Prof Rosser Torra - Barcelona, Spain

Prof. Roser Torra runs an Inherited Kidney Diseases Clinic at the Nephrology Department of the Puigvert Foundation in Barcelona, Spain, Professor of Medicine at the Autonomous University of Barcelona. She started her work in inherited kidney disorders in 1994 and did her PhD on molecular genetics of ADPKD in 1997 at the University of Barcelona. Since then she has been involved in clinical practice and research into genetic renal diseases including ADPKD, Fabry disease, Alport syndrome, ARPKD, TSC, ADTKD and FSGS. She has published over 140 national and international publications about hereditary kidney diseases H index 46 (From Google Scholar). She currently participates in multiple inherited kidney disorders trials, supervises doctoral theses on inherited kidney disease and acts as reviewer in this filed for several journals, meetings, and project evaluating agencies and acts as expert for governmental agencies.
She's member of the council of the ERA-EDTA since June 2020.

Tatevik Yezekyan - Armenia

Fabry patient

Tatevik Yezekyan from Armenia is 31 years old and is currently living and working in Italy.She holds a PhD in Agricultural engineering and is working as a Quality Assurance Engineer at Fonderia Corra.

"Nothing in life happens by chance", more than once life proved this to her, life is unpredictable, she has overcome many difficulties in her road, but every achievement motivates her to do more in spite of the existing limitations.

Dr Anael Khan – Calgary, Canada

University of Calgary, Canada

Dr. Aneal Khan is a Paediatrician and Medical Geneticist with more than 16 years of experience diagnosing and treating rare genetic diseases.

The primary goal of Dr. Khan’s research is to investigate novel methods of treatment of childhood onset genetic diseases. As a pediatrician, medical geneticist and metabolic diseases specialist, his clinical research has primarily included subjects with inborn errors of metabolism. Currently, he is involved as a principal investigator in 15 clinical trials from novel therapies to next generation sequencing for mitochondrial disorders, bone imaging in metabolic diseases, metabolic cardiomyopathies and rare disease registries. In 2014, his group at the Alberta Children’s Hospital was the first in Canada to use liver cell transplant to treat urea cycle disease. In February 2017, as a principal investigator, for a pan-Canadian group, they were the first in the world to treat Fabry disease with ex vivo gene therapy and the first group in Canada to treat a human with an inborn error of metabolism with gene therapy at Foothills.

He is situated at Alberta Children’s Hospital in Calgary and the University of Calgary and cares for both pediatric and adult patients.

Dr Nadia Ali - Atlanta USA

Emory University, USA

She is Director of Psychological Resources for the Emory Genetic Clinical Trials Center, where she participates in clinical drug trials for genetic conditions, as well as conducting her own clinical research into neurocognitive and psychological manifestations of lysosomal storage diseases and other metabolic disorders. She is co-author of the book, "Transitions: Managing Your Own Healthcare: What Every Teen with an LSD Needs to Know."

Dr. Ali also serves as Co-Assistant Director of the Emory Genetic Counseling Master's degree training program, where she trains future genetic counselors in the counseling skills necessary for compassionate, effective patient care. Dr. Ali earned her doctorate in Clinical Psychology from the University of South Florida and completed both an internship in Neuropsychology and a post-doctoral fellowship in Health Psychology.

Dr Alberto Ortiz - Madrid, Spain

Jiménez Díaz Foundation and Autonomous University of Madrid, Spain

Alberto Ortiz is Chief of Nephrology and Hypertension at the Health Research Institute of the Jiménez Díaz Foundation (IIS-FJD UAM), Madrid, Spain, and Professor of Medicine at the Autonomous University of Madrid (UAM). Professor Ortiz’s research interests include the pathogenesis and treatment of acute kidney injury, diabetic nephropathy and proteinuric chronic kidney disease, vascular injury in kidney disease, Fabry disease, and systems medicine.

He is Editor-in-Chief of the Clinical Kidney Journal, an editorial board member of the Journal of the American Society of Nephrology, a council member of the European Renal Association (ERA-EDTA), a member of European Uremic Toxins (EUTox) Work Group and European Renal Best Practice (ERBP) Organization, coordinator of the Spanish Renal Research Network (REDINREN), ERA-EDTA Award for Research Excellence 2020, Distinguished Fellow of the ERA-EDTA, and corresponding member of the Spanish Royal National Academy of Medicine.

Prof Dominique Germain – Garches, France

National Center for Fabry disease, France

Doctor Dominique P. Germain is Professor of Medical Genetics at the University of Versailles(UVSQ), and head of the Division of Medical Genetics at the Raymond Poincaré Hospital (AP-HP) in Garches, France.

He is also Director of the French Referral Center for Fabry disease in Garches, France. In 2016, Prof Germain was appointed Director of a European Referral Centre for rare disorders (MetabERN: rare metabolic diseases) at the Hôpitaux Universitaires Paris Ile de France Ouest. In 2017, he also became the Director of a Centre of Expertise for developmental disabilities band rare disabling congenital malformations. He has a strong interest in enzyme replacement therapies, chaperon therapies, the genetics of neuro-muscular diseases, and the use of clinical exome sequencing for deciphering unknown disabling genetic diseases. Throughout his career, Prof Germain has contributed extensively on the topics of Fabry disease and hereditary diseases of connective tissue. He has written several book chapters and has published over 130 peer-reviewed papers in medical journals.

Dr Seema Kanwa - Vancouver, Canadal

Dr. Kanwal has been a practicing naturopathic doctor in Vancouver since 2006 and is the only Naturopathic doctor trained in Canada in the Apo E Gene diet.

She has extensive experience with and is passionate about working with individuals who have rare genetic diseases and suffer many stress related conditions as a result such as mental health issues, insomnia, and low energy. She helps to guide people living with rare diseases to increased mental wellness, energy, vitality and an overall higher standard of life – they often didn’t know was possible to experience with their condition.

She has 10 years of experience in sport medicine and treating a wide range of conditions such as cancer, hormonal imbalances for women and men, stress related conditions, pre and post natal care, cardiovascular disease, chronic fatigue, autoimmune, thyroid imbalances, digestive issues (IBS, Chron’s, Candida), Alzheimer’s (through the APOE Gene), sports related injuries and many more.

Dawn Laney - Atlanta, USA

Emory University, GA, USA

Dawn Jacob Laney is a genetic counselor, assistant professor, clinical researcher, program leader of the lysosomal storage disease center, and director of the Emory Genetic Clinical Trials Center in the Department of Human Genetics at Emory University in Atlanta, Georgia. Her clinical and research interests focus on Fabry disease.

She is a cofounder of ThinkGenetic, Inc., which empowers patients with information about possible genetic causes for their medical issues and provides real-life answers to their questions about the impact of living with a genetic disease. Ms. Laney enjoys writing children’s books (most of which are about living with Fabry disease).

Dr Heather Lau – New York, USA

Dr Heather Lau, M.D. M.S. is a board-certified neurologist with special qualifications in child neurology with additional fellowship training in Neurogenetics and an MS in biochemistry and molecular biology. Dr. Lau received her bachelor of science with honors from Cornell University and a master of science in biochemistry and molecular biology from New York Medical College. She went on to receive her doctorate of medicine from the University of Rochester. She trained in pediatrics at Montefiore Medical Center and completed her child neurology training as well as additional fellowship training in neurogenetics from New York University.

She is the associate director of the Division of Neurogenetics at NYU School of Medicine and the director of the Lysosomal Storage Disorders Program NYU Langone Health.

She maintains a large and diverse practice of patients with rare, inherited disorders of the nervous system with a special interest in lysosomal storage disorders and leukodystrophies. Dr. Lau is actively engaged in clinical research and has been a principal investigator for over 20 interventional trials and disease registries evaluating enzyme replacement therapies, small molecules, and gene therapy. She has 19 original peer-reviewed publications and over 30 published abstracts in this field of medicine.

Dr Robert Hopkin - Cincinnati, USA

Robert J. Hopkin, MD, is an associate professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center within the University of Cincinnati College of Medicine. Dr. Hopkin graduated from the University of Nevada Medical School. He completed residency and chief residency in pediatrics at the Phoenix Children's Hospital, Maricopa Medical Center Combined Residency Program. His training in medical genetics was completed at Cincinnati Children's Hospital Medical Center.

The majority of Dr. Hopkin's time is spent in caring for patients with genetic disorders. He participates in clinics from Fetal Care to Adult Genetics. He is also actively involved in education of health care providers regarding the application of genetics for patient care. Dr Hopkin has participated in a number of clinical trials and is a member of American College of Medical Genetics Committee on Therapeutics. He has participated in natural history studies on Fabry disease, Pompe disease, velocardiofacial syndrome, Pierre Robin sequence, neurofibromatosis type I, and several other genetic conditions. The unifying principle in his research interests is application of scientific knowledge to improve outcomes for patients afflicted with genetic disorders.