Check out this news clip of beautiful baby Lucy and the Zahn family. This segment gives a great description of the disease and talks about how close we are to finding a cure. http://www.fox47.com/newsroom/health/videos/vid_61.shtml WE DID IT! 6th Place. $100,000. Incredible. 01/26/2010
January 22, 2010 Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it's the only thing that has. -- Margaret Mead We did it! We really, truly did! Together, we accomplished the monumental. Together, we raised an ENORMOUS amount of awareness for SMA. Together, we are having a material impact on curing it. Together, we are changing this cruel disease -- FOREVER! Out of more than 500,000 charities, the Gwendolyn Strong Foundation, striving to END SMA, received nearly 52,000 votes in 8 days and placed 6th -- sixth place! For that honor, we are in the "Winner's Circle" and will receive a $100,000 grant from Chase to accelerate awareness and research toward a cure. Never before have we been part of something like this -- a true grassroots movement. Something so much bigger than ourselves. Baring witness to a change occurring -- a shift in what has been before. We are humbled, moved, and motivated by the extraordinary that has happened this week. We are so proud of the amazing SMA community. The families who virtually stopped all else in their lives. The parents who ferociously fought and bore their souls to expose the agonizing reality of this disease. And did so with painfully beautiful poignancy. We are humbled by the extraordinary acts of kindness, the grassroots activism, the tireless persevering, the enormous favors called in from those both impacted by SMA and not, but who regardless took it up as their passionate cause -- because it is important to all of us that this horrible, awful disease be cured. The things we witnessed people doing, the energy and creativity behind each effort, the pure passion to prop the Gwendolyn Strong Foundation and SMA on our collective shoulders and compete against these much larger organizations to remain on the leaderboard -- person by person, family by family, company by company, organization by organization, ask by ask, email by email, tweet by tweet, vote by vote. Each of us refused to relent. And we know we are only aware of a fraction of what occurred in this movement. Take a look at this incredible list of celebrities, athletes, musicians, organizations, publications, blogs, etc. that threw their support behind our cause. Humbling. Simply humbling. The Gwendolyn Strong Foundation doesn't have a fancy national headquarters or hundreds of chapters or a big marketing budget or a team of employees. No, we're just two parents in a house in Santa Barbara, California with two MacBook laptops caring for our terminally ill two-year-old daughter and fighting any way we can to save her life. But, in this Chase campaign the Gwendolyn Strong Foundation was much, much more than the three of us. It was also two parents in a house in New York. And three people in a house in Spain. And three people in a house in Ohio. And 25 people at a company in Mississippi. And one family in a house in Australia. And one person in a house in Texas. And five people in a house in Arizona. And two people in a house in the England. The list goes on and on. And together -- collectively -- UNITED -- relentlessly -- all of our amazing individual efforts and our enormous unwavering passion amassed into this wonderful grassroots effort. We should all be so proud of ourselves. We have done something that has never been done before. We always knew this Chase Community Giving campaign was an incredible opportunity for SMA, but it has become so much more than we could have ever imagined. We are so very honored to have fought for this with you. Together, we have helped change the future of this cruel disease. Thank YOU!!! Posted by Victoria Strong House Executive Producer Garrett Lerner Talks About Spinal Muscular Atrophy: What You Can Do to Help 01/21/2010
Author: Barbara Barnett — Published: Jan 21, 2010 at 5:07 pm Some of you may recall a season four episode of House called “97 Seconds.” The patient, Stark, had a genetic condition called spinal muscular atrophy (SMA). The season before, House (Hugh Laurie) had an encounter with a little girl in “Merry Little Christmas” (he stole her French fries and had his patented epiphany moment with her arguing about whether her stuffed animal was a bear or a dog). She too suffered from SMA. Coincidence that two Princeton Plainsboro patients have come to our attention with this rare disease? Nope. House executive producer/writer Garrett Lerner has a son with SMA, and we spoke by phone this morning about SMA, his son Zeke, and what people can do to help find the cure for this terrible (and sometimes fatal) disease. SMA is a neuromuscular disease affecting the voluntary muscles used for crawling, walking, head and neck control, swallowing, and other activities. According to the Families of SMA website, “it is a relatively common ‘rare disorder’: approximately 1 in 6,000 babies born are affected, and about 1 in 40 people are genetic carriers.” Lerner had never heard of the little known disease until Zeke was diagnosed at about one year old. “He never stood. Other kids were walking around and he wasn’t. It took around three to four months to get a diagnosis and the doctors were baffled.” Lerner related that it was years before his work on House and he was going through “a real-life diagnostic conundrum of my own. [Zeke] became weaker and weaker and then he finally stopped crawling. He was unable to crawl anymore and they finally figured out what was going on.” Lerner explained that SMA is broken down into several types. “Type 1 is the most severe and that is characterized by children who are not even able to sit on their own as babies and the prognosis is horrible; they don’t make it out of childhood. Type 2 is what Zeke has. They are able to sit on their own, sometimes crawl on their own at a point, but never gain the ability to stand or walk. Type 3 comes on a bit later. Some of the kids are normal until they’re 5, 10 years old—even into their early teens." “What happens is that the neurons stop carrying the signals from the brain to the muscles. It’s like a broken phone signal so the muscles don’t do what you want them to do, which causes them to grow weaker over time.” Zeke is now nine years old, and “he’s the happiest kid I’ve ever met,” said Lerner. “The one ‘upside’ if there is one, is that he’s never known walking and doesn’t miss it. He’s just a happy kid cruising around in his wheelchair. You rarely see him not smiling.” Zeke attends regular school and has an aide provided for him full time by the county. The aide “helps him get things out of his backpack, etc.” The things most kids (and parents) take for granted. He loves video games and listening to music; Coldplay and U2 are by far his favorites. As of now, SMA is incurable and untreatable. But, says Lerner, researchers are on the verge of a real cure. Of course money is needed to continue the work — and raise awareness of this disease. And Chase Community Giving Trust is sponsoring a way in which everyone can help — without giving a penny. Chase is sponsoring a contest of sorts. People go onto a Facebook page, and cast their vote among 100 different charities chosen in an earlier round of the competition. The top vote-getting charity during this week-long final round will receive one million dollars to use in its work. The four runner-ups each receive $100 thousand. The Gwendolyn Strong Foundation (GSF), which supports SMA research, awareness, and advocacy, is one of the top vote-getting charities in the running. It’s in the top 10 as this goes to press. GSF was founded by Bill and Victoria Strong, who named the foundation for their two-year-old daughter who has Type I SMA. Being one of the 100 charities selected for the final competition meant a $25,000 award from Chase. “Within days,” according to GSF’s site, the money was forwarded to a “groundbreaking program at the University of California Irvine, which is going to clinical trials [this year].” If GSF wins the final round, “100 percent of the $1 Million awarded by Chase directly to SMA Awareness and cure-focused research programs.” Lerner feels like “raising money for this isn’t blind drops in a bucket. We’re really close to doing something concrete.” Lerner said that researchers are very close to producing a drug that produces the protein (SMN-2) missing in bodies of those with SMA. “I’ve met the people doing the research and I’ve seen what they’re going to be using it for. I know how much of difference it can make for so many people,” he explained. Anyone who wants to vote for the Gwendolyn Strong Foundation should go to the GSF voting page. First become a “fan” and then cast your vote. It takes 30 seconds, doesn’t cost anything, and you’ll know you’re doing something good for a lot people. Fans can also help out by spreading the word, both about the competition and to raise awareness of the disease in any way they can: Twitter, Facebook, word of mouth. “What’s nice about this project is that no one has to ask for money — just a couple of clicks and a vote. My request is just for everyone to spread the word in whatever way they can for the next day.” [The competition ends at 11:59 p.m. Friday night, January 22.] Of course I could not let Lerner get off the phone without asking him if he can tell me anything about what’s in store for the series. He and Russel Friend have written the episode coming up February 1 (“Moving the Chains”), which guest stars Orlando Jones as Foreman’s brother. “We’re currently working on the season finale,” he told me. “We also co-wrote the episode with Peter Blake and Eli Attie filming now — the one that Hugh Laurie’s directing.” It’s episode 17, guest starring David Strathairn in what Lerner promised would be “an incredible episode.” The next episode of House (“Remorse”) airs Monday, January 25 at 8 p.m. ET. Good luck to Hugh Laurie who’s nominated in the Best Actor category for a Screen Actors Guild (SAG) award. The SAG awards air Saturday night on TNT 8 p.m. ET. Be a Part of a Miracle. Help Cure SMA. 01/15/2010
Chase Community Giving is donating $5,000,000 to charities around the USA. Click on the link below to vote for The Gwendolyn Strong Foundation to help this important charity win a $1 MILLION grant. GSF is focused on raising awareness of SMA, the LEADING genetic INFANT KILLER, and accelerating research to a CURE.  The Issue
SMA -- Spinal Muscular Atrophy -- KILLS more BABIES than any other inherited disease. Babies with SMA are born healthy and their minds are never impacted by the disease. But eventually their bodies FAIL them. Within months of an SMA diagnosis, these vibrant, intelligent children fall PARALYZED and need machines to help them EAT, COUGH, SWALLOW, and BREATHE. 50% DIE before their 1st birthday, 90% by their 2nd. 1 in 40 people UNKNOWINGLY carries the SMA gene. That could be YOU. That could be YOUR child. There is NO treatment and NO cure, but there is HOPE! The National Institutes of Health -- the NIH -- has coined SMA the disease “CLOSEST to TREATMENT”. Leading researchers have stressed that a CURE is POSSIBLE -- IF provided adequate funding. And SMA research is already BENEFITING research into DOZENS of OTHER diseases. This $1 Million WILL have a MATERIAL IMPACT on CURING this CRUEL INFANT KILLER...FOREVER. Be part of a MIRACLE. VOTE: Gwendolyn Strong Foundation. The Plan The Gwendolyn Strong Foundation -- GSF -- is solely focused on raising awareness of SMA, the LEADING genetic INFANT KILLER, and accelerating research to a CURE. Chase Round One...Within days of being notified by Chase and in anticipation of receiving the $25,000 award for being voted in the top 100 charities, GSF sent $25,000 to a GROUNDBREAKING SMA RESEARCH program at UC Irvine that will be going to human clinical trials in 2010 and has the real potential to CURE SMA. This funding is ALREADY in the HANDS of RESEARCHERS and being used in the lab. Chase Final Round...GSF will direct 100% of the $1 Million awarded by Chase directly to SMA AWARENESS and CURE FOCUSED RESEARCH PROGRAMS. Who better to decide where this critical funding goes than those directly impacted by this cruel disease. GSF will select the MOST PROMISING SMA projects in need of funding and EMPOWER the SMA community to decide how the $1 Million is distributed. Be part of a MIRACLE. VOTE: Gwendolyn Strong Foundation. The Outcome The Gwendolyn Strong Foundation -- GSF -- will move swiftly to put the CRITICAL FUNDING to IMMEDIATE WORK creating UNIQUE awareness CAMPAIGNS and getting the money into the HANDS of the RESEARCHERS who are on the BRINK of that CURE. $1 Million is an EXTREMELY MATERIAL amount of funding for SMA and WILL HELP CHANGE THIS DISEASE FOREVER. Within 90 days after winning the Chase Community Giving campaign, GSF's advisory board will select the MOST PROMISING SMA projects in need of funding. GSF will then execute a unique online voting campaign and distribute ALL FUNDS to the winning programs voted MOST IMPORTANT by the SMA community. YOU, with a vote for GSF in the Chase Community Giving campaign on Facebook, have an opportunity to help CURE SMA and SAVE the BEAUTIFUL BABIES it KILLS. $1 Million WILL help CURE SMA, END a disease, SAVE children, SAVE lives, CHANGE the FUTURE...FOREVER. Be part of a MIRACLE. VOTE: Gwendolyn Strong Foundation. California Stem Cell Closes Financing Round to Enable Advancement of its Therapeutic Products to Human Clinical Trials including for Spinal Muscular Atrophy. December 21, 2009. FSMA has invested almost $2 Million over the last 8 years to develop this motor neuron replacement therapy for SMA. CSC is a privately held company developing proprietary therapeutic products to treat several neurodegenerative diseases, as well as innovative stem cell based human cell products to facilitate research and conventional drug discovery. Its lead therapeutic candidate, MOTORGRAFT™, is a stem cell-derived motor neuron replacement for the treatment of Spinal Muscular Atrophy (SMA), a genetic disorder that causes the deterioration of the muscles that control crawling, walking, swallowing and breathing and for which there is no current treatment. CSC has completed pre-clinical GLP safety and efficacy studies to support filing of an Investigational New Drug Application (IND) for the treatment of SMA. MOTORGRAFT TM was recently granted orphan drug designation and the company held a Pre-IND meeting with the FDA last October. CSC anticipates a Phase I safety study to begin in 2010. “The ability to raise money in this difficult economic environment is a testament to the significant progress we’ve made the last year in advancing our clinical development programs and developing innovative new research tools. Backed by excellent science and a strong management team, CSC has the momentum, vision, technology and now capital to advance its cell-based therapies and bring its innovative products to the market,” stated Chris Airriess, CSC’s Chief Operating Officer. Click here for the full press release. Click here for a recent news item on the SMA program. California Stem Cell, Inc And Families Of Spinal Muscular Atrophy Reach Significant Milestone In Development Of Motor Neuron Treatment For SMA IRVINE, Calif. (December 7, 2009) California Stem Cell, Inc. (CSC) and Families of Spinal Muscular Atrophy (FSMA) announced today that the FDA has granted orphan drug designation to MOTORGRAFTTM, a stem cell-derived motor neuron product, for the treatment of Spinal Muscular Atrophy (SMA). Orphan drug designation, granted by the FDA Office of Orphan Products Development, provides several incentives to companies in the private sector developing novel drugs or biologics to treat diseases with relatively small market potential. These include seven years market exclusivity following FDA approval, clinical trial design assistance, reduced user fees and tax credits. CSC developed MOTORGRAFT™ as a stem cell-derived motor neuron replacement product for the treatment of SMA. Pre-clinical GLP safety and efficacy studies, funded significantly by the Families of Spinal Muscular Atrophy and conducted by Professor Hans S. Keirstead of the University of California at Irvine, have demonstrated safety and functional benefit in several animal models. SMA, the leading genetic killer of infants, causes the deterioration of the muscles that control crawling, walking, swallowing and breathing and affects approximately 1 in 6000 babies born. In the US approximately 7.5 million people (1 in 40) are carriers of the defective gene. There are no currently approved therapies for the treatment of SMA. CSC recently completed a formal pre-IND meeting with the FDA to discuss the clinical and regulatory pathway for submission of an application to initiate human trials using this therapy for the treatment of SMA Type I. The company expects to file an IND to begin a Phase I safety study in 2010. "We are extremely encouraged to receive orphan-drug designation for MOTORGRAFT™" said Chris Airriess, CSC's Chief Operating Officer, 'this is a major milestone in realizing our commitment to find a treatment for SMA." "Families of SMA is pleased to see this promising therapy advancing towards clinical trials" said Jill Jarecki, Research Director for FSMA, "Orphan Designation will provide CSC with all the opportunities afforded by Orphan Drug Act of 1983, which is intended to facilitate a close working relationship between regulatory agencies and companies with the aim of accelerating the drug development and approval processes for rare diseases." ### About California Stem Cell, Inc (www.californiastemcell.com): California Stem Cell, Inc is a privately held company focused on the manufacture of high-purity human cells for drug development and clinical application. Since its founding in 2005, CSC has developed and has intellectual property surrounding methods for scalable production of human motor neurons, neuronal progenitors, and cardiomyocyte progenitors cells at its Irvine, California facility. CSC is currently in the pre-clinical development stage of stem cell-derived therapies for spinal muscular atrophy (SMA), ALS and spinal cord injury. About Families of Spinal Muscular Atrophy (www.fsma.org): Families of SMA is a non-profit 501(c)3 tax exempt organization with 27 Chapters throughout the United States and over 65,000 members and supporters. Families of SMA funds and directs the leading SMA research programs. The successful results and progress from basic research to drug discovery programs to clinical trials provide real hope for families and patients. Posted on December 2, 2009 in Spinal Muscular Atrophy Science and Research From the Washington Post: NIH authorizes use of first human embryonic stem cells under new policy By Rob Stein Washington Post Staff Writer Wednesday, December 2, 2009; 1:01 PM The Obama administration on Wednesday approved the first human embryonic stem cells for experiments by federally funded scientists under a new policy designed to dramatically expand government support for one of the most promising but also most contentious fields of biomedical research. The National Institutes of Health authorized 11 lines of cells produced by scientists at the Children’s Hospital in Boston and two lines created by researchers at the Rockefeller University in New York. All were obtained from embryos left over by couples seeking treatment for infertility. “This is a real change in the landscape,” NIH Director Francis Collins said. “This is the first down payment on what is going to be a much longer list . . . that will empower the scientific community to explore the potential of embryonic stem cell research.” According to Johns Hopkins University Associate Professor of Neurology, Molecular Microbiology and Immunology, Dr. Douglas Kerr, author of multiple papers about embryonic stem cells and friend of FightSMA, “this is a significant event since it has really increased the number of embryonic stem cell lines available for researchers to study in understanding and ultimately treating human diseases.” He goes on to say, “It’s even more significant since the previously approved embryonic stem cell lines had a variety of problems including chromosomal abnormalities and culture conditions that would make them potentially unsafe in humans. These new ES lines don’t have those problems and this promises to advance research forward.” To read the complete Washington Post article, click here. To read the press release issued by NIH, click here. Spinal Muscular Atrophy Foundation Funds Over $15 Million to Develop Treatments for the Leading Genetic Killer of Infants and Toddlers The Spinal Muscular Atrophy Foundation, a nonprofit organization dedicated to finding a treatment or cure for spinal muscular atrophy (SMA) -- the leading genetic killer of infants and toddlers -- announced that is has funded more than $15 million in research in the last 18 months. Projects were selected from a large pool of industry and academic investigators on the basis of scientific promise and potential to advance therapeutics development. The Foundation continues to seek out innovative and high quality research opportunities particularly those in the neuroscience biotechnology sector. Spinal Muscular Atrophy is a genetic motor neuron disease caused by the progressive degeneration of nerve cells in the spinal cord and brainstem, leading to muscle weakness, respiratory complications and premature death. Having been identified by researchers as the neurological disease closest to a treatment, SMA has been selected by the National Institute of Neurological Disorders and Stroke (NINDS) to serve as the prototype for a translational research project that is expected to yield drug candidates for Investigational New Drug Application (IND) filings within three to five years. The SMA Foundation estimates that there are currently 55,000 people suffering from SMA in the United States, Europe and Japan and that a conservative annual market potential for an SMA treatment could exceed $500 million. The SMA Foundation has been a major catalyst in the fight against this disease and has demonstrated their commitment to finding a treatment or cure by providing the necessary funding to advance cutting edge research. Funded projects span the spectrum of basic, translational clinical research. In 2004, the SMA Foundation forged a number of biotech partnerships -- two of the larger transactions with Curis, Inc. and CombinatoRx were each valued in the single-digit, million dollar range. For 2005, the Foundation will place an increasing emphasis on drug development efforts with the biotechnology industry. The Foundation continues to fund strong academic research endeavors that have a high use value to translational research. The following organizations have received funding: Academia Sinica -- Taiwan Albert Einstein College of Medicine American Academy of Neurology Childrens Hospital Boston The Childrens Hospital of Philadelphia Cold Spring Harbor Laboratory Columbia University Medical Center CombinatoRx Curis, Inc. The Jackson Laboratory MIT / The Whitehead Institute Northwestern University The Ohio State University PsychoGenics, Inc. Stanford University Texas Scottish Rite Hospital for Children University of Rochester University of Utah University of Wrzberg -- Germany Washington University About SMA Foundation The SMA Foundation is a nonprofit organization founded in 2003 dedicated to finding a treatment and potential cure for Spinal Muscular Atrophy (SMA). The Foundation provides funding for the full range of research from basic to clinical work conducted in academic laboratories as well as corporate therapeutics development. In addition, the Foundation is committed to raising awareness, education and increased federal funding and support. For more information on the Spinal Muscular Atrophy Foundation, visit www.smafoundation.org or call (646) 253-7100. . Media Contact: Bryan deCastro, (631) 495-9177 bdecastr@optonline.net Cynthia Joyce, (646) 253-7100 cjoyce@smafoundation.org Author Information Bryan deCastro Spinal Muscular Atrophy Foundation November 17, 2009, 8:55 AM Hans Keirstead Can Make Mice Walk Again (and Humans, Too?) Seven years ago, he used stem cells to make paralyzed rats walk again. Next year his stem cell elixir will be injected into humans. What's next? It's anyone's guess. By M.A. Woodbury In 2002, at his lab at UC-Irvine, Hans Keirstead delicately sliced open the spines of eight lab rats with a scalpel, then not so delicately punched into their spinal-cord tissue with the force of two hundred kilodynes. A week later, he reached for a vial inside which was something most of the scientific world believed was impossible: a stem-cell solution so pure that the risk of any newly derived nerve cells morphing into tumors had been all but eliminated. He drew some liquid from the vial and injected his elixir — set to grow into oligodendrocytes, which help ferry movement-generating electric impulses into muscles — into the spines of the recently paralyzed rats. Then an assistant grabbed a camera. The resulting video was short, but its meaning was unmistakable: The rats stood up and wobbly walked. The clip went viral and the public cheered. But many of Keirstead's colleagues were less sanguine. Was the science right? they wondered. He hadn't even published a paper on it yet. As early as this spring, we'll begin to find out. Pending one final review, next year a handful of paralyzed men and women are set to get Keirstead's high-purity stem cells injected directly into their spinal cords, above and below the injury site. Conducted by the Geron Corporation — to whom Keirstead turned over his research — it will be the first-ever test of purified stem cells in humans. Again, the public is mesmerized by what could happen, and again, Keirstead's colleagues are nervous. If the phase-one trial exacerbates a subject's condition or, far worse, kills one, Keirstead's test won't just fail, it could retard progress on stem cells for decades. He is in effect taking the first major step on stem cells for everyone. And he's doing it with a novel therapy that has a shorter paper trail than most. Aware of the stakes, the FDA temporarily put the brakes on the trial in August, weeks before it was originally set to begin, so it could rereview the data. But Keirstead is unfazed. He has confidence in his work. The trial application Geron submitted was the longest ever — twenty-two thousand pages — all pointing toward the success and efficacy of Keirstead's method. He feels certain the trial will go forward. "My guess is that the FDA got new supporting data that is very interesting and they just need time to vet it." But Keirstead says he doesn't have time to wait. And neither do the infants born with spinal muscular atrophy, a genetic mutation that often kills within twelve months of birth. He has already moved on to securing FDA approval for what would be the world's second clinical trial of human embryonic stem cells to test a different stem-cell-derived nerve cell — the motor neuron — on infants with SMA. This go-round, he wants to increase velocity. No dribbling out a paper here and there and waiting for his colleagues' comments. "This motor-neuron story, not a single publication out on it yet, but I'm going to the FDA!" trills Keirstead, forty-two. "I did everything at once this time: I did a manufacturing facility. I formulated the clinical plan, gathering all the medical doctors. I did the preclinical efficacy, preclinical safety, lined it all up side by side, moved it all forward." Sure, he has a handful of papers on his motor-neuron story in review, but those are almost an afterthought. Cures don't come from pushing paperwork. Back in his office, where Keirstead awaits final word from the FDA on the oligodendrocytes trial, he points to a framed rejection letter. In regards to his pure nerve cells that most thought were an impossibility, a journal reviewer wrote: "If these findings are true, this would be the most meaningful discovery in the stem-cell field. But I simply don't believe it." Read more: http://www.esquire.com/features/best-and-brightest-2009/human-embryonic-stem-cell-research-1209#ixzz0X8sBJNJg Researchers Identify Gene for Rare Form of Spinal Muscular AtrophyNovember 15, 2009 — admin
Researchers Identify Gene for Rare Form of Spinal Muscular Atrophy TUCSON, Ariz. — Flaws in a gene known as UBE1 have been identified as the cause of a rare, X-chromosome-linked form of spinal muscular atrophy (SMA), a severe neurodegenerative disease, the Muscular Dystrophy Association (MDA) announced today. Lisa Baumbach-Reardon, an associate research professor and head of the Neurogenetics Laboratory at the University of Miami (Fla.), who received MDA support for this work, led the study team with Alfons Meindl at Technical University Munich (Germany). The researchers published their findings in today’s issue of the American Journal of Human Genetics. Having a second gene identified that causes symptoms of SMA is extremely important, not only for the development of better diagnostic tests but also for the development of new animal models and new therapeutic approaches,” said Sharon Hesterlee, MDA vice president for translational research. The vast majority of SMA cases are caused by a mutation in the SMN1 gene on chromosome 5, which was identified in the mid-1990s. The chromosome-5 form of the disease affects both sexes and ranges in severity from the very severe and often-fatal infantile-onset form (type 1) to the somewhat less severe forms, type 2 and type 3. The X-chromosome form of the disease, which affects male babies, occurs in a small percentage of SMA cases. Its exact incidence is unknown. The disease closely resembles the type 1, chromosome-5 form of SMA in all respects except that it also affects the joints, which are not affected in chromosome-5 SMA. The X-linked disease, which is present at birth, results in low muscle tone, absent reflexes, and multiple contractures (frozen joints) in association with loss of muscle-controlling nerve cells (motor neurons) in the spinal cord. It leads to death within two years. The underlying genetic cause is any of a number of abnormalities (mutations) in a gene on the X chromosome that carries instructions for “ubiquitin-activating enzyme E1” (UBE1). This enzyme’s normal job in cells is to help attach ubiquitin molecules to proteins the cell needs to destroy. The ubiquitin “tag” marks proteins for destruction. Altered function of this protein disposal system is the likely mechanism by which X-linked SMA occurs. The investigators screened four North American, one Mexican and one Thai family in which X-linked SMA was suspected and compared their X chromosomes to X chromosomes from unaffected people. They screened 3,550 chromosomes from unaffected people for two of the UBE1 mutations suspected of causing X-linked SMA and found no instances of either mutation. A third suspected mutation in the same gene was not found in 7,914 chromosomes from people without the disease. “This study is the culmination of 15 years of investigation, starting with identification of the first families with X-linked SMA, through years of gene-mapping studies to finally, last year, gene discovery and mutation identification. “It’s been a long road, but we never gave up, because we promised the families who have this devastating illness that, with their participation in our research studies, we would someday identify the causal disease gene,” Baumbach-Reardon said. “Along the way, we’ve worked with an international team of geneticists, genetic counselors and scientists. We all share in the excitement and the hope that this discovery brings.” About MDA MDA is a voluntary health agency working to defeat more than 40 neuromuscular diseases, including SMA, through programs of worldwide research, comprehensive services, and far-reaching professional and public health education. For more information, visit www.mda.org. Posted in Genetic Therapy. RSS. Trackback. |
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