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Since George Huntington’s seminal report in 1872 describing a hereditary condition characterized by jerky movements and cognitive decline, the journey of the Huntington’s disease (HD) community has been marked by numerous challenges. For decades, families faced stigma and mistreatment due to misunderstanding of the condition. However, in 1993, a significant breakthrough occurred when researchers successfully mapped the gene responsible for HD, confirming the disease-causing variation. This milestone brought newfound understanding and hope to individuals and families affected by HD.
This nearly two-decade-long research endeavor was made possible by the participation of large families, notably the two Venezuelan communities near Lake Maracaibo, who played a pivotal role in Nancy Wexler’s groundbreaking attempt to map the gene to chromosome 4 in 1983. Their contribution, alongside the involvement of multiple families across Europe who donated blood samples and family histories, paved the way for identifying the gene responsible for Huntington’s Disease. Through a meticulous process of comparing unaffected gene testing results to those of affected individuals, researchers concluded that an increase in trinucleotide repeats in the IT15 gene, later known as the HTT gene, was responsible for the combination of symptoms characteristic of Huntington’s Disease as described by George Huntington.
Nancy Wexler – The scientist who made it possible
This journey underscores the paramount importance of research in the HD community, shaping understanding, driving progress, and offering hope for a brighter future. Today, as we continue this journey, it’s more important than ever for the community to stay informed about the latest research developments. We understand that navigating scientific articles can be challenging, which is why we are excited to introduce you to HDBuzz. This online blog is a user-friendly resource freely available to everyone interested in learning about the latest discoveries in HD research.
We believe that by sharing knowledge and resources, we can empower ourselves to stay informed and engaged in the ongoing efforts to find better treatments and ultimately a cure for HD. Together, we can make a difference in the fight against Huntington’s disease.