Hope, Cutting-Edge Science, In Addition To Poignant Moments At The Globe Congress On Huntington’S Disease

The outset such hard disk coming together held inwards a developing nation, concluding month’s World Congress on Huntington’s Disease (WCHD) non entirely highlighted the need for amend agreement of the illness inwards Latin America. It also revealed the growing global importance of the the bespeak for both amend aid everywhere in addition to the evolution of treatments.

Featuring activities for both researchers in addition to families, the 6th WCHD featured some twenty panels, a poster session, a satellite symposium, articulation meetings of the International Huntington Association (IHA) in addition to the Associação Brasil Huntington (ABH), entertaining even wrap-ups yesteryear HDBuzz.net editors Dr. Jeff Carroll in addition to Dr. Ed Wild, in addition to a moving presentation yesteryear the France-based hard disk functioning grouping Dingdingdong.

Like most hard disk conferences, the WCHD stressed advances inwards the search for treatments. The four-hour-long closing session included an update on clinical trials, a speak on deep encephalon stimulation in addition to HD, a presentation on cutting-edge RNA-interference-based (RNAi) therapies, in addition to an overview of the efforts to cut back or block the deleterious effects of the faulty poly peptide huntingtin inwards the brain.

“There is a lot of hope,” said Dr. Doug Macdonald, the manager of drug regain in addition to evolution for CHDI Management, Inc., which directs the multi-million-dollar endeavor to defeat hard disk yesteryear the CHDI Foundation, Inc., inwards his presentation. “There is a rich pipeline of these therapeutics advancing into the clinic. We receive got at in i trial delivery of huntingtin-lowering agents, the viral delivery of RNAi agents, in addition to viral delivery of zinc finger poly peptide agents.”

Dr. Macdonald provided a clinical-trial timeline for these potential drugs. The outset is probable to endure the huntingtin-lowering drug nether evolution at Isis Pharmaceuticals, Inc., in addition to Roche, scheduled to teach inwards a Phase I trial yesteryear the halt of 2014. Other projects may start out trials inwards the side yesteryear side few years, Dr. Macdonald added.

For a detailed explanation of these approaches in addition to to a greater extent than on timelines, sentry Dr. Macdonald’s speak inwards its entirety inwards the video below. See also a give-and-take of other types of trials in addition to full general coverage of the WCHD at www.HDBuzz.net.

You tin reckon 32 to a greater extent than chronologically ordered conference-related videos yesteryear visiting my 2013 World Congress on Huntington’s Disease album on Vimeo.

Modulating Huntingtin Levels to Treat Huntington's Disease: H5N1 Talk yesteryear Dr. Doug Macdonald from Gene Veritas on Vimeo.

From exciting scientific discipline to social consequences

The WCHD scientific presenters focused on a panoply of other hard disk themes, from exciting developments inwards basic scientific discipline to electrical flow medical treatments of symptoms to the social consequences of HD.

Dr. Elena Cattaneo of Italy presented the latest interrogation on the origins of the huntingtin gene.

“The normal cistron is a cistron that everyone has,” Dr. Cattaneo explained. “Everyone inwards the globe has that gene. At some point, nosotros started to scream back that, if nosotros receive got that gene, it way that cistron is important. So nearly 10 years agone my group, exactly also other groups, started looking for the portion of the normal gene. Of course, nosotros know that inwards the illness the mutant cistron causes the loss of the neurons. But inwards lodge to sympathize to a greater extent than nearly the mutant version, nosotros wanted to sympathize what the normal version was doing.”

Scientists discovered that the normal cistron is of import for “keeping the neurons salubrious in addition to endure in addition to working properly,” she said.

The huntingtin cistron was “born” inwards an ameba species 800 meg years ago, she continued. “This is the outset pluricellular organ, in addition to the huntingtin cistron is there. Pluricellular way that cells speak to each other to shape an organism…. I started thinking of huntingtin equally a cistron alongside a social function, because it brings cells together. So let’s assume that huntingtin is such a gene. Huntingtin is a good gene. It is non a bad gene.”

You tin sentry Dr. Cattaneo’s fascinating presentation inwards the video below.

The Role of the Huntingtin Gene inwards Huntington's Disease: H5N1 Presentation yesteryear Dr. Elena Cattaneo from Gene Veritas on Vimeo.

Other notable presentations included Portuguese Dr. Joaquim Ferreira’s detailed review of the various ways inwards which doctors process patients in addition to Dr. Anita Goh’s give-and-take of genetic discrimination in addition to HD.

The Latin American perspective

The WCHD brought a primal South American perspective on HD.

“For i thing, the participation of a number of Latin American neurologists, geneticists, in addition to position unit of measurement members offered some novel views of Huntington's illness inwards countries such equally Brazil, Peru, Argentina, in addition to Republic of Colombia – countries nosotros frequently practise non remove heed nearly at international hard disk meetings,” Dr. Alice Wexler, a historian of hard disk science, observed inwards an email subsequently the congress. “Because the extent of Huntington's inwards these countries is non good known, many of these researchers presented epidemiological in addition to demographic information that was novel to most hard disk researchers, along alongside clinical in addition to genetic data.”

Dr. Robert Weiser of Venezuela provided a reckon of hard disk inwards Maracaibo, Venezuela, the world’s largest known concentration of hard disk patients, spell Dr. Carlos Cosentino of Peru in addition to Dr. Laura Jardim of Brazil presented their unique interrogation on other aspects of hard disk inwards the region.

The WCHD highlighted a stark contrast betwixt the First World, where many hard disk patients tin consult alongside physicians inwards modern clinics, in addition to Latin America, where large pockets of HD-affected individuals teach no medical attending in addition to lack fifty-fifty such basics equally build clean drinking water.

Several participants noted that such weather condition must improve dramatically for these families to accept portion inwards the studies in addition to clinical trials crucial for finding treatments, including Enroll-HD, discussed below.

Rodrigo Osorio of Chile in addition to Alice Wexler’s sis Dr. Nancy Wexler of the USA gave moving testimony regarding some of the efforts inwards the part to improve the weather condition for patients, spell Dr. Ignacio Muñoz-Sanjuan of CHDI advocated for a lately launched charitable, medical, in addition to aid first serving Latin America called Factor H: Hope, Huntington’s, Humanity. In their interview alongside me inwards Spanish, activists Aleska González in addition to Vivian Puchi elaborated on the major challenges facing the hard disk community inwards their native Venezuela.

You tin sentry Muñoz-Sanjuan push clit Factor H inwards the video below.


Factor H: Hope, Huntington's, Humanity from Gene Veritas on Vimeo.

Riveting stories

The WCHD also gave vocalism to the riveting stories of hard disk patients, tested in addition to untested at-risk individuals, caregivers, in addition to position unit of measurement members.

I participated inwards a plenary session titled “Coping.” The session began alongside a troubling presentation yesteryear Dutch Ph.D. pupil Marlous Hubers on the theme of “suicidality inwards Huntington’s disease.”

“In general, suicide occurs 2 to viii times to a greater extent than frequently inwards Huntington’s illness than inwards the full general population,” Hubers stated. “In general, it’s said that 5.7 pct of all deaths inwards hard disk are due to suicide, which makes it the 3rd or quaternary crusade of decease inwards HD…. Screening for suicidal ideation is most of import inwards patients alongside a depressed mood, equally all studies constitute it equally an of import predictor.”

Shaken yesteryear Hubers’ incisive data, I started my ain presentation on coping, which followed hers, yesteryear observing that “Marlous’s extremely of import interrogation actually brings abode some issues for me. It brings upwards lots of memories of how I’ve been trying to grapple alongside living gene-positive for Huntington’s disease. I scream back she hitting the boom correct on the caput alongside honor to how cistron carriers need help, in addition to cistron carriers are form of on their own, non entirely alongside honor to suicide, exactly other aspects of the disease.”

Collecting myself, I proceeded alongside a detailed rundown of the many strategies I receive got adopted to avoid the onrush of symptoms.

You tin sentry my presentation inwards its entirety inwards the video below.

Coping alongside the Threat of Huntington's Disease: Gene Veritas speaks at the World Congress on HD from Gene Veritas on Vimeo.

In i of the most poignant moments of the WCHD, Dr. Carroll in addition to his married adult woman Megan revealed how they conceived their HD-free twins, a man child in addition to a girl, using PGD, preimplantation genetic diagnosis.

The theme was peculiarly striking for Latin Americans. Genetic testing in addition to genetic counseling are yet a rarity, in addition to it’s unclear how much people know nearly PGD or receive got used it. In addition, abortion is illegal throughout most of the region, and, at to the lowest degree inwards the Brazilian case, legislation against genetic discrimination is lacking.

Watch the Carrolls speak over PGD in addition to remove heed the audience give-and-take inwards the video below.

Preimplantation Embryo Selection: Avoiding the Transmission of Huntington's Disease from Gene Veritas on Vimeo.

From immature people, alongside love

The WCHD also had a strong youth presence. I interviewed England-based Matty Ellison, the 25-year-old founder of the Huntington’s Disease Youth Organization, nearly his father’s struggle against HD, his ain sense of testing positive for the cistron at the historic menses of 19, in addition to his international advocacy.

The most odd in addition to beautiful minute of the WCHD came alongside the functioning of Dingdingdong, a grouping of immature adult performers representing French hard disk families in addition to reflecting many themes relevant to immature people facing HD.

The grouping pose on From Huntingtonland alongside Love, a three-part presentation inwards English linguistic communication involving a brusque play, a video, in addition to a soundless trip the calorie-free fantastic functioning yesteryear chogeographer in addition to dancer Anne Collod, inwards which she mimics the chorea, or involuntary, dance-like movements, suffered yesteryear most hard disk patients.

You tin sentry Collod inwards the video below.


A Portrait inwards Motion of D., a Man Suffering from Huntington's Disease from Gene Veritas on Vimeo.

A costly event

For me, i drawback of the WCHD was the high toll of the venue, the Sheraton Rio Hotel in addition to Resort, a luxury-class facility on the beach of Leblon, i of the world’s most expensive neighborhoods. My room toll nearly $400 per night, the most expensive room I receive got always paid for, in addition to out of attain for vast numbers of Latin American families. (And I couldn’t fifty-fifty percentage that expensive room alongside my wife, since she was dorsum abode alongside our daughter.)

Along alongside several position unit of measurement advocates in addition to others, I noted how the exclusive facility, equally good equally the scheduling of the trial the same calendar week equally the Rock inwards Rio music festival, had made it extremely hard for depression in addition to fifty-fifty middle-income families – in addition to maybe also local interrogation students – to accept part.

As an experienced Brazil hand, I thought the organizers mightiness receive got chosen less expensive, to a greater extent than accessible facilities. In my opinion, belongings the coming together inwards less-glamorous exactly to a greater extent than convenient São Paulo – where ABH headquarters are located – would receive got been a skilful option.

Dozens of Brazilians attended the WCHD, exactly entirely a handful of people came from other countries, fifty-fifty from the aforementioned globe leader inwards hard disk patients, Venezuela.

Nevertheless, equally I wrote in my previous article, overall I thought the WCHD ran really smoothly, in addition to families in addition to IHA made of import novel connections.

A boost to Enroll-HD

Following the WCHD, CHDI ran a seminar to prepare medical professionals from Argentina, Brazil, Colombia, in addition to Venezuela how to evaluate hard disk patients in addition to collect medical information on them for Enroll-HD, the lately inaugurated global hard disk observational study in addition to database.

Enroll-HD aims to improve tools to assess the disease, position in addition to characterize biomarkers (signs of the disease) necessary for touchstone the effectiveness of treatments, recruit participants for other studies in addition to trials, in addition to improve clinical aid everywhere.

Featuring Enroll-HD on i of its panels, the WCHD inwards Rio provided an of import minute for publicizing the programme in addition to attracting participants.

(I volition study on Enroll-HD at the WCHD inwards a futurity article.)

Continuing to foster international connections – and greater position unit of measurement participation inwards futurity conferences at all levels – volition increase the chances of success of Enroll-HD in addition to ultimately the defeat of HD.

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