Dr. Andrea Dardis obtained a MS degree in Biochemistry and then a PhD in Molecular Biology at the University of Buenos Aires, Argentina. She continued her training at the Metabolic Unit, University of California, San Francisco, USA as a post-doctoral fellow. During her training she was awarded Fellowship of the Lawson Wilkins Pediatric Endocrine Society. She then moved to Italy, where she got a Specialist Degree in Medical Genetics at the University of Genoa. In 2003 she joined the Metabolic Diseases Unit, Pediatric Hospital “Burlo Garofolo”, Trieste, Italy, directed by Dr. Bruno Bembi as a Research Scientist. In 2009 she moved to the Regional Coordinator Centre for Rare Diseases in Udine, Italy, where she became Head of the Laboratory.

She is responsible for the “Biobank of ALS, Neuromuscular and Lysosomal Diseases” of the Uni-
versity Hospital of Udine.

Dr. Dardis activities are mainly focused on the biochemical and molecular diagnosis of lysosomal
storage diseases, the functional characterization of defective lysosomal enzymes and the study
of molecular mechanisms involved in the pathogenesis of lysosomal storage disorders.

Professor Ari Zimran is the Former Director of the Gaucher Unit at Shaare Zedek Medical Center in Jerusalem, Israel. This is the world’s largest referral center for Gaucher disease, where more than 750 patients are followed and about 350 patients are treated with enzyme replacement therapy.

Professor Zimran developed his interest in Gaucher disease during his fellowship at the Scripps Research Institute, Department of Molecular and Experimental Medicine, in La Jolla, California, USA under the mentorship of Professor Ernest Beutler.

Professor Zimran has published more than 290 professional papers and reviews, and has edited three books; he has been a leader in clinical trials for new treatments for Gaucher disease, including Cerezyme, Zavesca, VPRIV, and Elelyso.

Arndt Rolfs, MD, Professor for Neurology and Psychiatry, is appointed CEO and founder of Centogene AG, and Director of the Albrecht-Kossel-Institute for Neuroregeneration at the University of Rostock, Germany.

He received his approbation for human medicine in 1985 from the University of Mainz, Germany, and the University of Vienna, Austria.

Arndt is a principal investigator of several international multicentre studies in the area of rare diseases and actively engaged in biomarker research for several metabolic diseases.

Arndt is a principal investigator of several international multicenter studies in the area of rare diseases, including the Sifap project (www.sifap.eu), the world’s largest study in young stroke patients related to Fabry disease, several biomarker studies (e.g. BioHAE, BioGaucher, BioHunter, BioMorquio) and epidemiological studies in neurogeneticaetiologies.

Arndt has an extensive track record in medical and scientific publications with more than authored/contributed to 250 peer-reviewed publications and acts as a consultant for international biotech and industrial companies and is also a consultant for the EMA and FDA.

Atul trained in Medicine at Cambridge University and Kings College London; did postgraduate training at Imperial London (Hammersmith Hospital) and was a consultant Haematologists at the Royal Free and University College Hospitals in London until his retirement in January 2019.

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

Birgitte is a senior executive and industry R&D leader who brings outstanding experience in rare disease research and development and commercialization, with a focus on innovative therapeutic modalities including gene therapy.

She previously served as senior vice president and head of rare diseases R&D and medical affairs at GSK in the UK, where she oversaw an innovative rare diseases portfolio including ex vivo gene therapy programs for orphan disease indications.

Prior to GSK, Birgitte was chief medical officer and SVP, head of development at Swedish Orphan Biovitrum (SOBI), leading the development of their portfolio in rare diseases including hemophilia, inflammation, neonatology and genetic metabolic diseases.

In addition, Birgitte has held senior R&D and medical affairs positions with Genzyme, Pharmexa, and Amgen, where she led early and late-stage programs and worked with product commercialization from pre-approval to launch and lifecycle management.

Birgitte serves on the advisory board of the World Orphan Drug Congress and as a non-executive director at Ascendis Pharma and Soleno Therapeutics.

In the past, she has served on the boards of Wilson Therapeutics and Trial Form Support International CRO. She received her  MD and Ph.D. degrees from Copenhagen University, Denmark, where she is now an external lecturer.

Christina Lampe is Director of the Centre for Rare Diseases of the Department of Child Neurology, Epileptology, and Social Medicine, Center for Paediatric and Adolescent Medicine at the University Hospital of Giessen, Germany.

Dr. Lampe’s main interests are craniocervical stenosis and skeletal problems in MPS. After studying medicine at the Humboldt-University of Berlin (Charité), Berlin, Germany, she completed her internship at the Surgical Department of the same university. Since 2007, she has been a consultant in surgery. During 2007, Dr. Lampe first worked in surgical private practice and then changed to the Villa Metabolica at the Department of Paediatric and Adolescent Medicine, University Medical Centre of the Johannes Gutenberg-University of Mainz, Germany, where she worked as the attending physician for 150 pediatric and adult patients with mucopolysaccharidosis (MPS). In January 2014, together with Professor Maurizio Scarpa, Dr. Lampe set up a Centre for Rare Diseases at the Dr. Horst Schmidt Kliniken in Wiesbaden, Germany. Since October 2018, she set up a Center for Rare Diseases at the University Hospital in Giessen (ZSEGI), Germany.

Dr. Lampe is an investigator and co-investigator of several clinical trials on lysosomal diseases. Dr. Lampe is a member of the ASIM and APS (German metabolic societies). She is a Scientific Advisor for the German MPS Society and Medical Advisor of the Brains for Brain Foundation.

Dr. Lampe’s research has been published in journals including the Journal of Inherited Metabolic Disease, Rheumatology, Molecular Genetics and Metabolism, PLOS ONE and Orphanet.

Disclosures: Dr. Lampe has received speaker fees and travel expenses as well as honoraria from BioMarin, Alexion, Actelion, Amicus, Sanofi Genzyme, and Takeda/Shire and Chiesi.

Eriene is a pharmacist with over 16 years of diverse clinical research experience, predominantly within neurological and psychiatric disorders, including pediatric rare diseases. 

She joined Prevail Therapeutics in 2019 as the Medical Director for the neuronopathic Gaucher disease clinical research program. Prior to joining Prevail, she served as a Sr. Principal Scientist at Hoffmann-La Roche, where she had clinical and scientific responsibilities for multiple research programs from preclinical through Phase 2.

Prior to her time at Roche, Eriene worked within Clinical Development at Janssen LP, a division of J&J. She has worked in a variety of healthcare settings, including as a Consultant Pharmacist for the State of NJ, primarily in Greystone Park Psychiatric Hospital.

Eriene received her BS and Doctor of Pharmacy from the Ernest B Mario School of Pharmacy at Rutgers University.

Fernanda Torquati was born in El Paso, Texas (USA) on November 1, 1950. Her family moved to Italy in September of 1964 and after attending high school she worked for the University of Florence. Her son was diagnosed with Gaucher’s disease in 1989 at 8 years of age (and he had problems since he was a baby). 

She founded the Italian Gaucher Association in 1992 and has been President since then. 

She is now retired although she continues her dedication towards the Association to support and stay close to all the Italian Gaucher patients.

Gheona Altarescu obtained her magna cum laude diploma in Medicine at the Jassy University of Medicine and Pharmacy, Romania. She performed her training in medical genetics at the National Institutes of Health, Bethesda, USA during the years 1997 to 2000 under the supervision of Dr. Roscoe Brady. During this period of time, she treated more than 100 patients with different lysosomal storage diseases: Gaucher disease type I, II and III, Fabry disease, Mucolipidosis type IV, Hunter, and Hurler disease and performed basic molecular research in the field of lysosomal storage disorders.

She is board certified in clinical and molecular genetics. Upon returning to Israel she established the Preimplantation Genetic Diagnosis Clinic and Lysosomal diseases Clinic at the Shaare Zedek Medical Center in Jerusalem.

The clinic is the largest of its kind in Israel and performed preimplantation genetic diagnosis for more than 1000 different genetic disorders including lysosomal storage diseases (Gaucher, Fabry, and Hunter syndrome) resulting in the birth of 1300 healthy children since the year 2005.

Since the developments in the field of noninvasive prenatal testing, her lab is developing new techniques for very early non-invasive prenatal testing for monogenic disorders.

Gheona Altarescu has published almost 100 peer-reviewed papers in the field of lysosomal diseases and preimplantation genetic diagnosis and is currently an Associate Professor of Genetics at Hebrew University Hadassah Medical School, Jerusalem and the Director of the Preimplantation Genetic Unit and Lysosomal diseases Clinic at Shaare Zedek Medical Center, Jerusalem.

Prof. Ida Vanessa Doederlein Schwartz, MD, PhD
Dep. Genetics, UFRGS and Med Genet Serv, HCPA, Porto Alegre, Brazil.

Graduated in 1994, starting residency in clinical genetics in 1995, a Masters in 1998, and a Ph.D. in 2000 on Mucopolysaccharidoses. Currently, she is an associated professor of the Genetics Department of the Federal University of Rio Grande do Sul (UFRGS), and a permanent professor of the Post Graduate Programs in Genetics and Molecular Biology, and in Medical Science, at UFRGS, and coordinates the Gaucher and the Small Molecules Clinics at the Medical Genetics Service-Hospital de Clinicas de Porto Alegre, Brazil.

Among the awards and recognition received, some stand out, such as L’OREAL /Brazilian Academy of Sciences for Women in Science (2007), and affiliation to the Brazilian Academy of Sciences (2008). She performed many trainee and Post-Doctorate periods abroad in the area of metabolic diseases. She has more than 170 papers indexed in PUBMED.

Research in the laboratory of Professor Janet Sparrow is directed toward understanding the composition of the visual cycle adducts (bisretinoids) that constitute the lipofuscin of retinal pigment epithelium (RPE); the structures, spectral characteristics and photoreactive properties of these bisretinoid fluorophores; the mechanisms by which they form, undergo photodegradation and exert adverse effects on photoreceptor cells and RPE. We also explore therapies (gene therapy and small molecules) aimed at reducing bisretinoid accumulation.  Our studies have contributed to the clinical interpretation of fundus autofluorescence images and to the development of an approach to quantifying fundus autofluorescence (qAF) intensities in both humans and mice. We have also elucidated previously unrecognized phenotypes. Our work impacts several retinal disorders including retinitis pigmentosa and macular degeneration, both inherited and age-related forms.

Jeff Szer was the foundation Professor/Director of the Department of Clinical Haematology at Royal Melbourne Hospital. He leads the non-malignant hematology group of the Department of Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital established in 2016 and has research interests in stem cell transplantation and the non-malignant conditions of Gaucher disease and paroxysmal nocturnal haemoglobinuria (PNH).

He has authored over 330 papers in peer-reviewed journals and is the Editor-in-Chief of the Internal Medicine Journal and on the Editorial Boards of Blood Reviews, Blood Cell Therapy, BMC Haematology, Blood Cells Molecules, and Diseases and Bone Marrow Transplantation.

He is the current President of the World Marrow Donor Association.

Dr. Manisha Balwani is an Associate Professor in the Department of Genetics and Genomic Sciences and Medicine at the Icahn School of Medicine at Mount Sinai. Her clinical interests include Lysosomal Storage Diseases and the Porphyrias. She is the Director of the Lysosomal Disease Program and the Comprehensive Porphyria Diagnostic and Treatment Center at Mount Sinai.

Dr. Balwani completed her medical training at the University of Bombay, followed by a Master’s in Genetics at the University of Pittsburgh. She completed her training in Internal Medicine followed by a fellowship in Medical Genetics and Clinical Biochemical Genetics. She joined the faculty of the Department of Genetics and Genomic Sciences at the Mount Sinai School of Medicine in 2006.

Her initial research efforts were focused on the natural history of and genotype-phenotype correlations Gaucher disease. She was the Principal Investigator for therapeutic clinical trials for new therapies for Gaucher disease and Lysosomal Acid Lipase Deficiency. Her recent research efforts have been focused on the acute and cutaneous porphyrias. She is an investigator for the NIH supported Rare Diseases Clinical Research Network’s Porphyrias Consortium.

She is a member of the scientific advisory board of the Lysosomal Acid Lipase registry and International Collaborative Gaucher Group.

Maria Fuller is a clinical scientist specialising in biochemical genetics within Genetics and Molecular Pathology at South Australian Pathology that provides diagnostic services for inherited metabolic disorders. She is a fellow of the Royal College of Pathologists and a technical assessor for the National Association of Testing Authorities in Australia. Her laboratory is committed to improving the efficiency of diagnosis of these rare disorders, notably lysosomal storage disorders, by employing platforms of multiplexed biomarkers characteristic for the specific types and sub-types of disease. Her particular research interests are in understanding the cascade of events that lead to pathology and new approaches for the treatment and diagnosis of lysosomal diseases. Her laboratory has contributed 90 articles and book chapters to the scientific and medical literature. In addition, Maria also holds an academic title at the University of Adelaide and enjoys supervising post-graduate students, as well as providing training for undergraduate students by hosting clinical placements within her laboratory.

MD (Paed), DCH, DNB (Paed), MRCP (Ire),
CCST-Clinical Genetics (RCP, UK)
Senior Consultant in Clinical Genetics,
Professor & Mazumdar-Shaw Research Chair,
Centre for Human Genetics,
Biotech Park, Bangalore

Clinical affiliations:

• Centre for Human Genetics, Bangalore
• Indira Gandhi Institute of Child Health
• Bangalore Fetal Medicine Centre
• Sri Siddhartha Medical College, Tumkur
• University Gold medallist: MBBS and MD
• Clinical interests: Dysmorphology, syndromes associated with congenital heart disease, lysosomal storage disorders, and genetic counseling
• Over 50 publications and 3 book chapters
• Member/ Expert on task forces in the Department of Biotechnology, ICMR and Department of Science and Technology, India