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Jim Rusche, Ph.D.
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| I am a scientist and administrator at a biopharmaceutical company, Repligen. My job is to help identify new opportunities to develop treatments for CNS diseases especially those with no current treatments. I direct a small but dedicated group of scientists with the task of trying to design and manage all the parts of developing novel drugs. I have spent 25 years trying to advance new therapies for childhood diseases such as autism, Friedreich’s ataxia and spinal muscular atrophy. |
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The Potter Family
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| We are the Potter family of Massachusetts. Mark & Laurie, Murphy (5 years old), Anders (2 years old), and Marshall (forever 4 months & 6 days old). Our purpose in life has been defined by spinal muscular atrophy, and of course by our little boy Marshall. For someone so young who never spoke a word, he has been our greatest teacher. |
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Brunhilde Wirth, Ph.D.
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| Brunhilde Wirth is full professor and chair of the Institute of Human Genetics in Cologne, Germany and group leader of the Neuromuscular Research Group. |
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The Sutker Family
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| We are the Sutker family from Columbia, Maryland: Steve, Julie, Noah (age 9), Quinn (age 7), Dylan (age 2) and Wyatt, our hero who passed away in 1999 from SMA Type I at 5 1/2 months of age. Wyatt’s wisdom and curiosity have been the inspiration and guide for our ongoing involvement with the SMA community. SMA will always be a large part of our family and has instilled in our children a sense of pride, compassion, and understanding as well as the necessity of reaching out and standing up to make a difference in the lives of other people. |
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Louise Simard, Ph.D.
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| I am a research scientist and geneticist who has sought to find ways to translate our basic understanding of SMA to practical outcomes for SMA families. Dr. Simard is Professor and Head of Biochemistry and Medical Genetics at the University of Manitoba, Faculty of Medicine. |
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Shannon O’Brien
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| I am Shannon O’Brien from Chicago, IL. I have SMA Type III and was diagnosed at the age of 2 years old. I am now 22 years old and a full-time student at University of Illinois in Champaign. I will be graduating this December with my bachelors in Speech and Hearing Science and hope to attend graduate school the following fall to get my masters in Speech Language Pathology. |
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Christine DiDonato, Ph.D.
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| I like to think of myself as a gene hunter and animal modeler. My goal as a research scientist is to identify genes that are responsible for human diseases and make animals that mimic that disease. This allows us to understand how the gene works and to devise new ways to make and then test therapies, so we can bring the most effective treatment back to the clinic. |
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The Gaudreau Family
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| We’re the Gaudreau family, Jim - Sue - Michelle & Jennifer, and we live in Dracut, Massachusetts. In June of 2002, at the age of 9 months old, our youngest daughter Jennifer was officially diagnosed with SMA. She was typed at that time as a borderline Type I/II. |
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Mary Schroth, M.D.
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| I am a pediatric pulmonologist who has had the privilege of working with dedicated families to help care for their children with SMA. |
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Audrey Lewis
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| Right from the start, Families of SMA was always about community. It was about families and researchers coming together to help everyone. It was always about each one of us making sacrifices for the greater good of the whole community. Audrey Lewis, the founder of Families of SMA, created that sense of community in our organization 25 years ago. |
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Arthur Burghes, Ph.D.
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| I’m a researcher and mentor who has dedicated my career to SMA. The majority of the professionals who trained in my laboratory are still active in SMA research. I hope that I have inspired their dedication to this worthy cause. |
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The Abraldes Family
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| We’re the Abraldes family, Alex, Donna, our Angel Deirdre and her sisters Maeve (9), Bridget (6) and Shannon (2). We live on Long Island in New York. Deirdre was born on February 5th, 1999 and after a year long mission on this earth she passed away on February 13th, 2000 from SMA Type I with her family holding her gently as she continued on her journey. |
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Brian Pollok, Ph.D.
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| I am a scientist and a businessman (two roles that are not always easy to combine) who takes the tools of modern biology, chemistry and engineering and applies them aggressively to disease research. My goal is to use new technologies to solve the challenges of historically underserved diseases like SMA. |
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The Utzat Family
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| We are Mary Jane and Tim Utzat from New Jersey. Our daughter, Samantha Jane Utzat, passed away from SMA Type 1 on September 14, 2007, two days before her first birthday. We are expecting another daughter, Sydney Ann Utzat, this September. |
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Adrian R. Krainer, Ph.D.
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| As a research scientist, I try to understand the nuts and bolts of how genes are expressed, and to devise effective ways to apply this knowledge towards a cure for SMA. |
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The Lockwood-Merkle Family
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| We’re the Lockwood-Merkle Family from Cincinnati Ohio, including Beth and Kevin Lockwood (parents), Elizabeth & Bob Lockwood (grandparents), and Jan & Ron Merkle (grandparents). We work as a team and are devoted to Emma (8) and Nicholas (6) Lockwood, who have SMA Type I. |
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John Kissel, M.D.
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| I am a neurologist and neuromuscular specialist with a special interest in all things SMA. I started out seeing mainly adults, but now care for patients of all ages with this disease, and enjoy every minute of it! As a “clinical researcher,” I try to bring advances from the research laboratory into clinical practice, and look for the best ways to take care of patients with SMA. This means “leaving no stone unturned.” |
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The Rappoport Family
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| We are the Rappoport Family from Lake Worth, FL: Shaina, Adi, Jordan (9), Max (5), Sam (3) and Jacob, who died with Spinal Muscular Atrophy on October 1st, 2002 at 9 months of age. Jacob has always been our teacher and inspiration. Although we miss him everyday, our experience with SMA has given us gifts and miracles that we would not otherwise have experienced. |
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Hans Keirstead, Ph.D.
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| I like to think of myself as an inventor and explorer—for injuries and diseases of the central nervous system. My goal is to invent treatments and translate them into therapies. |
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The Trainor Family
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| We’re the Trainor family from Baltimore…Gene, Barbara, Caitlin (16), Grace (12), and Erin, who passed away from SMA Type I in 1994 at 5 months.
Each family’s story and the memory of each child sustains us—enabling us to continue giving our energy, our time, and our hearts to SMA. |
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Thomas Crawford, M.D.
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| I’m a doctor who lives and breathes SMA. I love to hang out with the kids, take care of them, talk to the families, and do research. |
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