The event, held at the teaching rooms 2 and 3 of the Doctor Balmis University General Hospital, aims to present the latest research findings on Huntington's disease from ISABIAL. Huntington's disease is an inherited, disabling, and fatal disorder causing involuntary movements, mental deterioration, and ultimately death, stemming from a mutation in the gene for the 'huntingtin' protein.
Luis Miguel Valor, lead researcher of the Genetics, Epigenetics, and Transcription in Neuropathologies group at ISABIAL, explained that the conference will communicate the institute's research lines, which currently focus on studying blood biomarkers and retinal analysis to monitor disease progression more accessibly.
This initiative, aimed at patients, families, and interested individuals, strengthens the collaboration between ISABIAL and ABAE. Rocío Pérez, lead researcher of the Neurodegeneration and Extracellular Vesicles group at ISABIAL, emphasizes the relationship's importance for firsthand understanding of the daily challenges faced by patients and their families, ensuring these are considered in research projects.
The program includes a practical first aid workshop to equip families with tools for critical situations, such as choking and falls, which are significant risks for patients due to motor system impairment, as explained by Eva Calabuig, president of ABAE.
The event will conclude with a session for dialogue and experience sharing, fostering a support network among families facing the same reality and highlighting research as the main hope to halt the disease's progression at its root.
The province of Alicante shows a particular concentration of Huntington's disease cases, with a prevalence of 3.75 cases per 100,000 inhabitants, significantly higher than the average in the Valencian Community (1.97 cases per 100,000 inhabitants), according to an epidemiological study.
