Agnes Costa (click the image for a larger version)

We’d like you to meet Agnes Costa. She’s a wonderful little girl from Portugal. She and her family are the latest FightSMA Featured Family! Here’s what Agnes’ mother, Cristina, said when she wrote in:

Hello! We are the parents of Agnes, who has Spinal Muscular Atrophy Type 1! She was diagnosed at the age of 8 months.   Agnes is currently three years. In our country we do not have many people to talk about this disease other than physicians who treat my daughter! It is through Facebook we exchanged ideas with other parents about the disease.

Agnes’ mother also sent us a video.  The video titles are in Portugese, of course, where Agnes is “Inês”.  You can see it below.  Thanks so much for sharing your daughter with us!

If you’d like to be a FightSMA Featured Family, just click here and sign up!

Jasmine and her dad, "Shrek" (click for larger version)

We’d like you to meet Jasmine Rankin and her Dad.  Jasmine is a beautiful and special young adult from the United Kingdom with SMA Type 2, who wrote to us because she wanted her family to be the first of our FightSMA Featured Families.  Wish granted!  Here’s what Jasmine had to say:

This is a photograph of me and my dad on my 18th Birthday, I was obviously a bumblebee and he was Shrek! I don’t know what I’d do without Shrek.  He’s like my best friend as well as my dad!  I tell him everything, and he would do anything for me.  I’m so grateful to have someone so special in my life.

We’re grateful to have Jasmine and her dad as our first FightSMA Featured Family!

 If you’d like to be a FightSMA Featured Family, just click here and sign up!

1680 Duke St.
Fourth Floor
Alexandria, VA 22314

If you’d like to contact us via phone, use these numbers:

Ron Imbach: 703.647.5030
Danielle Chan: 703.647.5031

Project Mariposa will initially focus on granting iPads to those impacted by Spinal Muscular Atrophy (SMA) — 50 iPads in 50 weeks. These incredible devices, coupled with the growing application library that accompanies them, are literally life-changing in assisting with communication, education, and independence. The iPad is opening up new avenues that were previously impossible. It’s large screen size, light weight, portability, and featherlight touch screen make access to education, entertainment, and independence possible and in some cases it is allowing children to communicate for the first time in their lives. Project Mariposa’s goal is to provide that life-changing positivity for a large number of people.

Applications are now being accepted. The first grant recipient will be announced on Friday, February 3, 2012. One grant recipient will be announced each week via theGSF Facebook Fan Page.  To submit your application, click here!

I am overjoyed and honored to have been selected as the new executive director for FightSMA.  This is a great cause, and I feel we can make significant progress toward an effective treatment and cure for SMA.  I feel tremendous gratitude and appreciation for the work of our Board during the selection process and now during our transition.  Martha and Joe Slay have been tremendously helpful.  Dan Hayden and I have regular transition discussions, and I have been getting to know our entire Board.  We have a very talented group, and I appreciate all of their ideas and encouragement to me.

Ron Imbach and his son, Kyle

So, as a supporter, a family with a child with SMA, a volunteer, etc., you are probably asking, “well who is Ron Imbach and how will he help our cause and lead our organization?”  A little bit of my professional background and results are in the press release that is posted on the web site.  To summarize, I have been an executive and leader for non-profit and for-profit organizations for over 20 years.  I have raised a lot of money for worthy causes at three charities over the past 12 years.   My experience includes positions with small organizations, similar to FightSMA, medium-sized companies, and very large national and multinational organizations.  My leadership, motivational skills, coaching, and training have enabled the teams that I have managed to thrive. I will bring that same leadership to FightSMA.  Finally, my background is very broad.  My undergraduate degree is more technical with double majors in accounting and economics, and my early career included significant positions in public accounting and for a political campaign.  I transitioned to business development and sales several years ago and completed my MBA with a concentration in marketing and public policy at George Washington University.  I have even owned and operated my own business, so I am very comfortable being the visionary leader, but I have the skills to understand the day-to-day operations and financial issues facing FightSMA as well.  This broad background will be a great asset for the organization.

Now, you may ask, “who are you really?  We can learn most of this information from your resume.”  I grew up in Martinsburg, West Virginia, about 75 miles from the Washington, DC area.  It’s a small town, but I experienced many new places during my childhood travelling with my parents, and I was often part of the “voluntary greeting committee for new kids coming to my school.”  I just love getting to know new people and hear their stories.  That apparently has not changed.  I still love that part of the work that I do now.  I was very active in school, a very good student, active in sports, and various other activities.  Little did I know that my initial charitable volunteering for “hunger walks” in my early teens would be a prelude for the focus of my life’s work.  I attended college near my home and really enjoyed college.  I was very active in a business fraternity and took leadership roles with clubs and other groups.  I even worked as an accountant for a few years while in school.  Of course, this was also a great opportunity for an extrovert like me to get to know a whole new group of interesting people.

Upon graduation, I moved to the Washington, DC area, specifically Northern Virginia and have lived here since then.  I have been in Alexandria for the past 15+ years, which will be the future home of our new national office.  I have a 14 year-old son who is preparing for his first year in high school next year.  At 6’0 tall and 170 lbs., I find us getting our clothes and shoes mixed up regularly.  I am very proud of him and am getting him more and more involved in community service and volunteering.  That’s our responsibility as good citizens.  I have been involved in volunteering and charitable work for a number of local causes outside of my work professionally and have been an active member of my church since 1996.

My interests are diverse.  I love history, self-help, and some tech subjects in my reading.  Travelling is a passion for me as well as spending time with family and friends.  My relationships are long-term with many friendships of 25-30 years or more.  I enjoy tennis, golf, swimming, movies, hiking, and trying to stay fit.  I also have a passion for personal investing, including real estate and securities.  My life is busy and full, and I tend to have a lot of energy and like being busy.

Hopefully, this will give you a snapshot of me, and I hope I am able to meet all of our families and supporters over the coming years.  I am humbled and honored to be the executive director of FightSMA.  As I have told Board members that I have spoken to, “I believe we all want to be remembered for something positive, our legacy for our family, friends, and in our communities.”  I truly feel that for those involved with FightSMA, you are part of a great cause.  We have the opportunity to help find an effective treatment and cure for a terrible disease that attacks the youngest and most vulnerable in our society.  It isn’t fair, and for all of our families with children with SMA, we will support you and pray for you.  We’ll also offer hope and support.  We will work hard using our resources to advance research and grass roots efforts to support our cause.  All of your kids are special , and as the new executive director of FightSMA, I will work diligently to establish our legacy in the fight against SMA.

(WASHINGTON, DC) – FightSMA, an international nonprofit organization created to strategically accelerate the search for a treatment and cure for spinal muscular atrophy (SMA), has named Ron Imbach as its new Executive Director, effective Dec. 1, 2011.

Ron Imbach succeeds the current CEO and founder of FightSMA, Martha Slay, who guided the organization from its inception in 1991 until the present. Under Martha’s leadership, FightSMA has grown from an initial crusade to bring higher levels of awareness and understanding of spinal muscular atrophy (SMA) to the public to a leading advocate and research-centered organization focusing on the treatment and cure of the disease and support for the families of children with SMA.

“For the past 20 years, Martha Slay has led FightSMA with great passion, intelligence, and dedication; the SMA community owes her a great deal of gratitude for her accomplishments,” said FightSMA Chair Mike Calise. “She has been a great inspiration to us all personally and professionally.”

Martha and her husband, Joe Slay, will continue to be actively involved as board members for FightSMA.

Ron Imbach has worked in non-profit organizations in fundraising and leadership roles for the past twelve years, including: the Campaign for Tobacco-Free Kids, Volunteers of America, and the Wesley Theological Seminary. Through Ron’s leadership, expertise, and diligence, the charities he has served have benefitted greatly with major, planned, and corporate gifts totaling well over $100 million. He is also an accomplished speaker and trainer, speaking to audiences of 5000 or more and training hundreds of staff and other groups. According to Dan Hayden, Board member and head of the transition committee,

“Ron’s experience and track record of results have helped Ron become a visionary leader as well as a strong manager and motivator. ”

Prior to working with charities, Ron was a financial advisor with a major brokerage firm, focusing on retirement and estate planning while raising and managing several million dollars in assets. He was also a business development executive and worked in management positions in accounting and consulting in the private sector. He has also owned and operated his own business. Chairman of the Board, Michael Calise continued,

“We are also extremely excited to have Ron Imbach joining FightSMA as Executive Director. His vast experience in the nonprofit and business sectors will benefit FightSMA greatly and make him a great leader of our organization. Ron is very passionate about FightSMA and will challenge each of us to have our legacy be finding a treatment or cure for SMA.”

Ron was very active and excelled academically while completing his MBA at George Washington University with a concentration in marketing and public policy and his undergraduate studies at Shepherd University, majoring in accounting and economics.

FightSMA is also in the process of moving its national headquarters from Richmond, Virginia to the Washington, DC Metropolitan area in early 2012.

For more information about Spinal Muscular Atrophy, visit FightSMA’s SMA Guidebook.

Founded in 1991, FightSMA (also known as “Andrew’s Buddies”) has awarded spinal muscular atrophy research grants at more than 40 universities and research institutions in the United States, Canada, the United Kingdom, France, and Italy. For more information, please visit: http://www.fightsma.org.

CARLSBAD, Calif., December 19, 2011 – Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced today that it has initiated a Phase 1 study of ISIS-SMNRx in patients with spinal muscular atrophy (SMA). SMA is a severe motor-neuron disease that is the leading genetic cause of infant mortality. Isis is developing ISIS-SMNRx as a potential treatment for all Types of SMA.

“SMA is a devastating disease that leads to the loss of motor neurons resulting in muscle weakness and respiratory failure in children. The genetic cause of this disease is well understood, but there are currently no effective disease-modifying therapies. Currently, treatment of SMA is entirely symptomatic and focuses on preserving muscle strength and lung function by physical therapy and assisted ventilation. This supportive approach has improved the natural history of SMA by extending life expectancy, but muscle weakness and atrophy are not affected. A disease-modifying drug like ISIS-SMNRx that specifically targets the cause of the disease could, for the first time, restore muscle strength and respiratory function and dramatically improve the children’s function and quality of life,” said Darryl C. De Vivo, M.D, Sidney Carter Professor of Neurology and Pediatrics and Co-Director of the Motor Neuron Center at Columbia University Medical Center.

SMA is a severe genetic disease that affects approximately 30,000 – 35,000 patients in the United States, Europe and Japan. One in 50 people, approximately 6 million people in the United States, are carriers of the SMA gene. Carriers experience no symptoms and do not develop the disease, however, when both parents are carriers, there is a one in four chance that their child will have SMA. SMA is caused by a loss of, or defect in, the survival motor neuron 1 (SMN1) gene leading to a decrease in the protein, survival motor neuron (SMN). SMN is critical to the health and survival of nerve cells in the spinal cord that are responsible for neuro-muscular growth and function. The severity of SMA correlates with the amount of SMN protein. Infants with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and have shortened life expectancy. Children with Type II and Type III have greater amounts of SMN protein and less severe, but still life-altering forms of SMA. ISIS-SMNRx is designed to treat all types of childhood SMA by altering the splicing of a closely related gene (SMN2) that leads to the increased production of fully functional SMN protein.

“Our strategy to treat SMA relies on a simple, powerful antisense method that boosts SMN protein levels by fixing a genetic RNA splicing glitch. Working with Isis, we have successfully redirected splicing to increase functional SMN production. We have thoroughly validated this approach in multiple animal models, observing marked improvement in modifying the disease course in both mild and severe models of SMA,” said Adrian Krainer, Ph.D., Professor of Molecular Genetics at Cold Spring Harbor Laboratory in Long Island, NY. “We look forward to translating this important discovery into an effective treatment for this serious disease.”

“SMA represents a serious unmet medical need with no currently available treatments. ISIS-SMNRx is our first drug to intervene in the splicing of RNA to increase the production of a normal protein, SMN. Together with Dr. Krainer’s lab, we have validated the antisense approach to treating this disease and are now advancing this program into clinical studies,” said C. Frank Bennett, Ph.D., Senior Vice President of Research at Isis. “We are committed to quickly developing this drug and are finalizing what we believe will be a rapid development path for this drug in all types of SMA. Once we evaluate ISIS-SMNRx as a single-dose in children with SMA, we will move to multiple-doses in our Phase 1 studies and eventually evaluate the drug in Phase 2 studies in children with SMA, including infants with Type I SMA.”

The Phase 1 study of ISIS-SMNRx is a single-dose, dose-escalation study designed to assess the safety, tolerability and pharmacokinetic profile of the drug in children with SMA between the ages of 2-14 who are medically stable. In this study, ISIS-SMNRx will be administered intrathecally as a single injection directly into the spinal fluid. Intrathecal administration of an antisense drug, ISIS-SOD1Rx, has been shown to be safe and well tolerated in an ongoing Phase 1 study in patients with amyotrophic lateral sclerosis.

“SMA is a heartbreaking disease. Children with SMA are bright and engaging, but often never achieve the simplest motor milestones like walking, crawling, and sitting up. Many do not live to reach kindergarten. In milder cases, SMA patients inexorably grow weaker and experience the loss of the few abilities they did acquire. In addition to motor losses, SMA patients young and old are at constant risk of tragic consequences from simple respiratory infections that you and I take in stride,” said Karen S. Chen, Ph.D., Chief Scientific Officer at the SMA Foundation. “If you consider that this is the normally bleak clinical outlook for these patients, you can understand why the ISIS-SMNRx trial represents such a watershed moment for SMA. The landmark science behind ISIS-SMNRx is compelling and it has a chance to fill the therapeutic void for SMA and transform the hopes and futures of thousands of patients and families.”

“We are very pleased to see the great milestone of a disease-modifying drug treatment advancing into clinical trials in SMA patients,” said Kenneth Hobby, President of Families of SMA. “Our community has worked for a long time to reach the goal of moving specific therapies for SMA from the bench and into the clinic. This has been made possible by close interactions between basic researchers, families, clinicians, and industry. Families of SMA applauds ISIS for investing in and leading drug developments efforts for this devastating, orphan disease.”

“We see real promise in therapeutic strategies for SMA that increase production of the SMN protein,” said Muscular Dystrophy Association Executive Vice President Research and Medical Director Valerie Cwik, M.D. “We’re delighted ISIS Pharmaceuticals is moving forward with a Phase 1 dose-escalation study of its antisense drug in children with SMA.”

Isis acknowledges support from the following organizations for this program: Muscular Dystrophy Association, SMA Foundation, Families of SMA and intellectual property licensed from Cold Spring Harbor Laboratory and the University of Massachusetts Medical School.

The United States Food and Drug Administration granted Orphan Drug Designation with Fast Track Status to ISIS-SMNRx for the treatment of patients with SMA.

For more information on the Phase 1 study of ISIS-SMNRx please visit: www.clinicaltrials.gov.

About Splicing
Splicing is a normal mechanism that the cell uses in order to produce many different, but closely related proteins from a single gene by varying the processing of the RNA. It is estimated that of the approximately 25,000 genes in the human genome, approximately 90% have alternative splice forms. In some cases, alternative splicing of RNA results in the production of proteins that are involved in disease. These diseases are referred to as splicing diseases and include SMA, cystic fibrosis and Duchenne’s muscular dystrophy.

ABOUT COLD SPRING HARBOR LABORATORY
Founded in 1890, Cold Spring Harbor Laboratory (CSHL) has shaped contemporary biomedical research and education with programs in cancer, neuroscience, plant biology and quantitative biology. CSHL is ranked number one in the world by Thomson Reuters for impact of its research in molecular biology and genetics. The Laboratory has been home to eight Nobel Prize winners. Today, CSHL’s multidisciplinary scientific community is more than 350 scientists strong and its Meetings & Courses program hosts more than 11,000 scientists from around the world each year. Tens of thousands more benefit from the research, reviews, and ideas published in journals and books distributed internationally by CSHL Press. The Laboratory’s education arm also includes a graduate school and programs for undergraduates as well as middle and high school students and teachers. CSHL is a private, not-for-profit institution on the north shore of Long Island. For more information, visit www.cshl.edu.

ABOUT THE UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL
The University of Massachusetts Medical School attracts more than $300 million in research funding annually, and its innovative programs are the centerpiece of the Massachusetts Life Sciences Initiative. Consistently ranked by U.S.News & World Report as one of the leading medical schools in the nation for primary care education, UMMS is a leader in health sciences education, research and public service and home to 2006 Nobel Laureate Craig C. Mello, PhD, co-discoverer of RNA interference. UMMS is the academic partner of UMass Memorial Health Care. To learn more, visit www.umassmed.edu.

ABOUT ISIS PHARMACEUTICALS, INC.
Isis is exploiting its leadership position in antisense technology to discover and develop novel drugs for its product pipeline and for its partners. Isis’ broad pipeline consists of 28 drugs to treat a wide variety of diseases with an emphasis on cardiovascular, metabolic and severe and rare/neurodegenerative diseases, and cancer. Isis’ partner, Genzyme, plans to commercialize Isis’ lead product, mipomersen, following regulatory approval, which is expected in 2012. Isis’ patents provide strong and extensive protection for its drugs and technology. Additional information about Isis is available at www.isispharm.com.

ISIS PHARMACEUTICALS’ FORWARD-LOOKING STATEMENT
This press release includes forward-looking statements regarding the discovery, development and potential of drugs for severe and rare diseases, and the development, activity, therapeutic potential and safety of ISIS-SMNRx. Any statement describing Isis’ goals, expectations, financial or other projections, intentions or beliefs, including the planned commercialization of mipomersen, is a forward-looking statement and should be considered an at-risk statement. Such statements are subject to certain risks and uncertainties, particularly those inherent in the process of discovering, developing and commercializing drugs that are safe and effective for use as human therapeutics, and in the endeavor of building a business around such drugs. Isis’ forward-looking statements also involve assumptions that, if they never materialize or prove correct, could cause its results to differ materially from those expressed or implied by such forward-looking statements. Although Isis’ forward-looking statements reflect the good faith judgment of its management, these statements are based only on facts and factors currently known by Isis. As a result, you are cautioned not to rely on these forward-looking statements. These and other risks concerning Isis’ programs are described in additional detail in Isis’ annual report on Form 10-K for the year ended December 31, 2010 and its most recent quarterly report on Form 10-Q, which are on file with the SEC. Copies of these and other documents are available from the Company.

I hope that all is well and that you and your families are enjoying a lovely and refreshing holiday season.

For the last 20 years, Joe and I have had the privilege of knowing you and working with you shoulder to shoulder to build awareness for SMA and to fuel research that will one day alleviate the suffering of our community.

As founders, we had a dream to see a network of zealous parents, researchers, families and friends, both individual and corporate, committed to fight SMA. We have seen this dream come true and now our organization is poised to move forward into a new season of opportunity.

I am delighted to announce that Ron Imbach, a non-profit executive with over 12 years of fundraising experience has accepted the position of FightSMA Executive Director and joined the FightSMA Board of Directors. Most recently Ron has worked in development and leadership for Volunteers of America and The Campaign for Tobacco-Free Kids. We are delighted that Ron has joined FightSMA. Ron will work closely with our Board of Directors and Scientific Advisory Committee to strategically develop the FightSMA path forward.

Joe and I will remain active members of the FightSMA Board of Directors and committed to the life and prosperity of the SMA Community.

All the best,

Martha