h d s a . o r g A P R I L 2 0 0 8 Great Events, Great People and Great Hope for the Future By Barbara T. Boyle, National Executive Director/CEO have just returned from an amazing experience,Fahey families for all of their hard work over the I one that re-energized me, and reminded me what people can do when they truly work together. The 8th Annual ADE for HD Dinner was held last eight years. Joe Fahey, a long-time local HD leader, received a special plaque in recognition of all he has done for the organization over the years. This event, held in a rural area with a population of on Saturday, April 19th at the Knights of Columbus Hall in New Prague, MN. There were 300 tickets under 5,000, has raised over $200,000 since its sold with over 250 people in attendance - a full inception eight years ago. house! The evening started with a social, followed And while the final accounting is underway by a great dinner and silent and live auction. as I write this note, it looks as if this year’s event It was my great pleasure to be able to raised over $30,000! speak to all who attended about how important The ADE for HD Dinner is an amazing example of grass roots fundraising. So often we their support is to our scientists and our Centers of Excellence, in addition to our educational andthink the best fundraisers come of out of the large advocacy efforts. metropolitan communities. But the reality is that in It was a particular honor for me to to besmall towns like Belle Plaine, MN, residents know able to give special recognition to the Stier andthe HD families, work along side them, go to church with them, send their Barbara Boyle and Leon Tibben flank honoree, Joe kids to school together, and on Fahey, at the ADE for HD Dinner in Belle Plaine, MN and on. When a member or family of a small community suffers from such a devastating illness such as HD, the turnout in support of that family can sometimes be phenomenal. This dinner is a perfect example of that phenomena, one I’ve seen in communities of all sizes throughout the U.S. That’s really the key factor in our quest to find the answers to Huntington’s Disease: all of us working together, supporting each other, stepping in where help is needed (continued on page 4) HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A HDSA’s 23rd Annual National Convention June 6-8, Omni William Penn Hotel, Pittsburgh, PA he 23rd Annual HDSA National HDSA national Board members. T Convention is just around the corner— if you haven’t made your s As k t h e S o c i a l S e c u ri t y A d m i n i s t ra t i o n – On Friday and reservations as yet please do so today. Saturday register to meet with rep- You can either fax in the registration resentatives of the Social Security form found on pages 12 and 13 of this Administration to discuss disability e-newsletter, or visit the HDSA website, (SSDI), supplemental income (SSI) www.hdsa.org to register on-line. You’ll and any other hot topic. You can find a complete program for this year’s register for an appointment at the Convention on pages 14-20 of this e- Social Security desk in the Exhibit newsletter. Hall. Please note that information This year the HD Activity Center provided will be for informational at convention will feature sessions in t’ai purposes only. chi, yoga, music therapy, speech, and A d vo c a c y – join HDSA for one of OT. Sessions are open to adults with HD two advocacy workshops (new to and youth affected by JHD. The HD advocacy and an advanced session). Activity Center will be open from 1:00 Learn about how HDSA is working – 5:30 p.m. Friday and Saturday. The center will to revise the guidelines used by the Social Security be supervised by a nurse educator and volunteers Administration to determine eligibility for disability. familiar with HD. HDSA would like to thank the convention program New for the 2008 convention: committee for their work in preparing this year’s Op e n i n g Ce re m o n y – join us as we welcome the program: Bruce Jennings, Chair; Samuel Franks, Amy University of Pittsburgh trumpet section as they her- Colcher, Betsy Gettig, Alex Andres, Peggy Polito. ald the opening of the HDSA convention! HDSA would also like to thank the University M e e t t h e HD S A B o a rd o f Tru s t e e s - on Friday of Pittsburgh for their help in identifying speakers, evening, from 5:30 to 6:30 p.m. convention atten- assisting in the HDSA Activity Center, and participat- dees are invited to an informal session with current ing in our Opening Ceremony. NYA Co nv enti o n New s arlier this month the fund please go to: at www.hdsa.org/nya. E Huntington’s Disease Society of America’s National Youth www.hdsa.org/nya. The HDSA NYA is also Membership is Free. Includes: One night stay Alliance announced the winners pleased to announce its at the Omni William Penn Hotel of the 2008 HDSA NYA inaugural NYA Day that will in Pittsburgh, PA, Fun activity Convention Scholarship. With a take place on Thursday, June on Wednesday Night (June 4th), record breaking 25 scholarships 5th at the Onmi William Penn workshops and a fun-filled day distributed this year, the NYA Hotel in Pittsburgh, PA. There on Thursday, June 5th. looks forward to raising addi- will be a full day of program- Deadline to register: May 1, tional funds at the National ming and activities specially 2008 Convention and throughout the designed for the National Youth For more information: year so that they build up the Alliance. This event is open to all please go to www.hdsa.org/nya fund for the following year. If registered members of the or contact Mynelly Perez at you are interested in making a National Youth Alliance (NYA). (212) 242-1968, ext. 214, donation to the scholarship Not an NYA member? Join today (firstname.lastname@example.org). HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A Co ngress P asses Geneti c I nf o rmati o n No ndi sc ri mi nati o n Ac t DSA is very happy to stalled in the Senate after it was fear led people to be less proactive H announce that on the after- noon of April 24 the U.S. Senate passed in the House in April of 2007 by a vote of 420-3. about managing their health and to opt out of participation in clinical voted 95-0 in favor of the Genetic Fortunately for all of us, that was trials and research studies that had Information Nondiscrimination Act, not the case. the potential to bring new thera- or GINA (S. 358). The legislation Over the past year, genetic pies for their disease. There were aims to protect people with or at disease organizations, medical pro- many instances where people who risk for a genetic disease from fessionals and Americans across did reveal their gene status or risk discrimination in the workplace or the country have pressured the for an inherited disease were by a health insurance provider. Senate to bring GINA to a vote. bypassed for promotions, fired This bill clearly protects people The result was an impressive from work, subjected to higher who participate in clinical trials amount of support for the bill and health insurance premiums or to from discrimination as well. momentum toward seeing it full termination of their benefits. We welcome this victory, as passed. At the time of the vote Some state laws provide limited it has been more than a dozen GINA had 46 sponsors. Everyone protection from such abuse, but years in the making. Thirteen who talked to their Congress the passage of GINA provides the years ago the first version of GINA members about the need for this first comprehensive, federal was introduced into the House by bill and encouraged their support protection from such discrimina- Louis Slaughter, a democratic had a hand in this victory. tion from which all Americans will Representative from NY. It has The passage of GINA will benefit. reappeared in every Congress greatly benefit people living with GINA still must be signed since. Despite broad support for or at risk for a genetic disease. into law by President Bush, who the bill, GINA was never passed in For years, in the absence of has stated his support for the bill. both the House and the Senate federal protections against genetic With overwhelmingly sup- during the same session. Many discrimination, people have lived in portive votes in both chambers of May is HD Awareness Month feared the bill was destined for that familiar fate in this Congress fear of suffering discrimination both in the workplace and from Congress, we anticipate GINA to sail through the signing ceremony, as well when action on GINA was their insurance providers. This which is expected soon. Support the HDSA National Youth Alliance Convention Scholarship during the month of May. From May 5th-May 19th place your bids on this hand numbered and signed lithograph by Anthony Bennedeto/Tony Bennett. Lithograph measures 20x16 inches and is framed. To bid please go to www.hdsa.org/NYA All proceeds from this auction will go to the HDSA NYA Scholarship Fund. HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A Great Events, Great People and Great Hope for the Future (continued from page 1) and recognizing that we all must work together to achieve the success we strive for. I am looking forward to the event that brings the greatest number of us together, our 23rd Annual Convention, in Pittsburgh, this June. It’s a time to catch up and look forward; to learn about the latest advances from our investigators, our clinicians and our local leaders. On Thursday, the day before the Convention opens, we have three special pre-conven- tion sessions: One for Chapter Leaders, where we unveil plans for the upcoming year and discuss issues of importance to all; A professional training session for our Social Workers, from the Chapters and the The St. Louis Chapter’s Left, Right, Center Dice The St. Louis Chapter’s Left, Right, Center Dice Centers of Excellence, who get to share best practices Tournament was a great success. It’s a “pre- Tournament was a great success. It’s a “pre- and plans for the coming year; and this year, for the event” fundraiser to support their wonderful John event” fundraiser to support their wonderful John first time, a NYA (National Youth Alliance) Day, where Turner Memorial Walk for Huntington's Disease. Turner Memorial Walk for Huntington's Disease. 50 of our future leaders will convene to discuss how they may increase their role in the Society, and how the activities of their organization can be expanded. I would like to specially thank Don Barr for his support scholarships to members who would otherwise not be and participation in the creation of this event. able to attend this important event. I know that many I am also very proud to announce that in mid- chapters are also sponsoring scholarships for NYA April the NYA was able to bestow 25 Convention members and chapter members, and I applaud your efforts, and your support of your fellow community Belle Plaine, MN Dinner attendees decide which members. of the many auction items they are going to bid We’ll be talking about several new programs on. at the Convention, including plans (already underway) to expand our Walk-a-thons and other grass roots initiatives that will give our chapters and affiliates more tools to help with their fundraising efforts. We are also developing several new research and care initiatives, as part of the HDSA Board of Trustees strategic planning process. These include programs to promote upcoming clinical trials, and the establishment of Standards of Care for people with Huntington’s Disease as a reference for our families and medical professionals as well. I hope to see each and every one of you in Pittsburgh. HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A H D S A Ari zo na R etreat f o r P eo pl e w i th H D Enters Ni nth Year Co ngratul ati o ns to Geo rge and M o ni ta Ti mmo ns f o r thei r V i si o n and S uppo rt DSA is pleased to announce the 9th annual the retreat for the past several years. H retreat for Huntington’s Disease. The two day If you need financial assistance or have any event will take place May 30 – June 1 in Prescott questions, please contact Kendall Aitchison at the AZ at the lovely Chapel Rock Conference Center HDSA Rocky Mountain Regional Office, 877-740- which is handicapped accessible. 4372 or email@example.com. Additional informa- Last year more than 134 family members tion and a registration form can be found on the including five affected by juvenile onset HD HDSA national web site at www.hdsa.org. attended the event. This Don’t miss this year’s retreat will feature “This whole weekend was a life opportunity to participate guest speakers Lawrence changing experience for me.” and meet other families Stern, M.D. from the -- 2007 Retreat Attendee dealing with Huntington’s University Medical Center Disease and juvenile HD in in Tucson AZ, Holly Shill, the peaceful and casual M.D. from the Cleo Roberts Center for Clinical setting located in the cool pines just 1-½ hours Research, Helen Brewer, care advisor for Juvenile north of Phoenix. HD in the UK, and Jody Goldstein from the HDSA For news of other HDSA retreats visit the Center of Excellence at the University of California national website. Alyson Krivanek (top left) and daughter Jacy (bottom left), San Diego. Jordan West (top middle) and daughter Stacy, (bottom right), The retreat begins at and Morgan Rott (Volunteer and daughter of Jeanne Rott with noon on Friday, May 30, Mesa vista Care Center in Boulder), attended the retreat last 2008. There will be a certified year. nurse in residence in the event of emergency. The retreat costs $150 per adult based on double occupancy and includes accommodations for two nights and 7 meals. Children under the age of 10 are free. Thanks to the continued generosity of George and Monita Timmons, an Arizona couple, HDSA has a limited number of scholarships available for people with HD and their caregivers. It should also be noted that a special thank you is owed to Phil Hardt, who has stepped down after managing the logistics and program for HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A C H A P T E R N E W S The A ri zo n a Affiliate of HDSA is having its 5th Annual form with a check made out to HDSA to: "Power to Cure" HD Lake Roosevelt Motorcycle Poker New England Regional Office– HDSA Run on May 10th! If you or any friends 6 Courthouse Lane, Unit 12 want to participate in our exciting ride please go to Chelmsford, MA 01824 http://www.firstgiving.com/power2curehd or contact (The website also instructs you on how to register Kendell Aitchison (kaitchison@hdsaorg). All of the online with a credit card) money raised will go to defray expenses for our 9th Annual Arizona Affiliate of the HDSA, Huntington's June 29, 2008 is the date for the Bikers for HD Retreat this year which will be May 29-June 1st. last 2008 Poker Run. Registration will be from 9AM to year. 11AM, and there will be a Pig Roast and Party at Knuckleheads Café in Moodus CT at 3PM. Join us On Saturday, May 31, 2008, from 5:30 to 9:30, the again for an event you won’t want to miss. Last year Huntington’s Disease -- A Family Story -- Benefit we had Kevin Hogan, news anchor of Channel 3, join Dinner will be held as a tribute to Fred Maher by the us in the ride. He will be back again this year. $20 for Maher Family at Bantam Fire Station in B a n t a m CT. It Bike & Rider, $10 per passenger, $10 for Pig roast will feature a delicious roast beef dinner as well as and party. Rain or Shine. Contact Sue McGann or go to many Chinese auction items. Tickets are $30.00. Go to www.hdsa-ct.org for more info and to volunteer. www.curehd2006.com for more information. The Co n n e c t i c u t affiliate is also planning a Sponsorships available. eam Hope Walk for a Cure on May 17th at Harkness Memorial State Park. Contact Sue McGann to volun- The W i s c o n s i n State Conference will be held in teer or for more info. Milwaukee on Saturday, August 23rd. The chapter would like to see as many people attend as possible The Washington University School of Medicine and the this year, especially youth! There will be a very nomi- HDSA S t . L o u i s Chapter are co-sponsoring this year’s nal fee (probably only about $5) per person, but it will regional HD Conference, to be held Saturday, June 21, be a great opportunity to learn more about the latest 2008 in Clayton, Missouri from 9-3. It is free of news in HD Research and Care, and an opportunity to charge, including lunch, and will feature the following make new contacts. Could you guys spread the word topics: and have youth (and adults) save the date? Living Positively with Chronic Illness HD 101 The N e w E n g l a n d Region is happy to announce the Driving Assessment return of the (2nd Annual )Boston Pub Crawl Financial Planning for Long Term Needs Crawl For a Cure, Saturday, June 14, 2008. The Caregiver Discussion Crawl Begins at 1:00 PM. Early Bird Registration (on- Pre-Symptomatic Testing: Issues, Timing, line or postmarked by May 19, 2008) is only $15.00. and Whether or Not to Test Regular Registration (on-line or postmarked by June Social Security Disability Benefits 1, 2008) is $20.00. To register at the door will cost Family Planning Options $25.00. You must be 21 or Older to register. Go Maintaining Independence at Home www.hdsa-ne.org and on the Home page find 2nd Research in HD Annual Boston Pub Crawl. Click on read more. Ask the Professional (Panel Discussion) Download Registration Form with Waiver. Our keynote speaker will be Missouri State Both the Registration Form and the Waiver MUST be Representative Dr. Charles Portwood.To register, filled out and signed to participate. Send the completed contact the HDSA St. Louis Chapter at 314-647-HDSA. HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A U P C O M I N G E V E N T S Th u rs d a y, M a y 1, 2008 S a t u rd a y, M a y 31, 2008 Thaw Fashion Show- Northwest Chapter 6:30 PM Team Hope Walk - Wisconsin Chapter 9:00 AM S a t u rd a y, M a y 3, 2008 HD Seminar- Upstate New York 8:00 AM S u n d a y, J u n e 1, 2008 Hoop-a-thon - Iowa Chapter 8:00 AM Meet the Sopranos - Greater New York Region Hoop-a-thon - NJ Chapter 9:00 AM 5:00 PM S u n d a y, M a y 4, 2008 r Fri d a y, J u n e 6, 2008 - S u n d a y, J u n e 8, 2008 Hunt for the Cure- Upper-Midwest 23rd Annual Convention Region 8:00 AM M o n d a y, J u n e 9, 2008 S a t u rd a y, M a y 10, 2008 Swinging for a Cure III - MA Chapter 7:30 AM Motorcycle Poker Run- Arizona Affiliate 8:00 AM S a t u rd a y, J u n e 14, 2008 S a t u rd a y, M a y 17, 2008 Walk-a-thon - Rhode Island Affiliate 10:00 AM Team Hope Walk- Connecticut Affiliate 9:00 AM Pub Crawl- MA Chapter 1:00 PM Hoop-a-thon - Indiana Chapter 9:30 AM S a t u rd a y, J u n e 21, 2008 S u n d a y, M a y 18, 2008 St. Louis Family Conference - 9:00 AM Team Hope Walk- Illinois Chapter 9:00 AM S a t u rd a y, J u n e 28, 2008 Tu e s d a y, M a y 20, 2008 Walk-a-thon - Vermont Affiliate 10:00 AM Gala Gone Wild- Rocky Mountain 6:00 PM Team Hope Walk- Wisconsin Chapter 9:00 AM Th u rs d a y, M a y 29, 2008 - S u n d a y, J u n e 1, 2008 Juvenile HD Retreat- Arizona Affiliate On April 23rd HDSA volunteers visited the Iowa State Senate. . In attendance (from l to r) were Maiga Krichau, Lisa Kirchau, HDSA Regional Development Director Leigh Peterson, Senator Thomas G. Courtney, Greta Peterson, Cindy Walker and Brian Walker. Senate Resolution 163 officially recognized May as HD Awareness Month and passed unanimously. HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A Huntington's Disease Society of America Win a BMW Help Us Drive Toward A Cure. Grand Prize: Sweepstakes Limited to only 2,500 tickets sold! 2008 BMW 328i Coupe Remember for every two tickets that you buy or sell for HDSA, you receive a third ticket FREE. or $25,000 CASH Tickets are $100 each (three for $200). Second Prize: Remember that all proceeds will benefit $5,000 CASH HDSA Research Programs. RSVP Immediately! Third Prize: Winners will be drawn at HDSA’s National $2,500 CASH Convention on June 7th in Pittsburgh, PA. Fourth Prize: Good Luck! $750 CASH Log on to www.hdsa.org to learn more about this year’s BMW Sweepstakes. Fifth Prize: $500 CASH For tickets and more information call 1-800-345-HDSA or e-mail firstname.lastname@example.org We would like to thank BMW of North America for helping to make this annual sweepstakes possible. Official Rules: No purchase obligation or test drive necessary. No portion of sweepstakes donation is tax-deductible. No responsibility is assumed for lost, late or non-delivered mail. Winners will be selected in a random drawing to be conducted on June 7, 2008. All prizes must be redeemed by September 30, 2008. Sweepstakes open only to licensed drivers who are 21 years of age or older and are residents of the United States (except Puerto Rico). Employees of the Huntington’s Disease Society of America and employees of BMW of North America, Inc., their retailers, advertising, print and promotion agencies and members of their immediate families are not eligible. Winners will be notified by phone and/or mail. Odds of winning are determined by the number of eligible entries received. Taxes are the sole responsibility of winners. Sweepstakes is subject to all federal, state and local laws and regulations and is void wherever prohibited by law. Entry and acceptance of prize offered constitutes permission to use winner’s name, photograph or other likeness for the purpose of promotion on behalf of the Huntington’s Disease Society of America, Inc., unless prohibited by law. HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A I N T H E N E W S Amy Harmon Awarded Pulitzer Prize for Series on Genetic Testing New York Times Reporter, Amy Harmon, was cited by the Pulitzer Prize Committee for her ongoing series on DNA and Genetic Testing. The Pulitzer Committee citation "for a distinguished example of explanatory reporting that illustrates a significant and complex subject, demonstrating mastery of the subject, lucid writing and clear presentation, ..." went on to explain that the award was given "for her striking examina- tion of the dilemmas and ethical issues that accompany DNA testing, using human stories to sharpen her reports." Amy spent over a year covering Katie's decision to undergo genetic testing, her reaction to the results, and Katie's plans for the future. The article generated great awareness of the issues of testing for the mutat- ed huntingtin gene, and how family members face the specter of Huntington's Disease. The story led to addi- tional national coverage on "The View," and in other print and video media. Barbara Boyle congratulated and thanked Amy on behalf of the entire HD community. If you would like to add your wishes and congratulations, please send an email to email@example.com. We will forward all these messages to Amy Harmon. NY Times article on Katie Moser by Amy Harmon (r) The Pacin’ Parson Walks for HDSA HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A R E S E A R C H D rugs w hi c h i nduc e auto phagy are added to the researc h pi pel i ne nducing autophagy as an alternate way to enhance the UPS in case the theory proves to be true. I the clearance of the HD protein is a very promising strategy for preventing or delaying the onset of Inducing autophagy as a treatment strategy Whether or not the UPS itself is impaired in Huntington's Disease. Huntington's Disease, there is good evidence to A new study by Professor David C. Rubinsztein suggest that it is not capable of handling the HD and colleagues suggests new drugs that induce protein and that its clearance is mediated by an autophagy for the research pipeline. Protein clearance, alternate method called autophagy. the UPS, and HD. Autophagy literally translates as 'self eating.' After a protein is made, it needs to be folded In this very old cellular house cleaning process (it's correctly to be able to do its work in the cell. found in organisms from yeast to mammals), This doesn't always happen and misfolded damaged parts of the cell, pathogens, and large proteins are targeted for degradation. The normal proteins are surrounded and consumed. huntingtin's protein is degraded Autophagy is even induced though the ubiquitin proteosome during times of starvation—less system (UPS). In the ubiquitin essential parts of the cell will be proteosome system, proteins consumed for nutrition. This may which are not needed or explain why caloric restriction which have misfolded are tagged initially helps the HD mice, for degradation by a small protein because it induces autophagy. called ubiquitin. The unwanted A potential treatment strategy protein is then moved into the would be to safely induce proteosome, a barrel like protein autophagy to enhance the complex, which breaks it down clearance of the HD protein. into amino acids that can then be The one known way to induce recycled. autophagy with a medication has One theory holds that the been through rapamycin, an old UPS is impaired in Huntington's Professor David C. Rubinsztein Professor David C. Rubinsztein antibiotic. Professor Rubinsztein Disease. If that is true, it could and his team have done extensive explain quite a bit about HD research on rapamycin and pathology because the UPS appears to play an impor- autophagy. tant role in many regulatory processes in the cell. However, researchers have been This theory is controversial, however. Some reluctant to bring rapamycin to clinical trials because labs using certain methods have found evidence to the drug would need to be taken over many years suggest that it is and others using different methods and it has side effects at the levels needed for it to have not. It is also possible that the conflicting find- be effective, one of which is suppressing the immune ings can be explained because the researchers were system. The search has been on for alternatives and looking at different points in the disease process (see in an exciting new study, Professor David Rubinsztein http://www.pubmedcentral.nih.gov/articlerender.fcgi?t and colleagues report that several drugs that are ool=pubmed&pubmedid=18047739 for a good already FDA approved for other purposes also review of the issues). stimulate autophagy. The UPS is an important line of investigation "By screening a number of drugs that have because of the potential for treatment and already been shown to be safe in humans, we have researchers are already looking into ways to target (continued on page 11) HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A D rugs w hi c h i nduc e auto phagy are added to the researc h pi pel i ne (continued from page 10) method of protein clearance isn’t working in HD. been able to identify some unexpected and very Inhibiting calpain induces autophagy. promising pathways involved in Huntington's," says One treatment possibility the research team Professor Rubinsztein, a Wellcome Trust Senior suggests researching further is a combination of one Clinical Fellow at the University of Cambridge. "In of the drugs identified in the study and rapamycin collaboration with Cahir O’Kane’s group in Cambridge since they work by different pathways. The idea is and Summit Plc, we have shown that these drugs can that a lower dose would be needed for each, alleviate the toxicity of the Huntington’s disease furthering reducing potential side effects. mutation in cell-based, fly and zebrafish models. The The next step is to test the drugs in mouse big question for us is whether they will do the same models. If one or more of the drugs identified are in humans." shown to be effective in an HD mouse model, the The research team screened 256 existing following step would be clinical trials with people. drugs in use for other Since both verapamil and medical conditions and "If we can find a safe, well tolerated drug, clonidine are FDA found several which then a person at risk could be placed on a approved for other pur- induce autophagy. Two drug regime to help prevent onset. It is poses and have a known drugs are of particular safety profile, the clinical interest, verapamil and much easier to stop something happening trial process would be clonidine. Verapamil is than having to treat it once it has started." shorter than the process prescribed for high blood — Professor Rubinsztein. of trying a newly devel- pressure and many oped drug. Although people take it for years. much work remains to be It is an L-type calcium done, the results so far channel antagonist and stimulates autophagy by are exciting. "We know the genetics of Huntington's reducing the influx of calcium into cells. Calcium disease and can predict the majority of people at handling is known to be a problem in HD. risk," says Professor Rubinsztein. "If we can find a Clonidine is prescribed for migraines. It is safe, well tolerated drug, then a person at risk could a regular of inositol trisphosphate (IP3) levels. It be placed on a drug regime to help prevent onset. It induces autophagy through the reduction of cAMP. is much easier to stop something happening than cAMP, which stands for cyclic adenosine monophos- having to treat it once it has started." phate, is a molecule which is responsible for a - Marsha L. Miller, Ph.D. number of functions in the cell, including regulating the passage of calcium through ion channels. cAMP References: is known to be elevated in HD. Janet E Davies, Sovan Sarkar, and David C Rubinsztein. Although these drugs work differently, they "The ubiquitin proteasome system in Huntington's disease both affect different parts of the same cyclical and the spinocerebellar ataxias." BMC Biochemistry 2007 Nov 22;8 Suppl 1:S2. pathway in which cAMP regulates IP3 levels which Andrea Williams, Sovan Sarkar, Paul Cuddon, Evangelia K increase calpain activity, which cleaves and then Ttofi, Shinji Saiki, Farah H Siddiqi, Luca Jahreiss, Angeleen activates Gs alpha, which in turn regulates cAMP Fleming, Dean Pask, Paul Goldsmith, Cahir J O'Kane, levels. Intervention at any point in the process was Rodrigo Andres Floto & David C Rubinsztein. “Novel tar- shown to be effective in inducing autophagy in the gets for Huntington's disease in an mTOR-independent study. Caplain is elevated in HD and appears to autophagy pathway.” Nature Chemical Biology published inhibit autophagy which may be why this alternate online 23 March 2008. HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A 2008 HDSA National C onvention Program Page 1 HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A 2008 HDSA National C onvention Program Page 2 HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A 2008 HDSA National C onvention Program Page 3 HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A 2008 HDSA National C onvention Program Page 4 HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A 2008 HDSA National C onvention Program Page 5 HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A 2008 HDSA National C onvention Program Page 6 HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A 2008 HDSA National C onvention Program Page 7 HELP FOR TODAY. HOPE FOR TOMORROW. H U N T I N G T O N ’ S D I S E A S E S O C I E T Y O F A M E R I C A 2008 HDSA National C onvention Program Page 8 Meet Your HDSA Regional Staff H D SA N e w E n g l a n d R e g i o n HELP FOR TODAY. HOPE FOR TOMORROW.
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