Dr. Ali is a medical geneticist and rare disease drug developer with track record of successfully developing therapies for ultra-rare disorders including lysosomal storage diseases.

Dr. Ali founded qRare International (www.qrareintl.com), a California-based boutique consulting company, with focus on deciphering genomics and developing therapeutics while advising a myriad of international health care systems, molecular diagnostic labs, contract research organizations, biotechnology and pharmaceutical companies.

Dr. Ali continues to consult on families with rare and undiagnosed genetic diseases.

Dr. Adams is an Associate Professor in the Division of Child Neurology, URMC and a member of the UR Batten Center. She is a pediatric neuropsychologist and clinical child psychologist whose research focuses on neurobehavioral phenotyping, quality of life, adaptive function, and natural history of NCL disorders and other neuronopathic pediatric rare diseases. Dr. Adams’ other rare disease activities include clinical consultation/clinical service, consultation to C-PATH, and Chair of the PCORI Rare Disease Advisory Panel.

Dr. An Haack is a pediatrician who specializes in Rare Diseases. She has over 25 years of experience in Academia, Research, Drug Development and Project Direction. At Sanofi, she has held roles of increasing responsibilities in Rare Diseases Clinical Research and Development. Dr. An Haack is also the Medical Leader of Sanofi’s Pediatric Medicines Network. In her free time, she enjoys spending time with family and friends, music, sports, reading and gardening.

Dr. Auray-Blais is the Director of the Provincial Neonatal Urine Screening Program for hereditary metabolic disorders in Sherbrooke, QC (3 650 000 newborns screened). She holds a Ph.D. in radiobiology from the Faculty of Medicine and Health Sciences (FMHS) at the Université de Sherbrooke and postdoctoral studies from Duke University Medical Center, NC. Dr. Auray-Blais has a Master’s degree in Health Law and is a full professor in Genetics (FMHS). Mass spectrometry approaches are used for research.

Professor Brian Bigger is Chair of Advanced Therapeutics at the University of Edinburgh, UK, with a BSc in Applied Biology and PhD in mitochondrial gene therapy.

Brian has 25+ years of experience in AAV, lentiviral and non-viral vectors, is board member of the European Study Group for Lysosomal Diseases and has licensed therapies to industry, including scientific co-founder of Orchard Therapeutics.

He holds >£30M in grants, including two clinical trials for therapies from the lab.

Dr. Braunlin is a pediatric cardiologist with a special focus on MPS and other lysosomal storage diseases. Since 1983, she has evaluated >200 individuals with MPS who have undergone BMT or ERT. She is also a basic scientist with an interest in the cardiac features of MPS mice, their underlying pathophysiology and the effects of novel therapies to improve current outcomes of treatment. Dr. Braunlin also has an interest in patients with Fabry and Pompe disease.

Danielle is the Global Scientific Advocacy and Insights Lead for Medical Affairs, Rare Disease at Sanofi. She advocates for the understanding and use of rare disease evidence by health care decision makers. She has experience in the operations of and leads patient initiatives for the LSD registries. Danielle is a genetic counselor who has worked clinically with patients and families. Currently, she serves on the Patient Centered Outcomes Research Institute (PCORI) Rare Disease Advisory Panel.

Dr. Ellinwood has longstanding research experience with the mucopolysaccharidosis and mucolipidosis disorders. He is the Chief Scientific Officer at the National MPS Society, where he guides research to benefit patients. He has an over two decades long association with the Society. He is a Professor Emeritus (Iowa State University), where he conducted basic and applied research on the neuropathic MPSs. He has experience mentoring colleagues from the level of undergraduate to the professoriate.

Dr. Escolar is Chief Medical Officer at Forge Biologics, a Professor of Pediatrics at the University of Pittsburgh, and Founder of the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at UPMC Children’s Hospital of Pittsburgh. She has more than 25 years of experience as a practicing clinician and researcher and is internationally known for her work in neurodevelopment of children with leukodystrophies, mucopolysaccharidosis and other genetic neurodegenerative conditions.

Professor Maria Fuller received her PhD from the University of Adelaide in gene therapy. Following post-doctoral studies in lysosomal disorders, then leading her own research group, she established a Translational Unit as a forum for moving research outcomes into practice. Currently, as the Clinical Scientist of the National Referral Laboratory, her main role is the provision of diagnostic services for the Australian population, notably for lysosomal disorders, underpinned by an active research and teaching program.

Dr. Giraldo is a hematologist, a tenured professor, and the director of PhD program in Health Sciences at San Jorge University. She is also the President of the FEETEG Spanish Foundation, the President of the Spanish Group on Lysosomal Disorders (GEEDL), a member of the IWWGD. Dr. Giraldo also serves on the expert committee in the task force Gaucher Disease of the EHA. Dr. Giraldo also organizes face-to-face training courses on LSD.

Dr. Giraldo has more than 190 articles published on LSD and rare hematological disorders, and is the editor of 6 Spanish monographs on GD. In addition, she is the Editor-in-chief of en-LISOS Spanish Journal.

Roberto Giugliani is a professor at the Department of Genetics, UFRGS, and founder of the Medical Genetics Service, HCPA , in Porto Alegre, Brazil. He is also the President of “Casa dos Raros”, a comprehensive center for rare diseases in Brazil, and Head of Rare Diseases at Dasa Genomics. Prof. Giugliani’s main interests are concentrated in lysosomal diseases, having supervised the training of over 100 MScs and PhDs, and being author of more than 500 scientific papers.

Dr. Goker-Alpan is the Founder and Chief Medical Officer at LDRTC, with over 20 years of experience in the rare diseases field. She is a world-renowned clinician and translational scientist in rare genetic and lysosomal storage disorders, training new generation of physicians and advocacy patient groups. At LDRTC, Dr. Goker-Alpan oversees multiple scientific projects exploring immune pathways and lysosomal functions to develop new diagnostic and monitoring tools in LSDs and GBA-related Parkinsonism.

Dr. Grabowski has mentored over 80 MDs and PhDs in his career, with nearly all of them being Full or Associate Professors, as well as several Department Chairs, Division Chiefs or high-level executives/scientists in private corporations. Dr. Grabowski’s approach to mentoring is Empowerment and Accountablity. Dr. Grabowski believes his insights can be shared and have been successful. 

Dr. Haskins spent 40 years at the veterinary school, at the University of Pennsylvania, finding dog and cat models of human genetic disease, in particular lysosomal storage diseases, to study pathogenesis and approaches to therapy including bone marrow transplantation, enzyme, and gene therapy.

Dr. Horowitz has been interested for many years in the molecular mechanisms underlying Gaucher Disease and the contribution of protein misfolding to the pathogenesis associated with Lysosomal Storage Disorders. Using Drosophila as the model organism, her lab has shown that misfolding of mutant glucocerebrosidase, whose activity is decreased in Gaucher Disease, has a role in development of Parkinson disease. Dr. Horowitz’s lab also documented misfolding of mutant alfa GalA in Fabry disease and its amelioration by migalastat.

Dr. Mohammad is currently serving as a Medical Advisor within the Clinical Development Division at JCR Pharmaceuticals Ltd. He has extensive experience in clinical research, education, and patient care. Educated at renowned institutions, Dr. Mohammad has contributed significantly to the field of lysosomal storage disorders and medical genetics. His accolades include multiple Young Scientist Awards and pivotal research publications. With a profound understanding of clinical trial management and medical advisory, Dr. Mohammad’s expertise promises valuable insights and guidance for emerging professionals in the medical field.

Jeanine Jarnes, PharmD, MSc Pharmacogenomics, is an Assistant Professor at the University of Minnesota Department of Pediatrics, Medical School, an adjunct assistant professor in the College of Pharmacy, University of Minnesota and a pharmacotherapy provider for patients with lysosomal diseases. Dr. Jarnes’s research focus includes: gangliosidosis diseases, pharmacogenomics, small molecule and gene therapies, classifying and managing infusion reactions to intravenous enzyme replacement therapies (ERT), and pharmacokinetics and pharmacodynamics of enzyme replacement, small molecule therapies and gene therapies.

Priya Kishnani is the Chen Family Distinguished Professor of Pediatrics, Division of Medical Genetics chief, and professor in the Department of Molecular Genetics and Microbiology at Duke University.

Kishnani has conducted groundbreaking clinical and translational research in the fields of lysosomal storage diseases and glycogen storage diseases. Kishnani has been instrumental in the development of alglucosidase alfa and has shown commitment to understanding the natural history and evaluation of therapies of several LSDs and GSDs.

Dr. Kubaski is a staff scientist in the Biochemical Genetics Laboratory at Greenwood Genetic Center. She has a PhD in Genetics and Molecular biology (Udel), and a Post-doc in Genetics and molecular biology (UFRGS). Dr. Kubaski has been involved with research for inborn errors of metabolism, and most specifically lysosomal disorders, for over 10 years to apply tandem mass spectrometry for diagnosis, treatment monitoring, and newborn screening for these diseases.

Dr. Malte Lenders studied Biology at the WWU Muenster, Germany focussing on genetics and biotechnology. Since 2011 he works at the Fabry disease center (University Hospital Muenster, Germany) and is jointly responsible for progressing research projects. His main research interests are genetic predisposition, genotype-phenotype associations and function of genes in inherited inborn errors with a focus on Fabry disease. Furthermore, he is interested in mechanisms involved in arterial stiffness, endothelial dysfunction, and immunologic processes.

Dr. Ortolano has a PhD in Biochemistry and Molecular Cytogenetics; Postdoc: NIAID, NIH, in Bethesda, USA (2002-2005) and at the Venetian Institute of Molecular Medicine, Italy (2005-2008). Since 2008 at IISGS, Spain, Dr. Ortolano currently leads the Group of Rare Disease and Pediatric Medicine. Her team studies molecular bases of lysosomal diseases and new treatments, and have developed a vector for FD gene therapy. Dr. Ortolano is an inventor of international patents: “Use of pharmacological chaperones for the treatment of lysosomal diseases.”

Dr. Patterson is a child neurologist with clinical and research experience in lysosomal disorders since my fellowship with Roscoe Brady at NIH in 1990-1992. He has participated in multiple clinical studies, including the pivotal trial that led to the approval of miglustat for Niemann-Pick disease, type C in the European Union. Dr. Patterson currently serves as Editor of JIMD and Editor-in-Chief of the Journal of Child Neurology, and Professor (Neurology, Pediatrics, Medical Genetics) at Mayo Clinic.

Dr. Prada finds it an honor to work with children, adults, and families with genetic diseases. Dr. Prada has conducted randomized clinical trials of lysosomal storage disorders, neurofibromatosis type 1, RASopathies, mTORopathies, and several natural history studies of genetic disorders in partnership with family groups and foundations. In 2021, Dr. Prada joined Lurie Children’s and the Feinberg School of Medicine at Northwestern University as the Division Head of Genetics, Genomics and Metabolism.

Dr. Michael Przybilla is an Assistant Professor in the Department of Pediatrics, Division of Pediatric Genetics & Metabolism. Dr. Przybilla received his PhD in Molecular, Cellular, Developmental Biology and Genetics from the University of Minnesota in 2018 and continued his work as a postdoctoral associate in the Gene Therapy and Diagnostics Laboratory. Currently, Dr. Przybilla’s work focuses on therapeutic development for lysosomal disorders, including gene therapy and gene editing, small molecules, and small activating RNA.

Dr. Biliana Veleva-Rotse, PhD serves as the Global Medical and Medicines Lead for Fabry Disease at Amicus Therapeutics. She received her PhD in neuroscience at the Oregon Health and Science University in Portland, Oregon in 2015, and followed that with a postdoctoral fellowship studying mechanisms of myelin repair. Since 2016, she has been working in Medical Affairs, where she helps drive development of therapies that positively impact patient lives.

Dr. Schiffmann is a neurologist with special competence in child neurology, and currently is a Professor in the department of Internal Medicine in Texas Christian University at Fort-Worth, Texas. Previously, he performed pre-clinical and clinical research, mainly on lysosomal diseases, at the National Institutes of Health and at the Baylor Institute of Metabolic Disease in Dallas, Texas for a combined total of 30 years. His publication record and scientific impact can be viewed here.

Benedikt Schoser is a professor of neurology and senior consultant neurologist at Friedrich-Baur Institute, Dep. of Neurology, LMU Munich, Germany. He is a fellow of the EAN and board member of the World muscle society executive board. Since 2015, Prof. Schoser has co-chaired the European Pompe Consortium (EPOC). He has authored more than 330 peer-reviewed publications (>65 in glycogen storage diseases). Prof. Schoser is especially interested in the therapy of multisystemic neuromuscular and metabolic disorders.

Ellen Sidransky, MD, is the Branch Chief of the Medical Genetics Branch and is a pediatrician and geneticist in the National Human Genome Research Institute at National Institutes of Health (NIH). Dr. Sidransky received her B.A. from Brandeis University and her M.D. from Tulane University. She trained in pediatrics at Northwestern University, and in Clinical Genetics at the NIH. Dr. Sidransky has been a tenured NIH investigator and Section Chief since 2000. Her research interests include both clinical and basic aspects of Gaucher disease and Parkinson disease, studies of genotype/phenotype correlation and genetic modifiers, insights from mouse models, and novel treatment strategies. She played a lead role in establishing the association between glucocerebrosidase and parkinsonism.

Bob Stevens is a “Rare” dad. He is a Group CEO of a 40 year-old patient organisation and clinical trial support & research subsidiary, and a global advocate and motivational speaker. From campaigning for newborn screening to meeting industry leaders and politicians, he understands that it’s a community-focus. With 20 years in the “Rare” community, he still gets up every day wanting to make a difference, to challenge and inspire. It’s not a job but a way of life.

Danilo Tagle is currently Director, Office of Special Initiatives at the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) where he leads efforts in developing innovative tools and technologies that can greatly accelerate development of diagnostics and therapeutics. These programs involve interdisciplinary collaborations between intramural and extramural components of NIH, and entail partnerships with other agencies, such as FDA, NASA and DARPA, as well as with private sector.

Beth Thurberg, MD, PhD served as Vice President and Head of Global Discovery Pathology at Sanofi Genzyme for 20 years. Her laboratory at Sanofi Genzyme provided pathology expertise and analysis of preclinical studies and human biopsies from Phase 1 through Phase 4 clinical trials. She is a world-recognized expert in the pathophysiology of lysosomal disease and was responsible for the clinical trial pathology leading to the development and FDA approvals of multiple enzyme replacement therapies.

Dr. Wang is the Director of the Multidisciplinary Lysosomal Storage Disorder Program at CHOC, a board-certified clinical geneticist and biochemical genetics specialist, a CIRM and NIH-funded physician scientist overseeing a translational research laboratory assessing CRISPR genome editing as therapy for inherited disorders, and clinical trial investigator for multiple interventional studies concerning lysosomal storage disease.

Following a 30-year academic career focused on glycogen storage disease management and research, Dr. Weinstein led gene therapy trials for LSDs in industry. He is now consulting for rare disease trials. He was a Goldwater Scholar, and was honored with the Jan Albrecht Award from the AASLD and the George Sacher Award from the Gerontological Society of America. In 2013, he was knighted in Poland and received the Order of the Smile international humanitarian award. 

US transplants for lysosomal diseases 1983, the proof-of-principle systemic treatments. Coined “ultra-orphan disease” in 1990’s. First gene-therapy for mucopolysaccharidosis condition (Hunter syndrome 1998). Invented MPStest® for GAG introduced by Zebraic Corporation (1999), simultaneously associating the “zebra” with “rare conditions”. Discovered MPS I pseudo-deficiency. Pre-clinical assessment of Sangamo’s gene-editing for MPS. Co-inventor of PS Gene-editing System™. Founded International Symposium on Mucopolysaccharidosis and Related Diseases (1988). NIH-funded “Gene Therapy for Metabolic Disease” and “Lysosomal Disease Network”.

Dr. Zimran has studied Gaucher disease, both basic science and clinical research, during the past 3 decades, including leading roles in almost all clinical trial of this super model for rare diseases at large. Dr. Zimran has also organized annual meetings on rare diseases mainly in Europe and currently have founded AGYANY Pharmaceuticals – a company developing specific therapy for GBA1 related Parkinson’s disease, leveraging knowledge from academia to drug development.