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Ehdn-Newsletter-Jul2017 July 2017 · Issue 31 EHDN EUROPEAN HUNTINGTON‘SNews DISEASE NETWORK € @EHDN_GRANTM Your grant manager has a Twitter account! Follow her for the latest news on EU funding and rare diseases. CONTENT Click the Page Out of the shadows: HDdennomore 1 HD Therapeutics 2017 4 Site certification scheme 5 Update: Clinical trials 6 Update: Enroll-HD 7 Update: Fellowship Exchange Programme 8 Photo: HDdennomore Pope Francis meets 15-year-old Brenda, Looking for a publication? 8 who has juvenile HD E-health for HD 9 Aim high: Lysle Turner recounts Photo: Pier Paolo Lisarelli his adventures in a good cause 10 Brenda and Anyervi, who Dates for your diary 11 comes from Lake Maracaibo www.ehdn.org Out of the shadows: Pope Francis Subscribe here to EHDN News: embraces the HD community Please go to the URL below and fill out the online form: Laura Spinney http://www.ehdn.org/news-events/ Please send us your comments, suggestions and overall feedback: “For too long the fear and difficulties that characterise the lives of Hunting- [email protected] ton’s disease families have led to misunderstanding,” Pope Francis told a 1,700-strong gathering of the global HD community at the Vatican on Imprint: Thursday 18 May. “Today we are here to tell ourselves and the world: Editorial Board of EHDN News: Laura Spinney, Editor (Paris, France) hidden no more.” Gabriele Stautner Artifox Communication Design (Ulm, Germany). Having delivered his message, the pontiff left the stage of the stunning Sala © 2017 European Huntington’s Disease Nervi and went to greet HD family members who had flown in from far Network, Oberer Eselsberg 45/1, 89081 Ulm, Germany, Chairman Jean-Marc Burgunder and wide to meet him, and to hear the name of their disease spoken for the The information contained in this newsletter is first time by a head of state. He took many of them in his arms, kissed them subject to the European HD Network Liability Disclaimer, which can be found at or made the sign of the cross on their foreheads. A large contingent of the www.euro-hd.net/html/disclaimer. privileged guests came from South America, where the prevalence of HD is –Please consult a doctor for medical advice– Except as otherwise noted, this work is among the highest in the world. They included families from Lake Maracaibo licensed under the Creative Commons in Venezuela, previous generations of which contributed to the research that Attribution-No Derivative Works 3.0 Unported License. made the identification of the HD gene possible in 1993. >>> POPE FRANCIS EHDN News 2 Laura Spinney July 2017 · Issue 31 Photo: Laura Spinney Photo: Pier Paolo Lisarelli Members of the HD community gather in St Peter’s Square Charles Sabine and family That breakthrough led to the development of a Cattaneo and CHDI’s Ignacio Muñoz-Sanjuán, and diagnostic test that has improved the lives of those at risk funded by Teva Pharmaceuticals and others. And though of HD significantly. It enables them to make informed the focus was on the South American families, the event reproductive choices, gain access to specialist treatment, was attended by HD patients and their relatives and take part in clinical research and plan for the future. carers from more than 20 countries. These possibilities are rarely available to the South “It’s almost miraculous to think that we have an audience American families, however, who often live in poverty with Pope Francis, that he’s shining a light on HD,” said and isolation, excluded from mainstream society by fear EHDN’s Jamie Levey, whose family is affected by the of a misunderstood and stigmatised disease. disease. “We heard how the families from Venezuela lack even the most basic human needs—food, work, It was to try to correct this injustice that Emmy Award- housing—so I also see how lucky we are in Europe and winning journalist and HD advocate Charles Sabine North America, to have access to quality care.” came up with the idea of bringing some of those families to Rome to meet the Pope, who heads a community of “You don’t often hear HD and social justice spoken nearly 1.3 billion Catholics worldwide. The initiative, together in the same sentence,” said Kenneth Serbin called HDdennomore, was organised with the help of an from San Diego, who blogs on HD as Gene Veritas. international team including Italian HD researcher Elena “With this Pope and this meeting we can now bring Photo kindly provided by Jamie Levey Photo: Laura Spinney Nancy Wexler (left) and HDdennomore co-organiser Jamie Levey and her mother (left) meet the pontiff Elena Cattaneo POPE FRANCIS EHDN News 3 Laura Spinney July 2017 · Issue 31 Photo: Laura Spinney those two things together.” Sabine told the gathering the care and support offered to those families, and that it was a day to celebrate “a Pope whose mercy persuade their neighbours to embrace rather than shun embraces the most vulnerable,” while Nancy Wexler— them. Within hours of the HDdennomore audience, who led the research involving the Venezuelan families, the outlook was looking promising. Social media was that culminated in the discovery of the location of the HD atwitter with news of the historic event, donations gene—described the event as “a moving and wonderful had been promised, and medics from around the tribute to the graceful, elegant families who deserve all world were mobilising themselves to provide the much of our empathy, compassion and support”. needed aid—with Italian doctors showing a particu- larly strong early response. This newsletter will keep Thirteen-year-old Anyervi, from an HD tabs on the reaction as it develops. family in Lake Maracaibo, was presented with a football and a number 11 shirt, as worn by his hero, Neymar of Football Club Barcelona. He then watched in amazement as the Brazilian star paid a personal tribute to him, via a video link. Brenda, who at 15 suffers from the juvenile form of the disease, had her dream come true when she was Photo: Laura Spinney serenaded by singing sensation Axel Photos: HDdennomore from her home country, Argentina. Axel then To find out more about HDdennomore, and watch a film accompanied her to present about the South American families made by Charles the Pope with a scroll Sabine and Brian Moore, please visit the website containing a pledge—repro- dedicated to the event: http://hddennomore.com duced in English, Spanish and Italian—that HD should be “HDdennomore”. Guests were entertained by music from American folk rock band Miner and British folk singer Sylvie Lewis, all of whose lives have been affected by HD. The organisers hope that the Pope’s words will translate into concrete benefits for the HD families in most need. Among other things, they hope his message will stimulate the world’s largest non-governmental healthcare provider—the Catholic Church—to improve HD THERAPEUTICS 2017 EHDN News 4 Michael Orth July 2017 · Issue 31 an unbiased approach based on bioinformatics, that his group has used to investigate how thousands of molecules—including RNA and proteins—interact in the context of the HD mutation. Darren Monckton (University of Glasgow) talked about how the CAG repeat length can differ significantly between cell types in a single individual. In striatal neurons, for example, the number of repeats HD Therapeutics 2017: it’s more can be more than a hundred times complex than you think that found in blood cells. Kevin Darren Monckton Weeks (University of North Carolina) presented the three-dimensional Michael Orth, Central Coordination structure of RNA and suggested that there might be more to it—functionally speaking—than just a “go-between” The 12th Annual HD Therapeutics Conference in the translation of DNA into protein. If the HTT gene highlighted biological complexity. More sophisticated contains a mutation, for example, his methods predict technology empowers the researchers who gathered in an additional protrusion from the RNA molecule that is St Julian’s, Malta from 24 to 27 April, but the insights it likely to affect its function—although it is not yet clear generates reveal that the effects of the HD mutation may how. be less straightforward than was thought. Despite all this newly revealed complexity, reducing The Genetic Modifiers of Huntington’s Disease (GeM-HD) levels of huntingtin is still regarded as a promising thera- consortium applies unbiased approaches at the genome peutic avenue, and it is encouraging that at each annual level, using samples donated by thousands of Registry HD Therapeutics meeting, new approaches for achieving and Enroll-HD participants, to this are unveiled. One, IONIS-HTTRx, is already in understand how the HD mutation clinical trials, and it is hoped that others coming down interacts with other biological the pipeline will soon be too. Preparing for such trials processes. As GeM-HD member therefore remains a pressing task. Lesley Jones (Cardiff University) reported, the consortium’s efforts One important element of that task is measuring the have highlighted a possible role for effects of huntingtin-lowering approaches. Good DNA quality control. Given that the progress has been made in the Lesley Jones HD mutation is a glitch in DNA, it accurate detection and quantification makes intuitive sense that the efficacy of the huntingtin protein in vivo, of repair mechanisms should influence how much reported Edward Wild (University damage and stress that glitch causes. College London). Biomarkers are also being explored that reflect the Biological complexity reveals itself beyond DNA too, in amount of damage done to the brain, the proteins that it encodes. Methods for probing that with promising results. It is possible complexity are improving all the that many outcome measures will Edward Wild time, and Matthias Mann (University need to be analysed simultaneously, of Copenhagen) described a method to capture all the effects of huntingtin-lowering treat- employing proteomics that his ments.
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