reduce inefficiencies, and drive sustainable healthcare practices. Together, we can build a future where no patient is left waiting for essential treatment. ❞
Dr. Adel Al Assy
Senior Manager, Pharmaceuticals, M42, Abu Dhabi, UAE
Prof. Rodrigo Pinheiro Araldi
Founder & Scientific Director, BioDecision Analytics Ltda; and Professor of Molecular Biology, Paulista School of Medicine, Federal University of Sao Paulo, Sao Paulo, Brazil
❝ It is an honor to be a speaker at the MENA Congress for Rare Diseases, one of the most significant scientific events in the field. I am privileged to return to this event to showcase how the biomarkers for Huntington disease (HD), awarded at the previous edition of this Congress, have contributed to the development of a promising therapy for HD. This year marks 20 years of research into the therapeutic applications of dental pulp stem cells for HD (NestaCell® product). In celebration of these two decades of dedication, I have the exceptional opportunity to share in vitro, preclinical, and clinical evidence that highlight NestaCell® as a promising therapy for HD. I hope this journey inspires the scientific community and stakeholders, fostering a collaborative environment to advance the development of a global network that drives research, development, and innovation in therapeutic strategies for rare diseases. ❞
Prof. Rodrigo Pinheiro Araldi
Founder & Scientific Director, BioDecision Analytics Ltda; and Professor of Molecular Biology, Paulista School of Medicine, Federal University of Sao Paulo, Sao Paulo, Brazil
Dr. Khawla Al Shehhi
Philosophy in Education (Special and Inclusive), The British University in Dubai, Higher Colleges of Technology, Ras Al Khaimah, UAE
❝ It is an honor to chair the 3rd MENA Rare Disease Symposium for Patients and Families at the MENA Congress for Rare Diseases 2025. This platform provides a vital space for collaboration, awareness, and advocacy, ensuring that patients and families feel supported and empowered. Through meaningful discussions and shared experiences, we can drive positive change and enhance the quality of life for those affected by rare diseases. I look forward to engaging with experts, caregivers, and families in a collective effort to build a more inclusive and informed community. ❞
Dr. Khawla Al Shehhi
Philosophy in Education (Special and Inclusive), The British University in Dubai, Higher Colleges of Technology, Ras Al Khaimah, UAE
Ms. Alexandra Heumber Perry
Chief Executive Officer, Rare Diseases International, Geneva, Switzerland
❝ I am eagerly anticipating the opportunity to participate in the MENA Congress for Rare Diseases 2025, where I look forward to engaging with healthcare providers, researchers, advocates, and patients as we work collectively to ensure that no person living with a rare disease is left behind. This congress perfectly aligns with RDI’s commitment to deepening our engagement and support for people living with rare diseases (PLWRD) and their communities across the MENA region. The high quality of the presentations, the diversity of topics covered, and the strong international participation underscore the significance of this congress as a key platform for advancing our shared mission. At Rare Diseases International, our vision is to create a world where people living with rare diseases and their families experience a better quality of life through full recognition and comprehensive support. This congress is a vital step in achieving that vision by bringing together global stakeholders to collaborate, innovate, and advocate for those who are too often overlooked ❞
Ms. Alexandra Heumber Perry
Chief Executive Officer, Rare Diseases International, Geneva, Switzerland
Mrs. Asmaa Al-Ismailia
Head of the Family Support Group for Rare Diseases in Sultanate of Oman, Muscat, Oman
❝ أنا أم لطفلين يعانيان من مرض استقلابي نادر. فقدت طفلي الأول، واليوم يواجه طفلي الثاني نفس المرض، قررت أن أتحول من الألم إلى الفعل، انا و مجموعة من الأمهات الذين يعانون من الأمراض النادرة ندعم بعض من خلال نشر الوعي وتقديم الدعم النفسي وتنظيم فعاليات توعوية، وانه لشرف لي أن أتحدث في هذا المؤتمر عن تحديات الحياة مع الأمراض النادرة من خلال تعايشي مع مرض أطفالي، وأهمية مجموعات الدعم التي تسهم في تقبل الأسر لمرض أولادهم و دعم الأمهات نفسيا ❞
Mrs. Asmaa Al-Ismailia
Head of the Family Support Group for Rare Diseases in Sultanate of Oman, Muscat, Oman
Mrs. Karen Kehdy
Neurodiversity Advocate, Writer, and Mother of Two Neurodivergent Children, Dubai, UAE
❝ I had the privilege of participating in the MENA Congress on Rare Diseases previously, and it was an incredibly insightful and impactful experience. Conferences like this play a crucial role in strengthening the community and fostering collaboration among all stakeholders. This year, I am even more excited as the congress has expanded its scope to include the important topic of neurodiversity. Given that many rare diseases can coexist with neurodivergence, this inclusion is both timely and essential. I look forward to being part of this year’s event and continuing to learn, share, and grow alongside such a passionate and dedicated community ❞
Mrs. Karen Kehdy
Neurodiversity Advocate, Writer, and Mother of Two Neurodivergent Children, Dubai, UAE
Mrs. Hala Abass
❝ I am honored to take part in the MENA Congress for Rare Diseases 2025, the largest event for rare diseases in the region. I am grateful to connect with patients and their families to exchange experience and knowledge. As a mother of two children with a rare disease, I am glad to get the opportunity to share my experience in the congress and raise the awareness about mitochondrial disorders. ❞
Mrs. Hala Abass
Mrs. Nashmeya Al-Fili
❝ أنا نشمية عبدالوهاب الفيلي والدة مزنة المصابة بمتلازمة الكورنيليا دي لانج، عضوة في جمعية الامارات للأمراض النادرة وإدارية في مجموعة أمهات العرب لأبطال كورنيليا دي لانج، وإدارية في مجموعة دعم أهالي أصحاب الهمم، أتقدم بخالص الشكر والامتنان لمؤتمر الأمراض النادرة في الشرق الأوسط وشمال افريقيا على تفانيه لرفع الوعي من خلال قصص تجاربنا وصمودنا كأمهات، لنجعل هذا المؤتمر منارة للتعاون والتعاطف والتقدم مع العوائل والأطباء والباحثين. لننقل التحديات في المجتمع والنظام الصحي الى السرعة في التنفيذ وبجودة عالية ❞
Mrs. Nashmeya Al-Fili
Ms. Nipa Bhuptani
Founder and Chief Values Officer, Applied & Behavioral Training Institutes, Abu Dhabi, UAE
❝ It’s a privilege to once again present at the MENA Congress for Rare Diseases, a platform that has inspired me for the past three years. This year, I am excited to introduce the ACE program, which focuses on driving Alignment, Commitment, and Excellence to build inclusive environments for People of Determination. I believe this program can be a game-changer for organizations, as it presents a unique opportunity for executives and decision-makers in the UAE to learn from leading experts and gain practical tools to drive meaningful change. I encourage you to join us and be part of this important conversation on inclusion and belonging ❞
Ms. Nipa Bhuptani
Founder and Chief Values Officer, Applied & Behavioral Training Institutes, Abu Dhabi, UAE
Dr. Kuldeep Dhariwal
Consultant Pediatrics, NMC Specialty Hospital, Al Nahda, Dubai, UAE
❝ It is a great honor to be invited as a speaker at the esteemed MENA Congress for Rare Diseases 2025, and I am grateful for this opportunity. The future of rare diseases in the era of genomic medicine and artificial intelligence will be revolutionary. I have dedicated my work to rare diseases and am pleased to share my experience in this cutting-edge research, supported by evidence. By sharing these insights, I hope to contribute to the goal of early diagnosis and improved access to treatment, ultimately enhancing the quality of life for patients. ❞
Dr. Kuldeep Dhariwal
Consultant Pediatrics, NMC Specialty Hospital, Al Nahda, Dubai, UAE
Dr. Samuel Carrell
Assistant Professor of Neurology and the Associate Director of the Center for Inherited Muscle Research (CIMR), Virginia Commonwealth University, Richmond, Virginia, USA
❝ I look forward to participating in the MENA Congress for Rare Diseases 2025. This is an excellent opportunity for stakeholders across the translational spectrum of targeted therapy development to share their expertise and to learn from professionals in related fields. ❞
Dr. Samuel Carrell
Assistant Professor of Neurology and the Associate Director of the Center for Inherited Muscle Research (CIMR), Virginia Commonwealth University, Richmond, Virginia, USA
Dr. Gihan Elsisi
Managing Director, Technology Appraisal, HTA Office, Middle East and North Africa, Dubai, UAE
❝ I am honored to participate in this important and highly scientific conference. Health economics now seeks to examine the factors that influence the industry’s costs and quality of care, especially in rare diseases. In response to the emerging national and international interest in rare diseases, it is crucial to connect, share diverse experiences across countries, and discuss the value of interventions and their impact on patients, healthcare systems, the economy, and society. This dialogue is essential for promoting health for all. ❞
Dr. Gihan Elsisi
Managing Director, Technology Appraisal, HTA Office, Middle East and North Africa, Dubai, UAE
Prof. Tawfeg Ben-Omran
Division Chief & Senior Consultant, Medical Genetic Department, Hamad Medical Corporation & Sidra Medicine, Doha, Qatar
❝ MENA Congress for Rare Diseases 2025 will provide a unique platform for innovative discoveries and insightful discussions and collaborative networking for rare diseases. Our congress allows exchange of experiences and knowledge between all participants from the region and all over the world ❞
Prof. Tawfeg Ben-Omran
Division Chief & Senior Consultant, Medical Genetic Department, Hamad Medical Corporation & Sidra Medicine, Doha, Qatar
Ms. Lama Ayoub
International Behavioral Consultant, Special Olympics UAE, Abu Dhabi, UAE
❝ It is an honor to present at the MENA Congress for Rare Diseases, a platform that has inspired countless professionals over the years. I am thrilled to introduce “Unified Healthcare Training: Empowering Medical and Patient Interfacing Professionals to Provide Compassionate Healthcare to People of Determination,” where we will explore the role of Applied Behavior Analysis (ABA) strategies in fostering inclusive healthcare practices. By integrating ABA principles, professionals can enhance their ability to support People of Determination, helping to create a healthcare system that is empathetic, equitable, and inclusive. This session provides practical tools and insights from behavioral experts, empowering attendees to drive meaningful change within their organizations. We invite you to join this vital conversation about compassionate care. Together, we can build a healthcare environment that truly values diversity, accessibility, and inclusion. ❞
Ms. Lama Ayoub
International Behavioral Consultant, Special Olympics UAE, Abu Dhabi, UAE
Dr. Binu George
Consultant Neurodevelopmental Disabilities and Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, UAE
❝ It is immensely satisfying to see a congress of this magnitude dedicated to addressing questions about different aspects of managing diseases and conditions that are not commonly encountered. Input from highly experienced and specialized professionals provides an amazing opportunity to gain firsthand knowledge about these conditions. Even more importantly, hearing from patients and families offers a window into the unique strengths and challenges these conditions present to them. This is truly a unique and valuable resource for everyone committed to working in this field. ❞
Dr. Binu George
Consultant Neurodevelopmental Disabilities and Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, UAE
Mrs. Ellen Koekoeckx
Global Advisor, Foundation for Angelman Syndrome Therapeutics (FAST), Leuven, Belgium
❝ I am truly honored to represent the Foundation for Angelman Syndrome Therapeutics (FAST) at the MENA Congress for Rare Diseases, alongside Amelia Beatty, a dedicated member of FAST's Board of Directors. Together, we are excited to share FAST mission to drive transformative research and development programs forward as quickly as possible for everyone living with Angelman syndrome—regardless of age or genotype. At the congress, we will provide an update on the roadmap to a cure and highlight the latest research advancements. Our aim is to empower families in the MENA region with the knowledge and resources they need to make informed decisions for their loved ones. We look forward to connecting with you and advancing our shared goal of bringing meaningful change to the Angelman syndrome community. ❞
Mrs. Ellen Koekoeckx
Global Advisor, Foundation for Angelman Syndrome Therapeutics (FAST), Leuven, Belgium
Mr. Johannes Loh
Director, Government and Public Sector, MENA Consulting Services, Ernst & Young Middle East, Abu Dhabi, UAE
❝ It is my pleasure to be a part of the MENA Congress for Rare Diseases. This event provides a unique opportunity for the community, professionals, researchers, and government officials to come together and exchange ideas on improving the lives of those living with rare diseases. I am looking forward to speaking about the role of stakeholders in shaping inclusive frameworks and exploring the various ways to engage policymakers, the community, and industry stakeholders in driving social change. ❞
Mr. Johannes Loh
Director, Government and Public Sector, MENA Consulting Services, Ernst & Young Middle East, Abu Dhabi, UAE
Dr. Ellie Carrell
Assistant Professor, Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, USA
❝ The MENA Congress for Rare Diseases is an incredible forum for advancing knowledge and establishing communities amongst clinicians, academic researchers, families, and industry partners. As an academic scientist, I am grateful for this conference for providing a window into the patient experience and clinical practice to inform ongoing therapeutic development. ❞
Dr. Ellie Carrell
Assistant Professor, Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, USA
Dr. Lama AlAbdi
Scientist and Section Head of Developmental Genetics, Translational Genomics Department, Centre For Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
❝ As we join the MENA Congress for Rare Diseases 2025, we are honored to learn from and collaborate with world-renowned experts distinguished by their exceptional contributions to genetic research. With their impressive history of innovation and discovery in the field of genetics, our partnership is poised to make significant contributions to the dialogue on rare diseases. We look forward to sharing our latest research, gaining insights from fellow experts, and working toward impactful, meaningful solutions for patients across the MENA region and beyond. ❞
Dr. Lama AlAbdi
Scientist and Section Head of Developmental Genetics, Translational Genomics Department, Centre For Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Dr. Rasha Abdelrahman
Head of Psychology Department & Assistant Professor, College of Humanities and Sciences, Ajman University, Ajman, UAE
❝ Participating in the MENA Congress for Rare Diseases 2024 was a truly inspiring experience, and I am deeply grateful to the organizers for creating such a meaningful event. It was an honor to share insights on stress management for parents of children with special needs and to engage with a community so dedicated to improving lives. The congress provided a unique platform for learning, collaboration, and the exchange of ideas, fostering a sense of unity and purpose among professionals, researchers, and advocates alike. I look forward to continuing this important work and am excited to share more insights at the coming congress, MENA Congress for Rare Diseases 2025. For anyone passionate about making a difference in the field of rare diseases, attending this congress is an invaluable opportunity to connect, contribute, and be part of a movement that truly matters. ❞
Dr. Rasha Abdelrahman
Head of Psychology Department & Assistant Professor, College of Humanities and Sciences, Ajman University, Ajman, UAE
Mr. Abdulla Lutfi
Autistic Savant Artist, Dubai, UAE
❝ My name is Abdulla Lutfi, I am Autistic Savant, black and white Emirati artist. I am honored to be a part of the MENA Congress for Rare Diseases 2025 in partnership with Burjeel Medical City and honored to be speaking at the 1st MENA Summit for Autism and Neurodivergence. I see my autism not as a limitation but as a strength. It has given me a different way of seeing the world, and I realized I could use that to tell stories, not only about myself but about the people and places around me. I am proud to represent the UAE as an autistic savant artist, and I hope my work inspires others to embrace their differences and use their unique talents to share their voices. Every stroke of my pen is a reminder that we all have a special way of seeing and experiencing the world, and that should be celebrated. ❞
Mr. Abdulla Lutfi
Autistic Savant Artist, Dubai, UAE
Prof. Salam Alkindi
Professor, Department of Hematology, Sultan Qaboos University, Muscat, Oman
❝ It is my pleasure to be among this distinguished group of experts, where I will update the audience on the progress made in sickle cell disease treatment. A better understanding of the pathophysiology of sickle cell disease has created opportunities for drug development to ameliorate the manifestations of this disease, giving hope to millions of patients around the world. ❞
Prof. Salam Alkindi
Professor, Department of Hematology, Sultan Qaboos University, Muscat, Oman
Dr. Binu George
Consultant Neurodevelopmental Disabilities and Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, UAE
❝ It is immensely satisfying to see a congress of this magnitude dedicated to addressing questions about different aspects of managing diseases and conditions that are not commonly encountered. Input from highly experienced and specialized professionals provides an amazing opportunity to gain firsthand knowledge about these conditions. Even more importantly, hearing from patients and families offers a window into the unique strengths and challenges these conditions present to them. This is truly a unique and valuable resource for everyone committed to working in this field. ❞
Dr. Binu George
Consultant Neurodevelopmental Disabilities and Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, UAE
Ms. Khalsa Al-Kharusi
Genetic counsellor, Genetics and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman
❝ I am truly honored to have the opportunity to share the genetic counseling experience from Oman at the upcoming MENA Congress for Rare Diseases 2025. I look forward to engaging with fellow experts and researchers as we explore the future of genetics and its impact on our world. ❞
Ms. Khalsa Al-Kharusi
Genetic counsellor, Genetics and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman
Prof. Brahim Tabarki Melaiki
Consultant Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
❝ I am glad to participate in the MENA Congress for Rare Diseases 2025. This congress serves as a platform to present the latest advancements, exchange cutting-edge scientific knowledge, and discuss the newest clinical applications aimed at improving the care of patients with rare diseases. ❞
Prof. Brahim Tabarki Melaiki
Consultant Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Dr. Zahra Alsahlawi
Consultant Pediatric Inborn Errors of Metabolism and Clinical Genetics and Deputy Chief of Medical Staff, Salmaniya Medical Complex, Ministry of Health, Manama, Bahrain
❝ I am honored to speak in the coming MENA Congress for Rare Diseases sharing Bahrain experience and addressing different achievements and challenges in the field of rare diseases. This exciting and interesting congress gives us the opportunity to present and discuss different topics including innovation in genetic testing and recent discoveries in rare diseases including new treatments. By hosting experts in the field of genetic and rare diseases from the region and all over the world, it will be an excellent platform for information sharing and recent updates exchanging. I am looking forward for this amazing congress. ❞
Dr. Zahra Alsahlawi
Consultant Pediatric Inborn Errors of Metabolism and Clinical Genetics and Deputy Chief of Medical Staff, Salmaniya Medical Complex, Ministry of Health, Manama, Bahrain
Prof. Maha Zaki
Professor, Clinical Genetics Department, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt
❝ I am excited and proud to participate as a speaker and member of the scientific committee in this distinguished conference, the MENA Congress for Rare Diseases 2025. This annual conference plays a distinctive and key role in disseminating advanced knowledge at all levels for doctors, scientists, healthcare professionals, caregivers, parents, and patients. This extraordinary event brings together unique scientists from around the world, presenting their outstanding research on the diagnosis and treatment of rare diseases. It also involves several organizations that support rare diseases and families who contribute by sharing their experiences regarding their children’s illnesses. The primary goal of this unique meeting is to promote health and improve the quality of life for patients suffering from rare diseases. Moreover, this conference encourages and motivates young researchers to present their updated work, compete for recognition, and become an integral part of this exceptional congress for the MENA region. ❞
Prof. Maha Zaki
Professor, Clinical Genetics Department, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt
Ms. Shija Sapru
Neurodiversity and Strength-Based Approach Advocate, Certified in Twice Exceptional (2e) Education from Bridges Graduate School, and Supporter of Alternative Schooling Approaches, Dubai, UAE
❝ As a parent of two wonderful children with neurodivergent traits, I have had the privilege of learning and growing through the unique experiences and challenges that come with neurodiversity. Embracing a strengths-based approach has been essential in supporting and nurturing their individual strengths and talents. I am truly honored to have been given the opportunity to speak at the MENA Congress for Rare Diseases 2025. It is my aspiration to impart my knowledge and insights to the audience, drawing from my own experiences. Furthermore, I am immensely grateful for the inclusive approach taken by the MENA Congress for Rare Diseases 2025, a unique event in the region, in recognizing the importance of neurodiversity. The inclusion of the MENA Summit for Autism and Neurodivergence as part of the MENA Congress for Rare Diseases 2025 is a significant step forward in creating a space where individuals and families affected by neurodivergent conditions can come together, share knowledge and foster understanding and acceptance within the community. ❞
Ms. Shija Sapru
Neurodiversity and Strength-Based Approach Advocate, Certified in Twice Exceptional (2e) Education from Bridges Graduate School, and Supporter of Alternative Schooling Approaches, Dubai, UAE
Prof. Arif O. Khan
Chair of Pediatric and Neuro-ophthalmology, Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE
❝ In Middle East and North African countries (i.e., the MENA region), certain rare diseases are more common than in other areas of the world. Patients with such rare diseases require a high level of suspicion to diagnosis, may present to different subspecialists, and need a multidisciplinary approach. The MENA Congress for Rare Diseases is thus an important congress for practitioners in the MENA region that highlights relevant diseases which are often not well covered in other international conferences. The symposia of the congress and the broad range of specialties represented are impressive. I look forward to participating in and learning from the MENA Congress for Rare Diseases 2025. ❞
Prof. Arif O. Khan
Chair of Pediatric and Neuro-ophthalmology, Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE
Mrs. Hanan Hirst
Head of Central Functions MEA & ASIA and Mother of a Child with X-Linked Hypophosphatemia, Dubai, UAE
❝ Honored and excited to be part of the MENA Congress for Rare Diseases in the UAE. Having the opportunity to share the experience I faced, covering the many stages of identifying that my child was harboring an unexpected, unclear, and surprising condition, to how it was managed, understood, and then treated throughout the journey of discovery, acceptance, impact, and treatment. I believe this Congress is an amazing place to gather and bring together many forms of insights, both through professional and personal experiences. The desire to share and learn is one of the most important traits we each have to support one another, enabling a better and wider vision and awareness of how essential it is to stand together as a community for the healthy expansion of our global community, especially when it comes to individual health and well-being. Holding hands as individuals, patients, caregivers, parents, family members, friends, doctors, nurses, medical professionals of all kinds, pharmaceutical companies, healthcare companies, providers, hospitals, educational institutions, Congress organizers, etc., is key to making the world a better place for everyone, whatever their ‘condition’ may be. ❞
Mrs. Hanan Hirst
Head of Central Functions MEA & ASIA and Mother of a Child with X-Linked Hypophosphatemia, Dubai, UAE
Dr. Farah ElTurk
Clinical Biochemical Geneticist and Scientific Director of the Medical Biochemical Genetics Laboratory, Sainte-Justine University Health Centre, Montreal, Canada
❝ I am excited and honored to participate in the MENA Congress for Rare Diseases. As a dedicated medical scientist in the global rare disease community, I have devoted most of my career to gaining valuable insights and serving patients with orphan diseases across North America and Europe. This international conference provides a unique opportunity to engage with esteemed colleagues from the Middle East and beyond. I look forward to sharing my knowledge, exchanging ideas, and learning from the diverse perspectives and expertise of those in attendance. This Congress will strengthen global collaboration efforts to enhance the understanding of rare diseases and improve patient outcomes worldwide. ❞
Dr. Farah ElTurk
Clinical Biochemical Geneticist and Scientific Director of the Medical Biochemical Genetics Laboratory, Sainte-Justine University Health Centre, Montreal, Canada
Mrs. Jinu Rachel John
Masters in Biomedical Genetics, Certified in Behavioral Therapy and Special Education, Project Lead in AMEA, and Mother of Child with Rett Syndrome, Dubai, UAE
❝ I am extremely honored to be invited as one of the speakers at the MENA Congress for Rare Diseases 2025. It is both a privilege and a responsibility to share my perspectives on Rett syndrome—our journey with our 8-year-old daughter, Johanna, a true Rett syndrome warrior. Through this platform, I hope to shed light on the challenges, triumphs, and unwavering resilience that define our experience, while also contributing to a broader conversation about awareness, advocacy, and support for individuals and families affected by rare diseases. ❞
Mrs. Jinu Rachel John
Masters in Biomedical Genetics, Certified in Behavioral Therapy and Special Education, Project Lead in AMEA, and Mother of Child with Rett Syndrome, Dubai, UAE
Ms. Ayat Kadhi
Lecturer, University of Doha for Science and Technology and PhD Candidate, Hamad Bin Khalifa University and Sidra Medicine, Doha, Qatar
❝ I am honored and excited to be part of the MENA Congress for Rare Diseases, a vital platform for advancing research, collaboration, and patient-centered care in the field of rare diseases. This congress unites experts, clinicians, and researchers committed to uncovering new insights and developing innovative solutions—a mission that deeply aligns with my passion for genomics research. Being part of this event is a privilege, as it provides an opportunity to share knowledge, exchange ideas, and contribute to meaningful discussions that drive real impact. I look forward to engaging with fellow experts, gaining new perspectives, and working toward improving outcomes for individuals affected by rare diseases. ❞
Ms. Ayat Kadhi
Lecturer, University of Doha for Science and Technology and PhD Candidate, Hamad Bin Khalifa University and Sidra Medicine, Doha, Qatar
Ms. Ramola Talwar Badam
Communities Editor, The National, Abu Dhabi, UAE
❝ This is an incredible opportunity for a deep dive into learning more about rare diseases by listening to the latest advancements from experts. The MENA Congress for Rare Diseases 2025 gives me the chance to explore how media coverage can shape the narrative, promote acceptance, fight stigma, and focus on inspiring stories to create a better understanding of rare conditions. Once information is broken down and knowledge about rare diseases is shared, the door opens for empathy and inclusion. Looking forward to connecting, learning, and contributing so stronger bridges can be built between the research and medical community and the media. ❞
Ms. Ramola Talwar Badam
Communities Editor, The National, Abu Dhabi, UAE
Ms. Dana Hammad
Biotechnologist, Sciences College, Sharjah University, Sharjah, UAE
❝ Throughout my university years, rare diseases have been a major area of interest. As a biotechnologist, I consider it my duty to study, understand, and contribute to the search for potential treatments for these conditions. Speaking at the MENA Congress for Rare Diseases 2025 will provide me with the opportunity to share my insights on Lesch-Nyhan syndrome, exchange knowledge with fellow experts, and broaden my perspective on other rare diseases. I encourage students, trainees, and colleagues to attend the Conference, as it will undoubtedly enhance their understanding of rare diseases. ❞
Ms. Dana Hammad
Biotechnologist, Sciences College, Sharjah University, Sharjah, UAE
Dr. Shivam Mittal
Section Head and Consultant Neurologist, Parkinson Disease & Movement Disorders Program, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE
❝ I am honored to speak at the 2nd MENA Summit for Huntington Disease on "Approach to Chorea: Steps for Diagnosis". Chorea, a hallmark symptom of Huntington disease (HD), poses significant diagnostic challenges due to its resemblance to other treatable conditions such as Wilson’s disease, Sydenham’s chorea, and drug-induced movement disorders. My talk will focus on a practical, stepwise approach for neurologists, physicians, and pediatricians to improve diagnostic accuracy and patient outcomes. I will highlight the importance of differentiating HD from mimickers through careful clinical evaluation, targeted investigations, appropriate genetic testing, and advanced neuroimaging tools. By addressing these challenges, we can ensure timely diagnosis and tailored treatments for chorea, ultimately improving the lives of patients and their families in the MENA region and beyond. ❞
Dr. Shivam Mittal
Section Head and Consultant Neurologist, Parkinson Disease & Movement Disorders Program, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE
Mr. Cagdas Canbolat
Patient Advocate at Galactosialidosis Network and Board Member of International Society of Mannosidosis & Related Diseases, (ISMRD), London, UK
❝ I’m delighted to be joining the MENA Congress for Rare Diseases to talk about the work we, as the patient advocacy community, have done to progress treatment options for the metabolic disorder, Galactosialidosis. Initially, we established The Galactosialidosis Network in the UK as a source of support and advocacy for individuals grappling with this ultra-rare inherited metabolic disorder. My interest in patient advocacy was born out of a deeply personal journey with my daughter, Clara, who battled this condition and sadly passed away on 6 March 2024. During our fight to save her life, our network gained global reach, fueled by the collaboration of devoted parents, clinicians, and our partnership with ISMRD—a champion for rare diseases worldwide—and Metabolic Support UK. It was challenging to garner interest from pharmaceutical companies for various reasons. Nevertheless, our mission swiftly expanded to embrace all children confronting Galactosialidosis. We were able to highlight the prevalence of rare diseases on a global scale, raising awareness and offering support to families in need. Our vision extended far beyond this, driving meaningful change by fostering collaboration between families, clinicians, and the scientific community. By leveraging my professional experience, we empowered the parent community to actively contribute to the pursuit of approved, enduring therapies for this rare disease. In less than a year, with a well-planned communication strategy and a focus on relationship-building, we successfully brought together all key stakeholders, including scientists and parents in this field. We equipped them with knowledge and advocated for groundbreaking scientific advancements. During this time, we earned the trust of both the scientific and patient communities, gaining the confidence to champion the needs of the rare disease community effectively. We are now very close to achieving an effective treatment after submitting a successful FDA application for the AAV8 therapy. This was made possible because we led and mobilized key individuals and organizations worldwide. It will be a great opportunity to share our journey at the MENA Congress for Rare Diseases and discuss the next steps needed to bring us even closer to our goal of initiating a clinical trial without further delay. ❞
Mr. Cagdas Canbolat
Patient Advocate at Galactosialidosis Network and Board Member of International Society of Mannosidosis & Related Diseases, (ISMRD), London, UK
Prof. Jordi Surralles
Director, Sant Pau Hospital Research Institute and Professor, Universitat Autonoma of Barcelona, Barcelona, Spain
❝ It is a great pleasure to actively participate in this important conference on rare diseases, where I hope to expand my network of contacts and collaborators in the Middle East and North Africa region. This event is one of the most significant in the world in the field of rare diseases, where international collaboration plays a crucial role in translating advanced research into patient care. This translation is essential not only for improving diagnostic healthcare and shortening the diagnostic odyssey for many patients and their families but also for advancing genomic medicine, personalized treatments, and innovative therapies such as gene therapy and drug repurposing. I look forward to sharing my experience in translational research, from bench to clinical trials, with all attendees and to establishing meaningful scientific collaborations. ❞
Prof. Jordi Surralles
Director, Sant Pau Hospital Research Institute and Professor, Universitat Autonoma of Barcelona, Barcelona, Spain
Prof. Eman Gaad
Dean of Faculty of Education and Professor of Special and Inclusive Education, British University in Dubai, Dubai, UAE
❝ This conference is gaining strength every year. The amount of information, support, and new knowledge that are offered in this conference are immense. I had the privilege to speak and to present. I certainly look forward to learning at next year's congress ❞
Prof. Eman Gaad
Dean of Faculty of Education and Professor of Special and Inclusive Education, British University in Dubai, Dubai, UAE
Ms. Hadeel Iraq
Nutrition and Obesity Care Specialist, Family and Weight Management Clinic, Mavis Medix Clinic, Mississauga, Ontario, Canada
❝ It is my honor to participate in this esteemed gathering focused on rare diseases in the MENA region. The noble aim of this conference—to enhance the health and quality of life for individuals affected by rare diseases, particularly in our region—resonates deeply with my professional commitments. Conferences of this caliber are invaluable for fostering knowledge exchange and collaboration and play a crucial role in advancing our collective understanding and improving patient care. As a nutrition specialist and healthcare professional, I am dedicated to improving the lives of those grappling with metabolic disorders, including weight-related issues, alongside the unique challenges posed by rare diseases. This gathering provides a crucial platform for sharing expertise in dietary interventions and learning about the latest advancements in rare disease management. I extend my sincere gratitude to all involved in organizing and contributing to this event. Your efforts are vital in advancing our understanding and improving care for those with rare diseases in our MENA region. Together, we can make significant strides in enhancing the quality of life for these individuals and their families. ❞
Ms. Hadeel Iraq
Nutrition and Obesity Care Specialist, Family and Weight Management Clinic, Mavis Medix Clinic, Mississauga, Ontario, Canada
Dr. Mohammad Yousuf
Pharmacist, Clinical Pharmacy Department, Sheikh Shakhbout Medical City, Abu Dhabi, UAE
❝ The MENA Congress for Rare Diseases is a unique scientific event in the region. I am honored to be a speaker and moderator at this congress. I will be sharing insights into the background of pharmacoeconomics and patient access to innovative treatments within the healthcare system in the UAE. ❞
Dr. Mohammad Yousuf
Pharmacist, Clinical Pharmacy Department, Sheikh Shakhbout Medical City, Abu Dhabi, UAE
Dr. Hatim Sidahmed
Head of Cord Blood Bank, M42, Abu Dhabi, UAE
❝ I am delighted to share that I have been granted the privilege to speak at the MENA Congress for Rare Diseases 2025. This significant event is a remarkable opportunity for experts, researchers, and healthcare professionals from across the region to come together and discuss the latest advancements and challenges in the field of rare diseases. The congress is a real chance to foster collaboration, share knowledge, and promote innovative solutions to improve the lives of patients affected by rare diseases. Through a series of presentations and panel discussions, the event will provide a dynamic platform for attendees to exchange ideas and insights. I strongly encourage all delegates to participate actively and contribute to our collective effort in advancing rare disease research and treatment. Your engagement and inputs will be invaluable in making this congress a success. ❞
Dr. Hatim Sidahmed
Head of Cord Blood Bank, M42, Abu Dhabi, UAE
Prof. Haleama Al Sabbah
Professor, Department of Public Health, College of Health Sciences, Abu Dhabi University, Abu Dhabi, UAE
❝ Join me for a transformative experience at the MENA Congress for Rare Diseases! I’m thrilled to present “Nutritional Challenges in Managing Rare Diseases,” where we’ll explore how innovative nutrition strategies can significantly enhance patient care. It is your chance to be part of the conversation that will shape the future of rare disease management. Don’t miss this opportunity. Your insights and engagement are keys to making a real impact! ❞
Prof. Haleama Al Sabbah
Professor, Department of Public Health, College of Health Sciences, Abu Dhabi University, Abu Dhabi, UAE
Dr. Elena Zhekaite
Associate Professor and Senior Researcher, Research Centre for Medical Genetics, Moscow, Russia
❝ Professional knowledge and willingness to share experiences make this congress truly valuable and productive. As a doctor, it is a great honor for me to present the results of the scientific work of a large team together with such enthusiastic and dedicated specialists. The topics for discussion inspire further development and the search for new solutions in medicine. Thank MENA Congress for Rare Diseases for openness, willingness to engage in dialogue, and commitment to making the world of health a better place. I hope that this congress will become not only a platform for the exchange of experience, but also a source of new ideas and inspiration. ❞
Dr. Elena Zhekaite
Associate Professor and Senior Researcher, Research Centre for Medical Genetics, Moscow, Russia
Ms. Tanuka Gupta
Neuroaffirming Senior Clinical Psychologist, Al Noor Training Centre for People of Determination, Dubai, UAE
❝ Join me at the MENA Summit for Autism and Neurodivergence, an exciting part of the MENA Congress for Rare Diseases 2025! This event is a unique opportunity to contribute to the advancement of our region. I am looking forward to this opportunity to chair a session on discussing various ways to foster understanding of autism from a neuro-affirmative lens, share cutting-edge insights and innovative practices, and advocate for inclusive policies that enhance the lives of autistic individuals and families across the MENA region. As a neurodivergent professional, I am incredibly passionate about cultivating a neuro inclusive culture because inclusion is not a privilege but a right connected to the fundamental human value of belonging. ❞
Ms. Tanuka Gupta
Neuroaffirming Senior Clinical Psychologist, Al Noor Training Centre for People of Determination, Dubai, UAE
Prof. Mohamed Yassin
Head of Hematology Department, Senior Consultant Hematology and BMT, and Program Director of Hematology Fellowship Program, Hamad Medical Corporation, Doha, Qatar
❝ It is truly an honor to be part of the MENA Summit for Hemoglobinopathy, where we come together to share insights, advancements, and strategies for addressing hemoglobin disorders. With my background in hematology, I look forward to engaging in meaningful discussions that drive innovation and enhance patient care. I look forward to an insightful session with all of you. ❞
Prof. Mohamed Yassin
Head of Hematology Department, Senior Consultant Hematology and BMT, and Program Director of Hematology Fellowship Program, Hamad Medical Corporation, Doha, Qatar
Mrs. Duaa AbuRizik
CEO of Life and Health Insurance in Gulf Insurance Group and Foster Mother of Child with developmental delay and a genetic mutation in PRRT2 gene, Kuwait
❝ As a dedicated adoptive mother of a child with a rare disease, I am honored to share my journey at the MENA Congress for Rare Diseases. My speech will focus on the intricate path of diagnosis and the transformative experience of motherhood when raising a child with special needs. I aim to shed light on the emotional and practical challenges faced during this journey, as well as the profound joys that come with it. Through my story, I hope to inspire and empower others navigating similar paths, fostering a deeper understanding and connection within our community. ❞
Mrs. Duaa AbuRizik
CEO of Life and Health Insurance in Gulf Insurance Group and Foster Mother of Child with developmental delay and a genetic mutation in PRRT2 gene, Kuwait
Dr. Karolina Podolska
Internal Physician, Accredited Duchenne Centers Program Manager, and Coordinator of Center for Adults with DMD, General University Hospital in Prague, Prague, Czech Republic
❝ Improving care for rare disease patients requires global collaboration and continuous inspiration from various parts of the world. MENA Congress for Rare Diseases will be a wonderful opportunity to share experience in the field of Duchenne muscular dystrophy and to gain knowledge and learn about care approaches in different regions than I am used to working in. ❞
Dr. Karolina Podolska
Internal Physician, Accredited Duchenne Centers Program Manager, and Coordinator of Center for Adults with DMD, General University Hospital in Prague, Prague, Czech Republic
Mrs. Annie Kapinda
Diploma in Early Childhood Education, Founder of Anastasia Creation Handwork, and Mother of Child with Aicardi Syndrome, Dubai, UAE
❝ I am deeply honored and grateful to have been invited to speak at the MENA Congress for Rare Diseases. This platform holds immense significance, bringing together incredible minds, advocates, and change-makers dedicated to improving the lives of individuals affected by rare diseases. As a parent navigating life with a child with special needs, the journey can be challenging, but it is also filled with lessons in resilience, hope, and the power of community. The Congress provided a space to share my story, connect with others who understand, and amplify the voices of families like mine. Together, we are fostering awareness, support, and positive change for those living with rare diseases. ❞
Mrs. Annie Kapinda
Diploma in Early Childhood Education, Founder of Anastasia Creation Handwork, and Mother of Child with Aicardi Syndrome, Dubai, UAE
Mrs. Laura Laugier
Founder of Neurodiverse Families Events and Mother of a Child with Cri du Chat Syndrome, Dubai, UAE
❝ Having spoken at the conference last year, I consider it a privilege to return. I look forward to sharing what this journey with rare disease has taught me alongside other parents. ❞
Mrs. Laura Laugier
Founder of Neurodiverse Families Events and Mother of a Child with Cri du Chat Syndrome, Dubai, UAE
Mr. Rifaat Rawashdeh
DOH Licensed, ABGC Certified Genetic Counselor, Oncology Institute, Cleveland Clinic Abu Dhabi, UAE
❝ Participating in the annual MENA Congress of Rare Diseases provides an invaluable experience to engage with leading experts and stakeholders to share insights and discuss breakthroughs in this field. The inclusion of a dedicated genetic counseling conference is particularly vital as it addresses the growing need for specialized support in understanding and managing the genetic aspects of rare diseases, ultimately improving outcomes and quality of life in the MENA region. ❞
Mr. Rifaat Rawashdeh
DOH Licensed, ABGC Certified Genetic Counselor, Oncology Institute, Cleveland Clinic Abu Dhabi, UAE
WELCOME LETTER
Prof. Ayman El-Hattab
Congress President, MENA Congress for Rare Diseases
Professor, College of Medicine, University of Sharjah, Sharjah
Consultant Clinical Genetics at Burjeel Medical City, University Hospital Sharjah, Kanad Hospital, and Genesis Healthcare Center, UAE
Under the patronage of H.E. Sheikh Nahayan Mabarak Al Nahyan, Cabinet Member and Minister of Tolerance and Coexistence, the MENA Congress for Rare Diseases 2025 in partnership with Burjeel Medical City will take place from 17 to 20 April 2025 at Beach Rotana Hotel, Abu Dhabi, United Arab Emirates.
The previous MENA Congress for Rare Diseases 2024 held on 16-19 May 2024 in Abu Dhabi, turned out to be the largest event for rare diseases and a key milestone in showcasing the regions dedication to improving the lives of individuals afflicted with these disorders. It was attended by 1105 delegates with 17% coming from 47 countries outside the UAE. The meeting was held over 4 full days and consisted of 39 sessions including 139 presentations given by 141 speakers, including 51 international experts coming from 27 different countries. The presentations received very high evaluations as the vast majority of the attendees (96.7%) scored the presentations as above average. The congress also received 78 high-quality scientific abstracts related to different aspects of rare diseases. The abstracts were featured as oral presentations and posters and published in the PubMed Central-indexed scientific journal Therapeutic Advances in Rare Disease. The top 7 abstracts were awarded and assigned oral presentations. The congress was held under the patronage of H.E. Sheikh Nahayan Mabarak Al Nahyan who attended the opening ceremony and gave the opening speech. The congress received the support of 34 scientific partners including UAE University, Abu Dhabi University, Ajman University, Rare Disease International, and Undiagnosed Disease International. The congress also received marketing support from 23 media partners including Balsam, Medarabia, and Rare Evolution Magazine; and was covered by key media and news outlets during and after the meeting including WAM (https://wam.ae/en/article/b36k5bz), Aletihad, and Albayan.
Our upcoming meeting, MENA Congress for Rare Diseases 2025 in partnership with Burjeel Medical City, Beach Rotana Abu Dhabi, 17-20 April 2025, will continue to be the largest event for rare diseases in the region. It will last for 4 full days with more than 150 speakers including more than 70 international speakers with expertise on various topics related to rare diseases including advances in understanding rare diseases, artificial intelligence, best-practices for management, novel therapies, updates on diagnostics, research and innovation, gene and cell therapy, preventive medicine, genetic counseling, rare blood disorders, rare neurologic diseases, rare ophthalmologic disorders, rare surgical cases, autism and neurodivergence, dental care, rehabilitation, nutritional support, inclusion and diversity, patient advocacy, psychosocial challenges, access to orphan drugs, media awareness, insurance coverage, Angelman syndrome, and Huntington disease.
More than 1500 attendees are expected to participate with more than 25% coming from outside the country. The meeting will be attended by healthcare providers including medical doctors from variable specialties, dentists, nurses, dietitians, physical, speech, and occupational therapists, pharmacists, laboratory personnel, and genetic counselors, medical and medical sciences students, researchers, scientists, and educators, and individuals with rare diseases and their families. Laboratories, pharmaceutical companies, clinics and hospitals, academic institutions, community services, and support and advocacy groups will also participate.
Again, the upcoming congress will accept scientific abstracts that will be presented as posters and will be published in a scientific PubMed Central-indexed journal. The top abstracts will be awarded and presented as oral presentations. Furthermore, the Award for Outstanding Achievement in Rare Diseases will be launched during the meeting and honored to pioneers in the field of rare diseases including researchers, healthcare providers, advocates, patients and their caretakers, and institutions. This award will be distributed during the opening ceremony of the congress.
Burjeel Medical City (BMC) remains the meeting partner and the major supporter for this congress. BMC is a 400-bed multispecialty hospital and quaternary care center located in Abu Dhabi, UAE. It is the region’s complex care hub with over 60 adult and pediatric specialties, aided by state-of-the-art medical technology and an international team of experts. The 1.2 million-square-foot hospital is a flagship facility under the Burjeel Holdings umbrella. It is renowned for key specialties including oncology, hematology, bone marrow transplantation, neurosurgery, multi-organ transplantation, advanced orthopedic surgery, pediatric subspecialties, fetal medicine, nuclear medicine, and advanced gynecology. BMC harbors the Center for Research on Rare Blood Disorders (CR-RBD), one of the region’s leading research hubs with a global portfolio of high impact publications, international guidelines, and various observational studies and clinical trials of novel therapeutics designed to improve the outcomes of patients with rare blood disorders (https://burjeel.com/burjeelmedicalcity)
This conference is a unique platform that brings all stakeholders involved in rare diseases to one place to obtain the most updated knowledge, exchange experience, advance research, establish networks, and explore new horizons and collaborative opportunities aiming ultimately to provide better care for individuals with rare diseases.
We look forward to seeing you among us at the MENA Congress for Rare Diseases 2025 in partnership with Burjeel Medical City.
Congratulations to the Abstract Winners
1st
Dr. Lama AlAbdi
Scientist and Section Head of Developmental Genetics, Translational Genomics Department, Centre For Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
2nd
Dr. Suki Malhi
Senior Vice President, Clinical Development Operations, Wave Life Sciences, Lexington, Massachusetts, USA
3rd
Ms. Ayat Kadhi
Lecturer, University of Doha for Science and Technology and PhD Candidate, Hamad Bin Khalifa University and Sidra Medicine, Doha, Qatar
4th
Dr. Elena Zhekaite
Associate Professor and Senior Researcher, Research Centre for Medical Genetics, Moscow, Russia
4th
Ms. Hind Almarri
Master of Genetic Counseling Student, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE
4th
Dr. M-Hossein Moeinzadeh
Guest scientist at Max Planck for Molecular Genetics and CTO and Co-Founder of Lucid Genomics, Berlin, Germany
5th
Dr. Valerie Jacquemin
Geneticist Post-Doctoral Fellow, Human Genetics Department, CHU Liege, Liege, Belgium
TOPICS COVERED
Novel therapies for rare diseases
Updates on diagnostics for rare diseases
Artificial intelligence and rare diseases
Research and innovation in rare diseases
Gene and cell therapy
Genetic counseling
Hemoglobinopathies
Rare ophthalmologic disorders
Rare malignancies
Rare immune diseases
Angelman syndrome
Huntington disease
Duchenne muscular dystrophy
Limb girdle muscular dystrophies
Autism and neurodivergence
Genomics and rare diseases
Metagenomics in rare diseases
Newborn screening
Best practices for management of rare diseases
Dental care for rare diseases
Rehabilitation for rare diseases
Nutritional support for rare diseases
Pharmacoeconomics
Access to orphan drugs
Inclusion and diversity
Patient advocacy for rare diseases
Psychosocial challenges in rare diseases
Media awareness and rare diseases
Insurance coverage for rare diseases
Challenging cases in rare diseases
Patients’ experiences and insights
Compassionate healthcare
PARTICIPANTS
Medical doctors from variable specialties and dentists
Nurses, dietitians, therapists, and genetic counselors
Pharmacists and laboratory personnel
Medical and medical sciences students
Researchers, scientists, and educators
Individuals with rare diseases and their families
Laboratories and pharmaceutical companies
Clinics and hospitals
Academic institutions
Community services
Support and advocacy groups