Gratitude Day: Celebrating the Anniversary of the Discovery of the Huntingtin Gene

See a summary video of Factor-H and collaborators programs in Venezuela in 2023

On March 23, 1993, a landmark Cell article was published, describing that the mutation in the gene responsible for Huntington’s disease had been identified for the first time. This discovery was possible thanks to the collaboration between scientists from different countries -James F. Gusella and collaborators (The US-Venezuela collaborative research group, a team of 7 laboratories who teamed up to identify the gene responsible for the disease)- and the information provided by researcher & HD advocate Nancy Wexler, after 20 years of study of a very large family from Zulia State in Venezuela, whose support -together with other families from the USA- was crucial to the identification of the gene mutation that leads to HD.

Huntingtin (HTT) was the first gene causative for a genetic neurological disease, and whose molecular change could be mapped to a specific location on chromosome 4. For Ignacio Muñoz-Sanjuán, president of Factor-H, “Only the link created between scientists and the affected population could make possible a similar advance in the history of science. However, we have not reached the end of the road. It is time to thank everyone, but especially the very extensive family from Venezuela whose members still live in conditions of extreme poverty in towns surrounding the west side of Lake Maracaibo.”

Besides the identification of the causative gene, the study of the Venezuelan populations (more than 18,000 individuals were studied for a period of 20 years) advanced our understanding of the disease, its symptom evolution, the implementation of the first rating scales, the identification of individuals homozygotes for the mutation and the understanding that disease onset was variable and could be influenced by genetic modifiers. All of these contributions continue to fuel research and therapeutic development, including those targeting HTT and the genetic modifiers such as DNA repair targets.

Following an initiative from Jimmy Pollard, an HD advocate and a Board member of Factor-H, who shared it with Muñoz-Sanjuán & a small team that included Cristina Ferreira, Katrin Barth, and Asunción Martínez from Europe, set to work on what became the creation of Huntington’s Gratitude Day on March 23, which will include sharing images on social media with the hashtag #hdgratitudeday, but, also a request for donations specifically aimed to help the descendants of that Venezuelan kindred.

In 2024, we are seeking to raise US $25,000 to help implement educational programs for youth in Barranquitas, the Venezuelan town with the highest number of HD patients in the world.

JOIN IN THE CELEBRATIONS

The celebration consists of thanking the scientific community, patients and caregivers, making with their hands a Huntington’s H, which is transformed into a heart. The logo was conceived by Sofia Sena, daughter of Cristina Ferreira, an HD family member.

To participate in Huntington’s Gratitude Day, all you have to do is make the “symbol of the day” with your hands. It begins with the hands in parallel, palms facing each other to make the sticks of the “H” of Huntington’s, the ‘H’ of Hope. The thumbs are joined below the rest of the fingers and finally, the rest of the fingers are lowered except the indexes, to form a heart… then you take a picture, and you post it with the #hdgratitudeday Instagram tag.

It can be just you alone, or it can be you together with your family, with your team at work, just… make the “H-Hand gesture” and… give thanks to everybody for working together to make life easier for people and families affected as well.

On March 23, we will be hosting a live streaming event with the people from Venezuela, to mediate an interaction between the international HD community and the descendants of the original individuals who helped identify the cause of HD, a discovery that continues to fuel current research and therapeutic development.

Here is the link to the live streaming event

Venezuela – 9:00am (Eastern Time USA)
Pacific Time (USA) – 6:00am
Central Time (USA) / Colombia / Panama / Peru – 8:00am
Germany / Italy / Spain – 2:00pm
Argentina / Brazil – 10:00am
Costa Rica / Mexico – 7:00am
Great Britain – 1:00pm

Making H-hands

Last year, we received posts from many countries around the world, and from all types of individuals affected by HD, doctors caring for HD patients and scientists working to find treatments. We hope this year even more people will join us in a celebration of solidarity and gratitude. Together as a community we can achieve meaningful change – through medicine & science, but also through social transformation.