The ultimate research goal at Families of Spinal Muscular Atrophy is to develop safe and effective treatments and a cure for SMA.  In the drug discovery  area, our strategy has been to provide incentives for industry to invest in SMA drug discovery to build a robust and diverse  therapeutic pipeline. Families of SMA has been funding drug discovery translational research since 2000 and will now increase our efforts in the coming years.

Traditionally, it has been difficult to attract major pharmaceutical companies to conduct research for orphan diseases like SMA, which have small patient populations with small potential for profit. FSMA has taken the strategy of providing seed funding to encourage biotech and pharmaceutical partners to engage in SMA drug research.  Our objective is to reduce the risk for industrial partners by simultaneously providing funding, research tools, scientific expertise, and established clinical networks.

In order to build on recent successes and rapidly create a robust SMA therapeutic pipeline, Families of SMA plans to start and fund several new translational research projects.   To achieve this goal effectively, Families of SMA is now launching a formal translational research program that will provide funding and direction to new and diverse SMA drug discovery projects. 

To govern this new translational research program at FSMA, we are now launching a new Translational Advisory Council (TAC).  Our immediate goals for the TAC will be to:

1) Assess feasible strategies for SMA drug discovery and  development,

2) Release a request for proposals focusing on those strategies,

3) Evaluate the submitted proposals, and then

4) Fund  and then manage several of the best new translational projects.

Establishing the TAC fits very well into the general FSMA research funding model, which is based on the need for expert and independent prioritization and oversight of research projects. 

This approach ensures that FSMA funds only the most promising research, and that the funded projects are run in a professional and efficient manner under the guidance of world-class experts. 

Members of the TAC are experts in a wide range of drug discovery areas, including in assay development, high throughput screening, neurobiology, medicinal chemistry, and toxicology, and will be from diverse backgrounds in academia, industry and government.

This new advisory group and funding program will fill a critical position in the step between early academic research that creates seed ideas for new therapies and later clinical and medical research.  Translational research is the critical step that takes research ideas and makes them into practical solutions for patients.

The new members of the TAC are:


Brian Pollok, Ph.D., Chief Scientific Officer, LIFE Technologies, Assay Development.  Dr. Pollok serves as Chief Scientific Officer and Head of Global R&D for  LIfe Technologies (formerly Invitrogen Corporation).  Dr. Pollok has been with Invitrogen since November 2003, previously serving as Vice President of R&D for the company’s Drug Discovery Sciences unit.  He also served as Vice President of Discovery Biology at Aurora Biosciences, as a Sr. Research Investigator at Pfizer Central Research in Groton, CT, and as an Assistant Professor of Microbiology and Immunology at Wake Forest University

Lee Rubin, Ph.D., Director of Translational Medicine, Harvard Stem Cell Institute, Neuronal Assay Development and High-Throughput Screening.  Dr. Rubin received his Ph.D. in Neuroscience from The Rockefeller University and completed postdoctoral fellowships in Pharmacology from Harvard Medical School and in Neurobiology from Stanford University School of Medicine. He was then an Assistant and Associate Professor at Rockefeller University. Subsequently, he joined Athena Neurosciences (now Elan Pharmaceuticals) as head of their blood-brain barrier (BBB) and multiple sclerosis groups.  This work successfully identified an anti-integrin antibody, now known as Tysabri, which has been approved for treatment of multiple sclerosis and for Crohn’s disease.  After leaving Athena, he became Professor of Anatomy and Developmental Biology at University College London and Director of the Eisai London Laboratory of Neurodegenerative Disease. In 1998, he returned to Boston as Chief Scientific Officer of Ontogeny, Inc (now Curis, Inc) a biotechnology company in Cambridge, MA, founded by Dr. Douglas Melton. Potent small molecule Hh antagonists were identified and partnered with Genentech for clinical development. Several phase II solid tumor studies are currently underway with one of the antagonists.  In July 2006, Dr. Rubin moved to the Harvard University Stem Cell Institute as Director of Translational Medicine and is a member of the new Department of Stem Cell and Regenerative Biology.  Much of his effort there is devoted to identifying therapeutics for orphan neural disorders such as Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis, Huntington’s Disease and multiple sclerosis using new kinds of stem cell-based screens. He also directs a group that carries out a broad set of stem cell reprogramming and differentiation assays with numerous other members of the Harvard Stem Cell Institute.

Christine Brideau Ph.D., Executive Director, In Vitro Pharmacology, Merck & Co ., Preclinical Drug Development.  Christine Brideau is responsible for in vitro assay development, screening and the characterization of small molecules in support of Hit to Lead Identification and Lead Optimization drug discovery programs. She leads a team of biochemists, cell biologists, automation specialists and engineers.  Christine has over 20 years of drug discovery experience.  Her experience spans from in vivo pharmacology to high throughput screening (HTS) in various disease areas such as inflammation, asthma, metabolic disorders and hypertension.  She has co-authored over 40 peer-reviewed publications in areas of pharmacology, assay development, data analysis of screening data, automation and compound management. As a recognized expert in the area of High Throughput Screening, she serves as an ad hoc reviewer for the Journal of Biomolecular Sciences, the NIH Molecular Libraries Program study sections and the Translational Panel of the Ontario Institute for Cancer Research.

Jim Inglese, Ph.D., Deputy Director, NIH Chemical Genomics Center, Assay Development and High-Throughput Screening. 
Dr. Inglese is co-founder and Deputy Director of the NIH Chemical Genomics Center (NCGC) and Associate Investigator of the National Human Genome Research Institute (NHGRI). Dr. Inglese received his Ph.D. in Organic Chemistry from the Pennsylvania State University and completed post-doctoral training in the laboratory of Prof. Robert J. Lefkowitz at Duke University Medical Center. Dr. Inglese has led research teams at the Princeton-based biotech Pharmacopeia and Merck Research Laboratories before coming to the NIH. Over the past two decades Dr. Inglese has contributed to over 150 publications and patents and has made major contributions to the early drug discovery process through the development of novel assay formats and high throughput screening paradigms. Dr. Inglese is the Founding Editor (2002) and Editor-in-Chief of the journal, ASSAY and Drug Development Technologies

Peter Hodder, Ph.D., Senior Director, Lead Identification, The Scripps Research Institute, Scripps Florida, Assay Development and High-Throughput Screening.  With over a decade of drug-discovery research experience in the pharmaceutical industry and academia, Prof. Hodder currently directs Scripps Florida’s high-throughput screening (HTS) and compound management operations. His 20 member group employs sophisticated technologies to implement and screen novel assays against both Scripps’ proprietary >600,000 member library as well as the NIH’s >300,000 member MLPCN collection. To date, his group has successfully completed more than 70 industrial and academic HTS-related collaborations. Most important, these collaborations have identified and characterized several "lead" compounds with drug-like properties. Prof. Hodder is also an adjunct professor at the Florida Atlantic University, Boca Raton, and is engaged in the discovery of novel antibacterials.

Michael Vellard, Ph.D., Principal Scientist, BioMarin, Preclinical Drug Development.  Dr. Michael Vellard is working since 1999 at BioMarin Pharmaceutical in the Research department. Starting as a scientist he is now directing research focused on finding treatments for rare genetic diseases as, for example, MPS1, MPS6, MPS4A, Phenylketonuria (PKU) and Duchenne Muscular Dystrophy (DMD).  Before this, Dr. Vellard did a post-doc training at UCLA where he worked on a rare lysosomal genetic disease, Cystinosis.  In 1992 Dr. Vellard got his Ph.D. summa cum laude in Microbiology by working at the Pasteur and the Curie Institutes in Paris (France) on the regulation of the transcription of the proto-oncogene c-myb.

Joseph W. Lewcock, Ph.D., Group Leader, Department of Neurobiology, Genentech, Inc., Preclinical Drug Development.  My group at Genentech researches the molecular mechanisms underlying neurodegenerative disease, with a particular focus on disorders that involve degeneration of motor neurons, such as Amyotrophic Lateral Sclerosis (ALS). We are currently taking various approaches to identify central pathways that govern the neuronal cell death and axonal degeneration that occur during the course of disease with the hopes of identifying novel disease modifying approaches to combat these disorders.  Before joining Genentech, I received my Ph.D. from Johns Hopkins University and did a postdoctoral fellowship with Sam Pfaff at the Salk Institute studying the genes that govern proper motor innervation during development. 

Arthur Burghes, Ph.D., Professor, The Ohio State University, SMA Biology.  Dr. Burghes is a Professor of Molecular and Cellular Biochemistry at the Ohio State University and an expert in the field of SMA biology.  His laboratory focuses on the molecular understanding of genetic neuromuscular disorders, in particular SMA. Dr. Burghes developed the first animal model of SMA and demonstrated that high copy numbers of the SMN2 gene can rescue the SMA mouse.  Dr. Burghes joined the SAB in 2002.

Charlotte Sumner, M.D., Assistant Professor, Johns Hopkins University, SMA Biology/ Neurology.  Dr. Sumner is an assistant professor of neurology at Johns Hopkins University.  She received her B.A. from Princeton University and her M.D. from the University of Pennsylvania School of Medicine.  She completed internal medicine internship and neurology residency at the University of California San Francisco and neuromuscular fellowship at Johns Hopkins University.  Her scientific training included a neurogenetics fellowship at the National Institute of Neurological Disorders and Stroke.  Dr. Sumner cares for patients with inherited diseases of motor neurons and peripheral nerves such as spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease.   Dr. Sumner’s research focuses on the molecular pathogenesis of SMA with particular attention to therapeutics development for this disorder.  Recent work has explored the efficacy of histone deacetylase inhibitors in SMA.   Dr. Sumner’s laboratory research is funded by the National Institute of Neurological Disorders and Stroke, Families of Spinal Muscular Atrophy, the Spinal Muscular Atrophy Foundation, and the Howard Hughes Medical Institute. 

Peter Grootenhuis, Ph.D., Senior Director, Vertex Pharmaceuticals, Medicinal Chemistry.  Dr. Grootenhuis is Senior Director Drug Innovation at Vertex in San Diego. He supervises two chemistry teams and a computational group. In addition, he is project-leader of the sodium channel program. Prior to joining Vertex in 2002, Grootenhuis worked at CombiChem-DuPont in San Diego (1998-2002), and at Organon in the Netherlands (1989-1998). Before heading up the sodium channel program, Grootenhuis was project-leader of the cystic fibrosis project, which led to the discovery and IND filing of two drug candidates (VX-770, VX-809) that are currently in clinical trials.  Grootenhuis performed post-doctoral studies at the UC San Francisco (1987-1989). He received a PhD and MSc in chemistry at the Universities of Twente and Utrecht, respectively. Currently he holds a part-time professorship chair in Virtual Screening and Design at the Free University at Amsterdam. He published over 100 peer reviewed papers and is co-inventor of 45 patents. He received several scientific awards, including the Gold Medal of the Royal Dutch Chemical Society in 1995 for the best chemist under 40 years of age. Grootenhuis served as Chairman of the ACS Computers in Chemistry Division. He is consultant for the NIH Therapeutics for Rare and Neglected Diseases Program.

Timothy Reilly, Ph.D., DABT, Director, Bristol Myers Squibb, Toxicology.  Dr. Timothy P. Reilly is a Director within Drug Safety Evaluation at Bristol-Myers Squibb Company (BMS), where he oversees a department responsible for designing, executing and defending safety assessment packages and developing and implementing risk assessment strategies for small molecule and peptide/protein/antibody therapeutics. He has extensive mechanistic toxicology experience within and external to BMS, having authored numerous peer-reviewed publications in mechanistic toxicology, served as a peer reviewer for a variety of journals in this area, and consulted on several NIH grants.  Most importantly, he and his wife are the proud parents of 3 wonderful children, the oldest of whom is thriving despite his diagnosis with SMA, type 2.

Ex-officio member: John Porter, Ph.D., Program Director, NINDS, NIH, Neuromuscular Disease. Dr. John Porter is Program Director at the National Institute for Neurological Disorders and Stroke (NINDS). He manages a portfolio of research grants that focuses on diseases affecting the motoneuron (spinal muscular atrophy and spinal bulbar muscular atrophy), axon (inherited and acquired peripheral neuropathies), neuromuscular junction (inherited and acquired myasthenia gravis and slow channel syndrome), and skeletal muscle, (myotonic dystrophy and congenital, Duchenne/Becker, Emery-Dreifuss, facioscapulohumeral, limb girdle, and oculopharyngeal muscular dystrophies). He currently serves as Executive Secretary for the interagency Muscular Dystrophy Coordinating Committee and is on advisory boards for Translational Research in Europe-Assessment and Treatment of Neuromuscular Diseases (TREAT-NMD), the MRC Centre for Neuromuscular Diseases, the Muscular Dystrophy Association (MDA) Translational Research Advisory Committee, the Fields Center for FSHD and Neuromuscular Research, and the Jain Foundation. Dr. Porter received his undergraduate degree in Biology from the College of William and Mary and his Ph.D. in Anatomy from Medical College of Virginia and completed postdoctoral training in systems neurophysiology at the University of Alabama at Birmingham. Prior to joining the NIH, Dr. Porter was Professor of Neurology at Case Western Reserve University. His 20+ year academic research career focused upon extraocular muscle biology in health and disease, including the mechanisms responsible for its novel responses to a variety of neuromuscular disorders.

Jasbir Singh, Ph.D., President, Jasin Discovery Solutions, Medicinal Chemist.Dr. Jasbir Singh received his Ph.D. in medicinal chemistry from the University of Wisconsin under the direction of Prof. Daniel Rich. He started his career as a senior research scientist at Sterling Winthrop Research Institute. As a project leader for Combinatorial Chemistry Based Technologies in the early 90s, a novel computational approach, utilizing Genetic Algorithms, to explore diversity space and accelerate lead identification & lead optimization was developed and implemented, in collaboration with the head of the computational chemistry group. Subsequently, Jasbir moved to Cephalon where, in addition to being Director of medicinal chemistry, he served as the co-project leader for the angiogenesis project. The work at Cephalon resulted in identification of the clinical candidate, CEP-7055. From 2001-2009, Jasbir worked as Vice-president of medicinal chemistry at deCODE Chemistry, Woodridge, IL, and was responsible for medicinal chemistry, computational chemistry, and ADME departments; overseeing and managing internal and collaborative programs from early discovery to clinical candidate selection. Through innovative chemistry and multidisciplinary teamwork, from 2002-2009, deCODE’s team had advanced three compounds to clinical evaluation.  These include an EP3 receptor antagonist DG-041, a novel anti-platelet agent; a highly potent and orally active small molecule inhibitor of hLTA4 hydrolase, DG-051; and a small-molecule allosteric modulator of PDE4D as CNS therapeutics, DG-071.  These compounds are currently in clinical trials. In addition, Jasbir led the medicinal chemistry effort for the development of small molecule therapeutics for spinal muscular atrophy (SMA) for FSMA (Families of Spinal Muscular Atrophy), a collaborative program.  This work has culminated in the identification of a clinical candidate, D157495. In August of 2009, D157495 was designated an orphan drug. D157495 has been licensed for further development by Repligen, which plans to pursue its clinical development.  Jasbir has co-authored over 100 scientific publications and posters, and is a co-inventor of 45 patents and patent applications.  Presently, Jasbir is the President of Jasin Discovery Solutions, Inc, a consulting company to coordinate and provide services in the area of drug discovery and pre-clinical development to biotech, academia, and disease foundations.