Fight SMA Spinal Muscular Atrophy Conference 2009
The video to the right was recorded from this year’s first-ever webcast. It features Fight SMA Scientific Director Dr. Chris Lorson giving the “Basic Science Update” during the Families and Friends Conference. View it by clicking on the right-facing triangle, or download the entire video file here (101 megabytes).
The 2009 FightSMA Annual Conference in Review, Exceptional Parent Magazine, 09/24/09.
Dates: April 26-27, 2009
Location: L’Enfant Plaza Hotel, Washington, D.C.
Schedule of Events
Sunday, April 26, 2009
|5:00 PM||Welcome and Introduction by Dr. Chris Lorson||Quorum Room|
|SMA; pathophysiology, mild SMN missense mutations mode of action and inducible SMN in mice models of SMA||Arthur Burghes|
|SMN control of splicing regulation in health and disease||Livio Pellizzoni|
|SMN function: a role for ROCK/Rho||Rashmi Kothary|
|7:00 PM||Dinner||Quorum Room|
|7:45 PM||Biology and clinical application of stem cells to Motor Neuron Disease||Clive Svendsen|
|8:15 PM||Open Discussion|
Monday, April 27, 2009
|8:00 AM||Breakfast||Quorum Room|
|8:30 AM||SMN2 as a target for RNA therapeutics||Chris Lorson|
|Splicing Correction as a Therapeutic Strategy for SMA||Adrian Krainer|
|Development and implementation of a novel SMN2 HTS platform||Elliot Androphy|
|P38 induction of hSMN||Alex MacKenzie|
|11:00 AM||Pharmacologic and Gene SMA therapeutics in mice and human||Kurt Fischbeck and
|Neuromuscular junctions in spinal muscular atrophy mice||Charlotte Sumner|
|Moving AAV from the bench to bedside for neuromuscular disorders||Brian Kaspar|
|12:30 PM||Lunch||Quorum Room|
|1:30 PM||Viral vectors and realities for surgical delivery||Nick Boulis|
|Clinical Trial Update||Kathy Swoboda|
|Developing Novel Therapeutics for Spinal Muscular Atrophy: NIH Perspectives and Support||Amelie Gubitz|
|3:30 PM||Final Discussion and Closing Remarks by Dr. Chris Lorson|
Researchers in Attendance
|Elliot Androphy, M.D.||University of Massachusetts Medical School|
|Nicholas Boulis, M.D.||Emory School of Medicine|
|Katherine Bricceno||Graduate Student, NINDS|
|Arthur Burghes, Ph.D.||Ohio State University|
|Barrington Burnett, Ph.D.||National Institute of Neurological Disorders and Stroke|
|Thomas Crawford, M.D.||Johns Hopkins University|
|Kenneth Fischbeck, M.D.||National Institute of Neurological Disorders and Stroke|
|Amelie Gubitz, Ph.D.||National Institute of Neurological Disorders and Stroke|
|Brian Kaspar, Ph.D.||The Research Institute at Nationwide Children’s Hospital|
|Rashmi Kothary, Ph.D.||Ottawa Health Research Institute|
|Adrian Krainer, Ph.D.||Cold Spring Harbor Laboratory|
|Deborah Kwon||Graduate Student, NINDS|
|Christian Lorson, Ph.D.||University of Missouri-Columbia|
|Alex MacKenzie, M.D., Ph.D.||Children’s Hospital of Eastern Ontario Research Institute|
|D. Elizabeth McNeil, M.D.||FDA, Office of Orphan Products Development|
|Nikolai Naryshkin, Ph.D.||PTC Therapeutics|
|Sergey Paushkin, M.D., Ph.D.||SMA Foundation|
|Livio Pellizzoni, Ph.D.||Columbia University Center for Motor Neuron Biology and Disease|
|John Porter, Ph.D.||National Institute of Neurological Disorders and Stroke|
|Charlotte Sumner, M.D.||Johns Hopkins University School of Medicine|
|Clive Svendsen, Ph.D.||University of Wisconsin-Madison|
|Kathy Swoboda, M.D.||University of Utah|
Families and Friends’ Conference
Dates: April 27-28, 2009
Location: L’Enfant Plaza Hotel, Washington, D.C.
Schedule of Events
Monday, April 27, 2009
|5:00PM||Basic Science Update|
|5:30PM||Basic Science Q&A|
|6:30PM||Thriving with SMA Panel Presentation|
|8:30PM||One-on-One Meetings with Panelists|
Tuesday, April 28, 2009
|8:00AM||Capitol Hill Briefing|
|9:00AM||Meetings on Capitol Hill|
Capitol Hill Visits
The 2009 FightSMA Annual Conference closed after another successful day on Capitol Hill. On April 28th, families, friends, and researchers all marched upon the Hill to advocate for increased support of Spinal Muscular Atrophy reearch and the SMA Treatment Acceleration Act, visiting over 65 Members’ offices. After a productive day, the SMA community was thrilled to learn that HR 2149, the SMA Treatment Acceleration Act, had been re-introduced in the 111th Congress in the House of Representatives. FightSMA thanks all of our families, friends, and researchers for kicking off the 2009 advocacy efforts in a big way for the SMA Treatment Acceleration Act.
Individuals who could not attend the visits in person are encouraged to contact FightSMA’s Public Affairs Coordinator Caroline Gibson to find out how to participate in the Congressional efforts from home.
Thriving with SMA Panel
Thomas Crawford, M.D. – Pediatric Neurologist, Johns Hopkins University
Dr. Crawford is an Associate Professor of Neurology and Pediatrics at Johns Hopkins in Baltimore, Maryland. He is co-director of the MDA clinic for Neuromuscular Disorders and Neurologist for the Ataxia Telangiectasia Clinical Center at Johns Hopkins. His practice involves general child neurology with a principal interest in caring for children with neuromuscular, neuromotor, and ataxic disorders. Parents if SMA patients have said that Dr. Crawford’s “knowledge and dedication to trying to heal these children is quite evident.”
Tina Duong, MPT – Physical Therapist, Cooperative International Neuromuscular Research Group
Ms. Duong is a research physical therapist who manages and coordinates the standardization and training for clinical evaluations of the network. She is a Clinical Evaluator Coordinator for the Cooperative International Neuromuscular Research Group, the clinical research arm of the Duchenne Muscular Dystrophy Research Center (DMDRC) and the Research Center for Genetic Medicine at the Children’s National Medical Center (CNMC). Her research interests lie in the area of strength and outcome measures, with expertise in the areas of pediatrics and neuro-rehabilitation. In addition, she is a co-investigator in a preclinical study focusing on exercise and strength in different mouse strains with muscular dystrophy, as well as a clinical trial assessing strength measures in children with DMD. She is also the physical therapist liaison for the MDA clinics in Washington DC and Virginia.
Craig P. Eberson, M.D. – Pediatric Orthopedist, Hasbro Children’s Hospital
Dr. Eberson is the Chief of Pediatric Orthopaedics at Hasbro Children’s Hospital/Warren Alpert Medical School of Brown University in Providence, Rhode Island. His clinical responsibilities include directing the Pediatric Spine Service at Hasbro Children’s Hospital, as well as serving as the Orthopedic Director of the Muscle Disorder Clinic, which cares for children from throughout Southern New England with neuromuscular disorders. Dr. Eberson is the author of numerous book chapters, scientific articles, and national presentations related to the orthopedic care of children and in 2000, he was the recipient of the Haffenreffer Award for Excellence in Orthopaedic Research. His clinical interests include the treatment of scoliosis and the treatment of spinal disorders via a minimally invasive approach.
Sally Evans, M.D. – Physiatrist, Children’s National Medical Center
Dr. Evans is the Children’s Division Chief of Physical Medicine and Rehabilitation at Children’s National Medical Center, the largest pediatric physical medicine and rehabilitation provider in the Mid-Atlantic region, providing both inpatient and outpatient care.
Sarah Feasel, MEd, RD, LD, CNSC – Clinical Nutrition Manager, National Rehabilitation Hospital
Ms. Feasel is a clinical nutrition manager and patient services manager at National Rehabilitation Hospital in Washington, D.C. She completed her undergraduate education at The Ohio State University with a B.S. in dietetics and completed her dietetic internship and Masters of Education at Teachers College, Columbia University. She is currently working toward a PhD. in nutrition at the University of Maryland. Sarah is certified by the Commission on Dietetic Registration as a Registered Dietitian and a weight management specialist. Sarah is a member of the American Dietetic Association, Dietitians in Physical Medicine and Rehabilitation, American Society for Parenteral and Enteral Nutrition (A.S.P.E.N.), Dietitians in Nutrition Support, and several other dietetics practice groups. She currently serves as a member on the A.S.P.E.N. clinical practice committee.
Alex MacKenzie, M.D., Ph.D. – Pediatrician, Children’s Hospital of Eastern Ontario Research Institute
Dr. MacKenzie is a professor in the Department of Pediatrics and Biochemistry at the University of Ottawa, in addition to being the Director of the Children’s Hospital of Eastern Ontario Research Institute and the Vice President of Research at the Children’s Hospital of Eastern Ontario. However with all these titles, Dr. MacKenzie describes himself simply as “a pediatrician with a problem.” He studies inherited pediatric illnesses with a particular focus spinal muscular atrophy. Serving as
co-chair of FightSMA’s Scientific Advisory Committee, Dr. MacKenzie recently recorded the “State of the Disease Podcast for SMA” (part 1 and part 2). Dr. MacKenzie will serve as the moderator for the panel.
Mary Schroth, M.D. – Pediatric Pulmonologist, University of Wisconsin
Dr. Schroth is a Pediatric Pulmonologist at the University of Wisconsin Children’s Hospital and Clinics and is the Director of the Pediatric Pulmonary Center Training Grant. Building strong bonds with families around the country, she has been instrumental in the development and advancement of respiratory care for children with spinal muscular atrophy. According to Dr. Schroth, “the experience with kids with SMA Type II is that if they get good respiratory care early on, they will live a long life.” In addition to treating SMA patients, Dr. Schroth has managed clinical trials and participated in the development of the Consensus Statement for Standard of Care in Spinal Muscular Atrophy. She also developed a pediatric multidisciplinary clinic for patients with neuromuscular disease, incorporating pediatric rehabilitation medicine and pediatric orthopedic surgery.
Kathy Swoboda, M.D. – Pediatric Neurologist, University of Utah
Dr. Swoboda is an associate professor of Neurology and Pediatrics at the University of Utah. She directs the Pediatric Motor Disorders Research Program at the University of Utah School of Medicine in Salt Lake City, Utah. The primary focus of her research efforts over the past decade have been directed to better understand the pathophysiology and genotype-phenotype correlates underlying motor dysfunction in children with spinal muscular atrophy (SMA) and other motor disorders of childhood onset. Praised by many parents as “awesome!” and complimented on her bedside manner, Dr. Swoboda is a titan in the SMA community. She leads many SMA research studies and clinical trials, including one investigating early intervention in pre-symptomatic children. As Dr. Swoboda sees it, “if you can give them an edge, they can have a very productive life. I’m willing to take baby steps.”
We would like to thank our corporate sponsors for their generous support of The Good Fight.
Hill-Rom Company, Inc.
ISIS Pharmaceuticals, Inc.
The Medi-Kid Co.
Exceptional Parent Magazine
September 24, 2009
If you or your company are interested in sponsorship opportunities during The Good Fight, please contact Heather Lennon.