“Gratitude Day is a way to honor the collaboration of HD families with clinicians and scientists, which started with the efforts to identify the Huntington’s disease gene in the 1980s, and that continues to these days through various efforts around the world to find treatments for the disease”
March 23rd is the day when the original publication describing the mutation that causes HD was first reported, marking a historical day for science and for all the affected families. This publication culminated a two decade project to identify the cause of the disease. Many families contributed towards this milestone, but it was the contribution of thousands of Venezuelans who enabled scientists to reach their goal – everything changed after this discovery.
Today, therapeutic programs targeting the Huntingtin gene are in clinical stages and are showing signs of positive effects.
Please join us to mark Gratitude Day around the world and to honor the many people who partnered with the research community to advance our quest for effective treatments!
You can post your support images using the hashtag #HDGratitudeDay
This year’s proceeds will support our educational programs for youth – including workshops for teenagers & basic education for children at-risk for HD
March 18 – Kids Lab Day – a meeting with Christian Neri’s laboratory in France
March 19 – Candle Light Vigil in Barranquitas, honoring those who have passed
March 20 – Pediatric Medical Day in San Luis
March 21 – Candle Light Vigil in San Luis; an HD photography exhibit from Vladimir Marcano
March 23 – Live streaming activities from San Luis, Maracaibo, Venezuela
Do you want to know what life is like for families affected by HD in Venezuela?
Do you want to know what Factor-H does to help these families?
Meet the patients, caregivers, and the kids Factor-H supports, and also our team there….
To join the Zoom click on hand image on the left
Access Code: 230325
Webinar-ID: 842 1059 0895
click here for Phone Dial
World times below!
Zulia, Venezuela: 12:00 PM (UTC-4)
Los Angeles, USA: 9:00 AM (UTC-7) – Daylight Saving Time
Mexico City, Mexico: 11:00 AM (UTC-5) – Daylight Saving Time
New York, USA: 12:00 PM (UTC-4) – Daylight Saving Time
São Paulo, Brazil: 1:00 PM (UTC-3)
London, UK: 4:00 PM (UTC+0)
Berlin, Germany: 5:00 PM (UTC+1)
Mumbai, India: 9:30 PM (UTC+5:30)
Hong Kong, China: 12:00 AM the next day (UTC+8)
Tokyo, Japan: 1:00 AM the next day (UTC+9)
Sydney, Australia: 3:00 AM the next day (UTC+11)
We hope to see you there!
See video messages from Drs. Leslie Thompson, Gill Bates and Alice Wexler about their experience visiting the HD families in Venezuela
On November 07, 2024, Factor-H will host a fundraising event in Los Angeles to support our ongoing programs in Latin America.
Factor-H is proud to present the US premiere for two documentary films about Huntington’s disease – The Light (The story of the Informal Caregivers for Huntington’s patients in Barranquitas, Venezuela, by Gindel Delgado) and The Present (Dimitri Poffe’s incredible bicycle trip through Latin America to raise awareness about HD, by Timothy Dhalleine).
Ignacio Muñoz-Sanjuán, president of Factor-H, will host Dr. Roger Cachope and Marina González de Kauffman from Venezuela in an evening of solidarity and cinema.
Following a brief introduction to Factor-H and the state of the HD therapeutics, we will show the two short documentary films, followed by a Q&A and a social mixer. We will also host an art exhibit with photographs by Venezuelan artist Vladimir Marcano.
The event will take place at The Writer’s Guild Theatre in Beverly Hills from 6-10pm
Address: 135 S Doheny Dr, Beverly Hills, CA 90211.
Please note this is a change in venue location!
You can get tickets via Eventbrite below.
The Light is a documentary film by Caracas-based filmmaker and journalist Gindel Delgado, who has been an active collaborator of Factor-H since 2017, when he assisted during he filming of the documentary Dancing at the Vatican. Ignacio and Gindel formed a close friendship during this time. Gindel has since become an essential member of the Factor-H team.
In The Light, Gindel tells the story of two informal caregivers’ in Barranquitas, Venezuela, the community with the highest incidence of Huntington’s disease in the world.
Emotional, poignant, raw and full of hope in the power of human relationships, this documentary captures the daily lives of two family members as they struggle to care for their affected relatives and neighbours.
Timothy Dhalleine captures the immense beauty and solitude of the Latin American landscape in The Present, a film about the extraordinary journey of Dimitri Poffé, who changes his life after being tested positive for Huntington’s disease.
Dimitri decided to give up his job in Paris and bicycle from Mexico to the Southern-most region of Argentina, an 18-month, 12,000 mile journey. During the trip, Dimitri visits HD families, scientists and patient associations throughout the continent.
Breathtaking beauty that brings home the message: ‘live in the present’, and ‘no regrets’.
Dimitri is a friend of Factor-H and met the Factor-H Colombia team along his journey.
The importance of the contributions of the Venezuelan families to HD research and disease understanding cannot be minimized, even with the passing of time. The journey of these families in advancing our scientific and medical work started in the 1970s, after the presentation of Dr. Avila-Girón in 1972 in Ohio, USA, of the presence of many families afflicted with a disease that looked like Huntington’s, to commemorate the 100th anniversary of the George Huntington’s paper describing the choreic symptoms of HD.
At this meeting, a 30′ video of the families from the San Luis neighborhood in Maracaibo, prompted the interest of Nancy Wexler and colleagues to visit Venezuela. Hence it began a collaboration of more than 20 years that culminated in the identification of the HD gene and the mutation that causes the disease. But the study of the largest HD pedigree in the world revealed much more than the gene. And it continues to deliver insights even today.
For example, the study of the first individuals homozygotes for the mutated gene was possible due to the intermarrying of community members from these towns, and yielded credence to the idea that the mutation was working as a toxic gain-of-function, still the leading hypothesis of HD. The first rating scales that expanded beyond motoric features of the disease were tried and tested over years in this population, ensuring concordance across multiple raters, and the optimization of scales that captured non-motor features of the disease. The influence of the CAG repeat length on age-of-onset was also identified by studying these large families, as was the fact that CAG length did not account for all the variation observed, initiating the search was possible genetic modifiers of the disease. The ability to follow-up year after year with affected and at-risk individuals, living in single location, and sharing a similar environment, was instrumental in understanding the clinical and epidemiological aspects of the disease.
There were samples donated for research beyond the extraction of DNA. Skin, blood, semen, and brain specimens laid the groundwork for many discoveries in the field. And finally, the Venezuela experience was momentous for those clinicians and scientists interested in HD. As I can personally attest to, a visit to Maracaibo changes your perspective on your work, on the scientific promise of useful therapies, and instills a motivation to persist that is so necessary for the scientific enterprise to succeed. An entire generation of HD professionals, the leaders of today’s research, were shaped by Venezuela.
This is why we recognize March 23 as Gratitude Day – a day to remember the Venezuelan contributions to science, and a day to commemorate the immense cooperation between families and scientists who have helped so much in shaping this field.
For this year, we asked two clinicians who participated in the early visits to Maracaibo to speak about their experiences. Below are their stories.
Dr. Maria Ramos is a clinical geneticist from Spain; she traveled to Venezuela in 1983 and for the next 18 years. In this video, she shares images of the time. In Spanish with English subtitles.
Dr. Bernhard Landwehrmeyer is a scientist and neurologist from Germany, founder of EHDN; he shares his appreciation for the Venezuelan families and the impact this had in his career. In English.
Gratitude Day has become an international symbol of gratitude and solidarity. Gratitude for the collaboration of families in research and clinical trials, which enables the field to move forward. The Venezuelan experience shaped this spirit of close cooperation between families, health professionals and scientists, a spirit that persists to this day.
For Gratitude Day we asked individuals & companies to come together and post pictures with the Gratitude day sign (The H Hands – H for humanity, hope and Huntington’s), the symbol of Factor-H.
Below you will find a collection of images from around the world. We are in this together, and the project that began 30+ years ago, will certainly lead to treatments that will alter the course of the disease.
Follow them on Instagram #HDgratitudeday
Finally, thank you to all of you who have donated to help Factor-H assist the families in Venezuela. As the only organization working with these families, your donations are essential to enable out work.
Thank you to Uniqure for sponsoring the 2024 Gratitude Day
Meanwhile, in Venezuela, the Factor-H and Habitat LUZ team gathered local families for a celebration of Gratitude Day. This date has now become a celebration of their community, honoring the lives of those lost to the disease. Rather than shame and sorrow, we want to bring a spirit of celebration to this community who has given so much to science. A very special moment was a candle light vigil that took place at night to remember the relatives who suffered from HD. Among the photographs of Vladimir Marcano, people gathered in solidarity and spoke about their individual histories, histories that ought not to be forgotten, but celebrated.
See a video of the Candle Night here
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