Board of Directors
Sean Ekins, President, Chief Executive Officer, Co-Founder
Sean Ekins graduated from the University of Aberdeen; receiving his M.Sc., Ph.D. and D.Sc in Clinical Pharmacology. Sean was a postdoctoral fellow at Lilly Research Laboratories. He has worked as a senior scientist at Pfizer and Lilly Research Laboratories, respectively and as Associate Director of Computational Drug Discovery at Concurrent Pharmaceuticals, Inc (now Vitae Pharmaceuticals and Vice President of Computational Biology at GeneGo (now Thomson Reuters). He advises several rare disease foundations on their science. In particular he is CSO at the Hereditary Neuropathy Foundation. Sean is also Senior Consultant for Collaborations in Chemistry and CSO, Science at Collaborative Drug Discovery Inc. In addition he is Adjunct faculty positions at the University of Maryland, Rutgers and UNC Chapel Hill. Sean has authored or co-authored ~250 peer reviewed scientific papers and book chapters as well as edited/ co-edited four books. He has received numerous SBIR or STTR grants as PI and consults widely with academia and industry.
Jill Wood, Chief Financial Officer, Co-Founder
Jill Wood graduated from Oregon State University with a BS in retail management and apparel design. Jill is a rare disease patient advocate as her son Jonah was diagnosed with Sanfilippo syndrome. She co-founded Jonah’s Just Begun (JJB) with her husband in 2010, a non-profit to raise awareness and support those with Sanfilippo. She built a scientific advisory board, created a comprehensive social media strategy and raised funds to support the research into Sanfilippo syndrome. In 2012 she co-founded Phoenix Nest with the aim to develop treatments for Sanfilippo Syndrome. Jill frequently lobbies on Capitol Hill with the RDLA in support of rare disease initiatives. Jill is also a speaker at major conferences where she tells her story from mom to CEO of a rare disease organization.
Elsa Shapiro, PhD
For many years, Dr. Elsa Shapiro specialized in research at the University of Minnesota into numerous neurodegenerative diseases, including metabolic diseases. Over the years she has concentrated her research on the brain outcomes of various neurodegenerative diseases in children. She is particularly interested in the relationship of neuroimaging to cognitive outcomes in the developing child. Currently, she is a semi-retired research consultant to the NIH-supported Lysosomal Disease Network (headquartered at the University of Minnesota), which funds and oversees more than 20 research studies of various lysosomal diseases. She was the original Principal Investigator of the ground-breaking multicenter study “Longitudinal Studies of Brain Structure and Function in MPS Disorders,” examining longitudinal changes in quantitative neuroimaging, neuropsychological markers, quality of life, and biomarkers in more than 100 children around the country with MPS I, II, and VI. The current Principal Investigator of this ongoing study is Chester B. Whitley, Ph.D., M.D., who is also the Principal Investigator of the Lysosomal Disease Network. “Longitudinal Studies of Brain Structure and Function in MPS Disorders” is funded by the NIH, Genzyme Corporation and ShireHGT, as well as the National MPS Society and The Ryan Foundation. In addition, Dr. Shapiro has been co-investigator on ShireHGT studies of the natural history of MPS IIIA and MPS IIIB, studying the cognitive and MRI changes over time to identify sensitive outcome measures that might be needed for treatment trials. In summary, her interests lie in exploring the areas of childhood dementia and cognitive impairment using a variety of tools such as quantitative neuroimaging and neuropsychology to study diseases and conditions that affect the central nervous system. In this era of development of new treatments, identifying assessment methods that are sensitive to treatment outcomes is crucial to the identification of effective new treatments.
Graciana Diez-Roux, PhD
Graciana Diez-Roux, Ph.D., is Chief Scientific Officer at the Telethon Institute of Genetics and Medicine. She oversees and directs TIGEM’s Scientific Office. Dr Diez-Roux graduated from Universidad de Buenos Aires, Argentina with a degree in Biology, she then moved to USA and obtained her Ph.D. from New York University in 1998. There she worked with Professor Richard Lang, in the Skirball Insitute of Bimolecular Medicine, on the role of macrophages in vascular remodeling. After receiving her Ph.D., she was awarded an EMBO long-term post-doctoral fellowship and joined the laboratory of Prof Enrico Avvedimento in the Universita’ degli Studi di Napoli to work on the Ras signaling pathway in thyroid cells. Since 2001, Dr. Diez Roux joined TIGEM, first as a group leader, and since 2003 as Chief Scientific Officer. Among her duties she scientifically manages a large portfolio of research grants, analyzes the funding landscape to strategically identify grant opportunities, actively participates in grant proposal writing and acts as TIGEM liaison for science funding agencies. In addition, Dr. Diez-Roux is involved in numerous aspects of TIGEM’s scientific management and is Dean of TIGEM’s graduate program.
Scientific Advisory Board
Robert Steiner, MD
Dr. Robert Steiner is Chief Medical Officer at Acer Therapeutics Inc. He was formerly Marshfield Clinic Research Foundation Chief Science Officer, Marshfield Clinic. He earned his MD from the University of Wisconsin in Madison, and completed a residency in pediatrics at Cincinnati Children’s Hospital Medical Center in Ohio and a fellowship in medical genetics at the University of Washington and Seattle Children’s Hospital. Dr. Steiner is board certified in pediatrics, clinical genetics, and clinical biochemical genetics. Dr. Steiner is the Principal Investigator or Co-Investigator of more than a dozen ongoing clinical trials and clinical research studies on Smith-Lemli-Opitz Syndrome (SLOS), Osteogenesis Imperfecta, Autism, and lysosomal storage diseases including Mucopolysaccharidoses, Fabry and Gaucher diseases, and Neuronal Ceroid Lipofuscinosis. Dr. Steiner has authored over 100 peer-reviewed original research articles, and more than 50 reviews, book chapters, and letters on rare diseases and related topics. He is also a member of numerous committees and advisory boards, including the Lysosomal Storage Disease Network Steering Committee, Newborn Screening Subcommittee of the Society of Inherited Metabolic Disease, SLOS Foundation Medical Advisory Board, and Batten Disease Support and Research Association Medical/Scientific Advisory Board.
Alexey Pshezhetsky, PhD
Dr. Alexey Pshezhetsky graduated from the Department of Chemistry, Moscow State University in 1985. In 1989 he obtained Ph.D. degree in chemical kinetics and catalysis from the same university. In 1989-1992 he was a researcher in Moscow State University and Moscow Institute of Medical and Biological Chemistry studying genetic diseases of children caused by the inherited deficiencies of lysosomal enzymes. In 1993 Dr. Pshezhetsky joined Departments of Pediatrics and Biochemistry, University of Montreal where he was subsequently promoted to professor. He is also affiliated with the Department of Anatomy and Cell Biology at McGill University. Since 1998 he is a scientific director of Medical genetics diagnostic laboratory and a director of a Laboratory of lysosomal biology at Ste-Justine Hospital Research Center. The research of Dr. Pshezhetsky has been acknowledged by multiple national and international agencies including the Canadian Institutes of Health Research, Canadian Foundation for Innovation, Genome Canada, Genome Quebec, March of Dimes Foundation, Vaincre les Maladies Lysosomales and others. Dr. Pshezhetsky received many career awards and fellowships including a National Investigator Award from FRSQ and an Award of Excellence in Pediatric Research from the Foundation for the Research in Children’s Disorders. The current research interests of Dr. Pshezhetsky include molecular basis of lysosomal and other inherited metabolic disorders, glycobiology, proteomics and functional genomics of the cell.
Brian Bigger, PhD
Dr. Brian Bigger was awarded a Bachelors degree from the University of Bath in Applied Biology. His PhD was conducted in the Gene Therapy Research Group, Imperial College, London, where he worked with Professor Charles Coutelle on developing a gene delivery vehicle for mitochondrial gene therapy. On completion of his PhD in 2000, Dr Bigger joined Dr Mike Themis, Imperial College, London to work on a Wellcome Trust collaborative project with Cancer Research UK, investigating gene delivery to stem cells for liver diseases. In 2004 he joined Dr Suzanne Watt’s group in Oxford University and the National Blood Service as a Senior Research Scientist to work on mechanisms of stem cell homing. In 2006 Dr Bigger set up the MPS Stem Cell Research laboratory at the University of Manchester and the Royal Manchester Children’s hospital. He is currently Senior Research Fellow, University of Manchester. Recently, the lab has been renamed the Stem Cell & neurotherapies laboratory to reflect its wider remit in developing stem cell gene therapy and other treatments for neudegenerative lysosomal diseases and also for primary brain tumours.
Steve Walkley DVM, PhD
Dr. Steve Walkley is a Professor at Albert Einstein College of Medicine. His research interests are concerned with analysis of pathogenic cascades and development of therapeutic strategies for genetic disorders of the endosomal-lysosomal system known as neuronal storage diseases. Disorders include Tay-Sachs, Hurler, Sanfillippo, Niemann-Pick, Batten, and other related conditions. Primary proteins implicated in storage diseases include not only lysosomal hydrolases but also soluble and membrane associated proteins often of unknown function. His studies are focused on the link between the primary protein defect and the abnormal accumulation of substrate (gangliosides, glycosaminoglycans, cholesterol, and so forth) and with subsequent induced changes in trafficking and signaling events within affected neurons.
Patricia Dickson, MD
Patricia Dickson received her medical degree from Columbia University and an A.B. in Classics from the University of Chicago. . She is Associate. Professor. UCLA Medical School. Since 2003, she has researched brain-directed enzyme replacement therapy for the mucopolysaccharidoses (MPS), a group of lysosomal storage disorders. She holds two sponsor-investigator investigational new drug applications (INDs) for clinical trials of intrathecal enzyme replacement therapy for MPS type I, and her research has been supported by the National Institutes of Health, Food and Drug Administration (through the Orphan Products Development program), and by private foundations and industry. She has co-organized national workshops on the challenges in developing therapies for the brain in inborn errors of metabolism and on CNS drug delivery. Dr. Dickson has served on several advisory boards and data and safety monitoring boards for pharmaceutical companies who are designing and conducting clinical trials of CNS-directed therapy for rare diseases. She is currently vice-chair of the scientific advisory board for the National MPS Society and is a member of the Therapeutics Committee of the American College of Medical Genetics.
Joel Freundlich, PhD
Dr. Freundlich is an associate professor of Pharmacology & Physiology and Medicine at Rutgers University–New Jersey Medical School. He is a faculty member of the Center for Emerging and Reemerging Pathogens. Prior to his return to academic research in 2006, he spent eight years in the pharmaceutical industry as a medicinal chemist. His undergraduate and master’s degree training were in chemical engineering at Cornell University as a McMullen Dean’s Scholar. He received his doctorate in organic chemistry from the Massachusetts Institute of Technology under the tutelage of 2005 Nobel Prize in Chemistry awardee Richard Schrock. An overarching goal of his current research is the discovery of small molecules that modulate novel biological targets in Mycobacterium tuberculosis – the causative agent of tuberculosis. To accomplish their aims, his lab typically employs computational, chemical, and biological techniques. His laboratory is funded by the National Institutes of Health.
Robert Boyd, PhD
Robert E. Boyd received his Ph.D. in 1996 from Drexel University, PA, under the supervision of Prof. Franklin A. Davis where he studied the synthetic utility of chiral sulfonamides. Dr. Boyd spent several years in the Department of Drug Discovery at the R. W. Johnson Pharmaceutical Research Institute where he focused mainly on CNS- related targets, in particular neurodegeneration. He joined Amicus Therapeutics in 2005, where he currently leads the medicinal chemistry effort aimed at identifying novel chemical structures that function as pharmacological chaperones useful in the treatment of rare lysosomal diseases.
Sean Ekins, President, Chief Executive Officer, Co-Founder
Jill Wood, Chief Financial Officer, Co-Founder
Belen Zafra Garcia
Founded Sanfilippo Barcelona. She has two children, her eldest has MPSIIIC. Belen is a retired professional dancer, she resides in Barcelona, Spain.
Nancy and Paul Burke
Paul and Nancy have three daughters all affected with MPSIIIC, they established the JLKSanfilippo Research Foundation in 2006. Their eldest was diagnosed in 1997 at the age of 10. Paul is a retired school teacher and Nancy is a preschool teacher. They reside in Belmont MA.
Jeremy and Jill were married in 2006 and have one child. Jonah was diagnosed in 2010 at 22 months of age with MPSIIIC. Jill is the CFO of Phoenix Nest and Co-Founded Jonah’s Just Begun. Jeremy works as a cameraman for film and television. They reside in Brooklyn NY.
Raquel Marques & Antonio Vicente
Raquel and Antonio were married in 2001 and have two daughters. Their oldest Joana was born 29/02/2004 and diagnosed with MPSIIIC in August 2010. (rare baby born on a rare day) Raquel and Antonio are both civil engineers. They reside in Lisbon, Portugal.
Francine Vallino & Guilhain Higonnet
Have two children both of whom suffer from MPSIIIC. Guilhain and Francine both work as accountants they co-founded Sanfilippo Sud. The family resides in the South of France.
Jason and Christi Ormeroid
Jason and Christi Ormeroid were married in 1996 and have two children. Their daughter Logan is not affected with MPS. She is an amazing big sister to Levi who has MPS IIIC. He was diagnosed at age 10 in 2009. Jason is a Program Manager at Yaskawa Electric and Christi is a cook at Eisenhower High School. Their family resides in New Berlin, WI.