Professor of Paediatric Endocrinology, University of Lagos, Nigeria. Honorary Consultant Paediatric Endocrinology, Lagos University Teaching Hospital
Head of Department, Department of Paediatrics CMUL/LUTH
Chief Coordinator, Pediatric Endocrinology Training Center for West Africa
Lagos University Teaching Hospital (LUTH). Lagos, Nigeria
Her interests include Pediatric Care and Pediatric Endocrine and Metabolic Disorders. She currently has a proposal for the Mphil/Ph.D. program in Pediatric Endocrinology at the College of Medicine, University of Lagos.
Past President of ASPAE
President Society of Paediatric and Adolescent Endocrinology for Nigeria (SPAEN)
Delivered her Professorial Inaugural Lecture titled Hypo and Hyper – the enigma of life at the University of Lagos.
Awarded the 2019 ESPE International Outstanding Clinician Award

Dr Asmahan T Abdalla, MD paediatrics, Sudan
PETCA Paediatric Endocrinology fellowship, Kenya
Working as a Paediatric Endocrinologist and Diabetologist at Sudan childhood diabetes centre with special interest in bone diseases and metabolic disorders
Changing diabetes in children manager, Sudan office
Founder of rare and genetic clinic in Khartoum, December 2018

Professor Atul Mehta trained in Medicine at Cambridge University and Kings College London; did postgraduate training at Imperial College, London (Hammersmith Hospital) and was Consultant Haematologist and Professor of Haematology at the Royal Free and University College Hospitals in London until his retirement in January 2019.
He ran the general laboratory haematology diagnostic service for many years at the Royal Free. His special interests in Haematology were Myeloma and molecular diagnostics.
He was the Founder and Director of the Lysosomal Storage Disorders Centre at the Royal Free, which grew to be the largest centre in the UK and one of the foremost clinical academic centres for LSDs in the world. He has published more than 250 peer reviewed articles in research journals, 40 chapters and three books .

He now works in private practice, charitable, educational and research roles, including consultancy.

Clinical Pharmacist / Medical Biotechnology Executive with leadership experience in both global market leader companies and early stage start-ups. Expertise in international market development, global medical affairs, clinical education and professional development, technical medical writing / training, clinical research, product launches, and KOL relationship development.

Primary career focused on developing business in markets with unmet medical needs. Domestic and international experience. BS Pharmacy.

Gregory M. Pastores MD is a Clinical Professor (Emeritus) in Genetic Medicine, University College Dublin, Ireland. Prior, he had been on the Faculty of Mount Sinai and NYU School of Medicine, both in New York. He graduated from the University of Sto. Tomas in Manila (1983) and received his training in Pediatrics and Genetics at the Mount Sinai Medical Center in New York (1989) and at the Mayo Clinic in Minnesota (1991).

Joseph Muenzer, MD, PhD, is a Professor of Pediatrics and Genetics in the Department of Pediatrics at the University of North Carolina at Chapel Hill (UNC-CH), where he has practiced since 1993. He received a Doctor of Medicine degree (1976) and PhD in biochemistry (1979) from Case Western Reserve University in Cleveland, Ohio. He completed a residency in pediatrics at the University of Wisconsin Hospitals, Madison, and a genetic/endocrine fellowship at the National Institute of Child Health and Human Development, NIH, in Bethesda, Maryland.

Dr Muenzer is actively involved in the diagnosis, management and treatment of patients with inborn errors of metabolism, especially the mucopolysaccharidoses (MPS) and infants detected by tandem mass spectrometry newborn screening. He is board certified in pediatrics and clinical biochemical/molecular genetics.

He has been actively involved in developing new treatments for the MPS disorders. He has created a mouse model for Hunter syndrome (MPS II) to aid in development of new treatment for MPS II. Historically, his clinical research focused on the development of intravenous enzyme replacement therapy for the mucopolysaccharidoses. Dr Muenzer has been a principal investigator for intravenous recombinant enzyme replacement clinical trials for both MPS I and MPS II. He is a principal investigator for the phase I/II and the phase II/III intrathecal enzyme replacement clinical trial for the severe form of Hunter syndrome and a principal investigator for a gene editing clinical trial for adults with MPS II.

Dr Kandi Catherine Muze is a Pediatrician and Paediatric Endocrinologist. Currently is the Head of Pediatric Endocrinology Unit in Muhimbili National Hospital in Dar es Salaam, Tanzania. The Hospital is the largest and Referral Hospital in the Country
She pursued her Fellowship in Paediatric Endocrinology from the Pediatric Endocrinology Training Centre for Africa (PETCA) program based in Nairobi, Kenya, in 2009. She is also involved in teaching pediatric postgraduate and undergraduate students.
Apart from interest in various Pediatric endocrinology issues she has interest in Inborn errors of metabolism especially in Gaucher disease, a condition which can now be diagnosed and treated with Enzyme replacement therapy received from donors.

Nataliia Samonenko graduated from Vinnitsa National Medical University in 2002 with a degree in pediatrics. For 2 years she worked as a pediatrician in the small town of Shostka in Ukraine. Since 2004 she entered the clinical residuology in pediatrics at the National Medical Academy of Kyiv. After graduation, she worked as a pediatrics unit at the National Children's Hospital "OKHMATDYT" in Kyiv, Ukraine. Since 2011 works as a pediatrician of the Center for Orphan Diseases. In 2017, she received a specialization in genetics. In 2020, she headed the advisory department of the Center for Orphan Diseases of the National Children's Hospital "OKHMATDYT" and is a PhD-student.
Trained in 2012 in the Metabolic Center of Institute Mother and Child Warsaw, Poland, in 2019 Medical Education an Awareness Program for Genetic and Metabolic Disease at Duke University, North Carolina, USA.
Dr. Samonenko is one of the active members of genetic and paediatric associations in Ukraine. She is adopts in scientific and educational programs for the dissemination of knowledge on orphaned metabolic diseases. She is a consultant of the Ministry of Health of Ukraine.

Dr. Roberto Giugliani, MD, PhD, Full Professor at the Department of Genetics of the Federal University of Rio Grande do Sul, is a medical geneticist who founded and is an active member of the Medical Genetics Service of the University Hospital, in Porto Alegre, Brazil. He also founded “House of Rares”, a Brazilian initiative for the care and diagnosis of patients with rare diseases. He is a member of many international committees, consultant for several companies and Head of Rare Diseases of the DASA/GENEONE group. He is also Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening, Chairman of the Latin American School of Human and Medical Genetics, and Member of Brazilian Academy of Sciences. He is past President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening, the Latin American Network of Human Genetics, and the Brazilian Society of Medical Genetics and Genomics, and former Director of the WHO Collaborating Centre for the Development of Medical Genetics Services in Latin America. Prof. Giugliani’s main interests are concentrated in screening, diagnosis, and treatment of inborn errors of metabolism, particularly of lysosomal storage diseases, having being the PI of over 50 clinical trials, supervised the training of over 100 MSc and PhDs, and being author of more than 500 scientific papers.

Dr Tuschka Reynders finished her PhD in molecular biochemistry in 2002 at the Rand Afrikaans University, after which she completed her B-Dietetics degree (Cum Laude) at the University of Pretoria in 2005. She currently runs her own private practice in Pretoria, South Africa and works as a consultant for most cases diagnosed with genetic defects. Tuschka has been specialising in dietary management of Inborn Errors of Metabolism and the Ketogenic diet (for intractable epilepsy) for 16 years. Helping children (and adults) with genetic defects such as Inborn Errors of Metabolism or other special needs, is her absolute passion. She has given various presentations locally and abroad and has published articles in peer reviewed journals.

Uma Ramaswami FRCPCH, MD (Royal Free London Hospitals, University College London Partners)
Uma is a Consultant in Inherited Metabolic Disorders and Clinical Lead for the Lysosomal Disorders
Unit at the Royal Free Hospital, London and an Honorary Senior Research Associate, Genetics and
Genomics Department, University College London. Uma has a special interest in clinical research
relating to understanding of the natural history and disease progression of inherited metabolic
disorders. Uma leads transition services for young patients with inherited metabolic disorders and is the
national clinical lead for the UK paediatric familial hypercholesterolaemia register. Uma has been a
principal investigator and co-investigator for many pivotal clinical trials for lysosomal disorders. Uma
has over 150 research works with 5200 citations, h-index 35, i10-index 62. Uma is a guest editor for
Frontiers in Genetics and authored several chapters in metabolic medicine. Uma is a National Institute
of Clinical Excellence (NICE) topic expert for FH and Lysosomal Disorders, Communicating Editor
for Journal of Inherited Metabolic Disorders (JIMD), member of the teaching faculty at University
College London, and an invited speaker at many national and international conferences, including
patient organisation led conferences.

Dr Elikplim Ama Ahiable is a 27 year old general practitioner in Ghana. She graduated from University of Ghana Medical School with an MBChB and MSc in Medical Sciences. She has been a member of Rare Disease Ghana Initiative since its inception. She is an avid reader with a special interest in fictional novels authored by African writers. She loves to travel to the Ghanaian countryside in her spare time.