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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

Encouraging the families of people affected by Huntington’s disease to donate, post-mortem, their brain and other organs so as to advance research into the disease and its possible treatments is the goal of the Huntington’s Disease Society of America (HDSA) and the CHDI Foundation partnership. Called HD Legacy, the…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Measuring the seeding activity of mutant huntingtin (mHTT) protein — its ability to trigger protein aggregation — could be an early biomarker of Huntington’s disease with the potential for monitoring disease onset and progression, according to preclinical findings in mouse and fly models. The study, “mHTT Seeding…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

Obsessive-compulsive and perseverative behaviors occur frequently among people with Huntington’s disease, particularly as the disorder progresses, a review analysis shows. Researchers say differentiating between these two behaviors — which many family members find highly problematic to handle — may be beneficial for managing and treating symptoms, and supporting caregivers.

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Most people at risk for Huntington’s decide not to undergo genetic testing for the disease due to the lack of effective treatment — and because they can’t unlearn the knowledge that they may have the neurodegenerative disorder, a study shows. Researchers say choosing not to know if one is…

Mutations in the huntingtin gene may alter the interactions between the huntingtin protein and a protein called Rac1 in the early stages of Huntington’s disease, which may affect the way nerve cells communicate, a study has found. The study, “Rac1 Activity Is Modulated by…

Mutant huntingtin, the protein involved in Huntington’s disease, travels from one neuron to another using a network of tunnels built by a protein called Rhes, a study finds. The study, “Rhes travels from cell to cell and transports Huntington disease protein via TNT-like protrusion,” was published in the…