RARE X 2024 CONFERENCE

Provisional Programme

Wednesday, 14 February 2024
08h30 - 10h00	Session 1: Policy: Looking towards a brighter future
08h30 - 08h45	Welcome and introduction Ms Kelly du Plessis Rare Diseases South Africa
08h45 - 09h10	Address by National Department of Health
09h10 - 09h30	Commitment to the rare disease and congenital disorder community Dr Praveena Sukhraj-Ely National Department of Women, Youth and Persons with Disabilities (DWYPD)
09h30 - 10h00	Living with SMA while managing accessibility and the understanding of what that means Ms Kerry Walsh Kerry Walsh Trust
10h00 - 10h20	Tea / Coffee Break
10h20 - 12h15	Session 2: Global perspectives on policies relating to access
10h20 - 10h40	Defining Rare: What does it mean to be "Rare"? Associate Prof Helen Malherbe Rare Diseases South Africa
10h40 - 11h00	WHO commitment to rare diseases WHO Representative
11h00 - 11h20	The African Medicines Agency Ms Chimwemwe Chamdimba African Medicines Agency
11h20 - 11h40	The National Health Laboratory Service (NHLS) and rare diseases Associate Prof George van der Watt National Health Laboratory Service
11h40 - 12h00	Developing innovative & sustainable models for access to rare disease medicines in Low and middle-income countries (LMIC) -The example of South Africa Prof Fatima Suleman World Health Organisation / University of Kwazulu Natal
12h00 - 12h15	Q&A
12h15 - 13h30	Lunch
13h30 - 15h00	Session 3a Data & Research	Session 3b Community Engagement
13h30 - 13h42	An overview of data & research issues in rare diseases Prof Michéle Ramsay Sydney Brenner Institute for Molecular Bioscience	A Family Centric Approach Mr Hedley Lewis CHOC
13h42 - 13h54	Overview of the International Rare Diseases Research Consortium (IRDiRC) Dr David Pearce International Rare Diseases Research Consortium	Community advisory boards for rare diseases Mr François Houÿez EURORDIS Rare Diseases Europe
13h54 - 14h06	Recruitment strategies for a non-hospital based academic biobank in South Africa Dr Elne Conradie North-West University	Addressing challenges of inclusion, equity, and diversity for rare disease patients Ms Malebo Malope Stellenbosch University
14h06 - 14h18	Patient-Initiated Rare Disease Registry for South Africa Ms Kelly du Plesses Rare Diseases South Africa	Patient perspective (interview format) Ms Miracle May Moebius Support SA
14h18 - 14h30	Patient Perspectives of Sickle Cell Disease Care in Emergency Centre's of South African Hospitals Ms Nabeelah Peerbhai University of Cape Town	The negative impact medical pricing and policy issues has on patients living with a rare disease in South Africa Ms Belinda Nell Caregiver
14h30 - 14h42	The burden of hereditary angioedema in South Africa in 2023: A patient survey Ms Janice Strydom Hereditary Angioedema Foundation of SA	Transplant Conversations: Transplant education for medical staff, patients and the public Mrs Stella de Kock Transplant Education for Living Legacies (TELL)
14h42 - 15h00	Q&A	Q&A
15h00 - 15h15	Tea / Coffee Break
15h15 - 17h00	Session 4: Clinical Trials (Panel Discussion)
15h15 - 17h00	Clinical trials: what, where, why, how & who - Mr Peter Bach, BioPharmaLogic Understanding clinical trial possibilities and limitations - South African Health Products Regulatory Authority (SAPHRA) Practicality and efficiency in clinical trials for rare diseases - Ms Catherine Lund, OnQ Patient engagement in clinical trials - Mrs Tasnim & Iman Casoojee, Cure SMA When your clinical trial becomes permanent- Mr Luc McIntosh, Patient Real World Evidence (RWE) and rare diseases- Mr Arshad Hassim, Aurum Institute
17h00	Cocktail Reception

Thursday, 15th February 2024
08h30 - 10h00	Session 5: Rare Diseases in Africa - The Continental Impact
08h30 - 08h50	The rare disease landscape in Sub-Saharan Africa Associate Prof Helen Malherbe Rare Diseases South Africa
08h50 - 09h10	Universal Health Coverage for Rare Diseases Ms Alexandra Heumber Perry Rare Diseases International (RDI)
09h10 - 09h30	New Centre of Excellence for Rare Diseases Ms Nadia Bodkins, Prof Mapeseka Seheri Sefako Makgatho Health Sciences University
09h30 - 09h50	Africa Rare Disease Alliance (ARDA): Continental Overview ARDA Members
09h50 - 10h00	Q&A
10h00 - 10h20	Tea / Coffee Break
10h20 - 12h15	Session 6: Health Technology Assessment (HTA)
10h20 - 10h40	What is HEA and why do we need it for rare diseases? Prof Alex van den Heever University of the Witwatersrand
10h40 - 11h00	Public sector view Mr Andy Gray University of KwaZulu-Natal
11h00 - 11h20	Private sector view Ms Niri Bhimsan Discovery Health
11h20 - 11h40	ISPOR & improving HTA’s in South Africa – the role of patients Ms Laurenne James ISPOR South Africa
11h40 - 12h00	Patient perspective: Patient involvement in HTAs Ms Lauren Pretorius Campaigning for Cancer
12h00 - 12h15	Q&A
12h15 - 13h30	Lunch
13h30 - 15h00	Session 7a: Data and Research	Session 7b: Coordinated & Multidisciplinary Care
13h30 - 13h42	The sub-Saharan African Congenital Anomalies Network (sSCAN): a regional network to optimize care and research in congenital anomalies and other rare diseases Associate Prof Helen Malherbe Rare Diseases South Africa	Multi-disciplinary care – what is it, who does it and how does it work? Prof Christian Hendriksz A Rare Cause
13h42 - 13h54	The relevance & impact of H3Africa for rare disease patients in Africa Dr Zane Lombard University of Witwatersrand /National Health Laboratory Services	Role of genetic counselling in the RD community Ms Monica Araujo University of Witwatersrand / National Health Laboratory Services
13h54 - 14h06	Transitioning to the new redcap SA Haemophilia Registry – first steps at red cross war memorial children’s hospital Dr Yasmin Goga Red Cross Childrens War Memorial Hospital	Traditional medicine & rare diseases in Africa: culture, religion, stigma & community Mr Elliot Mqansa Makhathini University of KwaZulu-Natal
14h06 - 14h18	The genetics of Neuromuscular Diseases in South Africa: current outcomes of the ICGNMD study Prof Francois Van Der Westhuizen North-West University	Developing Consensus statements for the Care of Patients with Epidermolysis Bullosa in South Africa: A Multidisciplinary Approach Dr Antoinette Chateau University of KwaZulu Natal
14h18 - 14h30	Utilizing Multi-OMICS Technologies to Unravel Molecular Mechanisms of Orphan Diseases in Low-and-Middle-Income-Countries: A Focus on Konzo Dr Matthew Bramble Childrens’ National, Washington DC, USA	The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa Ms Meghan Duvenhage University of Witwatersrand / National Health Laboratory Services
14h30 - 14h42	A Southern African Multiple acyl-CoA dehydrogenase deficiency cohort: clinical, biochemical, and genetic spectrum Ms Michelle Bisschoff North-West University	RDSA Project diagnosis & Lab Hub Ms Ankia Greyling Rare Diseases South Africa
14h42 - 15h00	Q&A	Q&A
15h00 - 15h15	Tea / Coffee Break
15h15 - 17h00	Session 8a: Omics in Africa Chair: TBC	Session 8b: The Diagnostic Odyssey Chair: TBC
15h15 - 15h30	The Nngwe initiative – Ending the diagnostic odyssey using Omics Prof Chris Vorster North-West University / Nngwe	Navigating the Diagnosis Journey: A Patient Perspective Mrs Stacey Leslie Andrea's Gift Foundation
15h30 - 15h45	Sharing is caring: Towards democratizing genomic data in South Africa Mr Jaco Oosthuizen University of the Free State	Ending the diagnostic odyssey for South African patients with rare developmental disorders – the DDD-Africa study Ms Zandisiwe Goliath University of Witwatersrand
15h45 - 16h00	Study design and getting the right story out of your data: making proteomics data for profiling and diagnosis possible at scale Dr Liam Bell Centre for Proteomic & Genomic Research (CPGR)	Untold Stories: South African Dysautonomia Patients Share Their Experiences of Diagnostic Delay Ms Jana Fokkens Dysautonomia Support SA
16h00 - 16h15	Sharing small molecules on a big scale: A proposal for collaborative metabolomics for rare disease characterisation and diagnosis Dr Ilse du Preez North-West University	Navigating Whole Genome Sequencing Frontiers: A Parent's Journey with Online Consumer DNA Kits in Rare Disease Diagnosis Ms Beth O’Conner-Cilliers Parent
16h15 - 16h30	Functional studies: a key outcome tool for a multi-omics approach to rare disease diagnostics Prof Francois van der Westhuizen North-West University	Bulletproof: A mother’s uphill battle for her children’s survival Mrs Chantal Mackenzie Caregiver
16h30 - 17h00	Q&A	Q&A
19h00	Conference dinner

Friday, 16th February 2024
08h30 - 10h00	Session 9: Access to innovation
08h30 - 08h50	Medical education programs in Low- and Middle-Income Countries is not a lost cause! Prof Christian Hendriksz A Rare Cause
08h50 - 09h10	Risk equalization Models Mr Charlton Murove Board of Healthcare Funders
09h10 - 09h30	NDOH View on access to innovation limitations Ms Khadija Jamaloodien National Department of Health
09h30 - 10h00	Challenges of treating a rare disease in Rwanda Prof Christian Hendriksz A Rare Cause
10h00 - 10h20	Tea / Coffee Break
10h20 - 12h15	Session 10: The local rare disease landscape and its challenges
10h20 - 10h40	Update on Implementation of SA Clinical Guidelines for Human Genetics guidelines Dr Manala Makua National Department of Health
10h40 - 11h00	Council for Medical Schemes: PMB legislation CMS Representative
11h00 - 11h20	Legal overview on where rare diseases fit into SA law and legislation Ms Elsabé Klink Elsabé Klink & Associates
11h20 - 11h40	Rare Disease Access Initiative Ms Meliska Volschenk Sanofi
11h40 - 12h15	Q&A
12h15 - 13h30	Lunch
13h30-15h00	Session 11a: Policy	Session 11b: Supportive Care
13h30 - 13h45	Influencing Health and Education Policy in Tanzania: The Role of Ali Kimara Rare Disease Foundation (AKRDF) Dr Mohamedraza Ebrahim Al Kimara Rare Disease Foundation / Aga Khan Hospital Tanzania	SA Palliative care guidelines & implications for RD patients Dr Michelle Meiring Paedspal
13h45 -14h00	NBS policy: from global to local Prof Chris Vorster North-West University / Nngwe	Respite care for rare diseases in SA – is there any? Ms Tersia Burger Association of Palliative Care Centres / Stepping Stones Hospice
14h00 - 14h15	Transitional care in Africa: living beyond expectancy Prof Mignon McCulloch Red Cross War Memorial Children's Hospital / University of Cape Town	What is psychosocial support & who provides it? Ms Nomsa Mtshali Rare Diseases South Africa
14h15 - 14h30	The impact of Covid-19 on rare disease patients in South Africa Ms Marianne Gomes PathCare	HCP compassion fatigue & burnout Drs Kim and Rob Ballantine Patient / Caregiver
14h30 - 14h45	Africa roadmap project Ms Roselyn Odero International Gaucher Alliance
14h45 - 15h00	Q&A	Q&A
15h00 - 15h15	Tea / Coffee Break
15h15 - 17h00	Session 12a: Diagnostics	Session 12b: Innovative Patient Care
15h15 - 15h30	Expect the unexpected: Inborn errors of metabolism diagnosed in early/late adulthood Dr Marli Derckson North-West University	Challenges and health system strengthening opportunities identified to support the detection and assessment of congenital disorders in the UBOMI BUHLE Pregnancy Exposure Registry Cohort Ms Hlalalisani Mahlaba UBomi Buhle Pregnancy Exposure Registry
15h30 - 15h45	An update on advocacy efforts for rare diseases in South Africa Associate Prof Helen Malherbe Rare Diseases South Africa	Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Rarity of diagnosis and difficulty accessing treatment: Dr Anele Dube Pule Kwazulu Natal Provincial Department of Health
15h45 - 16h00	Exploring gene mutations and secondary mitochondrial disease in a patient with neuromuscular diseases. A diagnostic odyssey Dr Maryke Schoonen North-West University	Nova, Teaching with Alternative Communication Mrs Dionne Snyders Parent
16h00 - 16h15	STAC3 variants cause a congenital myopathy with distinctive dysmorphic features in African paediatric patients Dr Tendai Makwikwi North-West University	Moving beyond verbiage Mr Andrew Miller Freelance Journalist & Patient
16h15 - 16h30	Proposal for selection criteria for Newborn screening disorders Ms Brenda Klopper North-West University	A brighter and more inclusive future for those affected by achondroplasia Mrs Chantelle Hall Parent
16h30 - 16h45	Q&A	Q&A
16h45 - 17h00	Plenary: Call to action & conference closure: Ms Kelly du Plessis Conference Chair
19h00	Speaker dinner (by invitation only)

Saturday, 17 February 2024 (Open to support groups / patients and caregivers / patient advocates)
08h30 - 17h00	Advocacy in Action - Capacity Building (Sponsored by Rare Diseases International, Novartis & Boehringer Ingelheim
08h30 - 12h30	Fundraising Workshop Facilitated by Michelle Stein - Handmade Fundraising PULSE Training - Strategic development of Vision, Mission and Strategic overview Faciliated by Kelly du Plessis - Rare Diseases South Africa
12h30 - 13h30	Lunch & talk Compassion fatigue and burnout: Drs Rob and Kim Ballantine
13h30 - 17h00	Closed Meeting for National Alliances Understanding Policy and engaging policy makers Facilitated by Veronica Lopes – VLG Consulting
19h00	Dinner for Patient Organisations / Patient Advocates and Support Group Representatives