UMHD meeting in scientific literature
Albert R. La Spada, ''Repeat meeting’s repeat performance'' (1999), Elsevier
Laspada, 2nd UMHD meeting
Richard R. Sinden, ''Origins of instability'' (2001), Nature
Sinden, 3rd UMHD Meeting
Waringa et al., ''Dynamic Mutations on the Move in Banff'' (2004), Nature Genetics
Wieringaetal, 4th UMHD Meeting
What is the International Conference on Unstable Microsatellites & Human Disease?

This series of meetings were initiated as the brainchild of Drs. Jack Griffith, Robert D. Wells and David L. Nelson only six years after the first unstable trinucleotide repeats were found to be disease-causing mutations of Kennedys disease, fragile X mental retardation, and myotonic dystrophy. At the time of the first meeting it had become apparent that repeat instability was likely to be a very important form of mutation. This meeting has occurred about every two years since 1997 and the organizers torch has been passed between Investigators from different countries. The 1st round of the Conference was held in Santa Fe (1997), the 2nd in North Carolina (1999), and the 3rd was in The Netherlands (2001). The 4th iteration was in the scenic Rocky Mountains of Banff, Canada (2004). The 5th iteration was in beautiful and historical city of Granada, Spain (2006). The 6th iteration was in Guanacaste, Costa Rica (2009), and the 7th iteration in Ste. Odile, France (2012). The 8th iteration was hosted in 2015, again in Costa Rica in the tropical rain forest. The 9th iteration will be hosted at Capri, Italy, just off shore of the powerful Mount Vesuvius. Drs. Christopher Pearson, Laura Ranum, and Maria Giuseppina Miano are the organizers of the 9th meeting. The attendance of this meeting has increased steadily and we expect 100-150 scientists to attend.

Scientific Focus of the Meeting

The meeting will continue to focus upon the most recent advances in understanding repeat instability of nucleic acids and proteins and their relationship to human diseases, inherited and other. Since 1991, when this type of mutation was first associated with disease there have been at least 40 different hereditary diseases found to be caused by this form of mutation as well as numerous diseases that are associated with genetic instabilities. Furthermore, genome-wide and locus- or gene-specific repeat instability is now a well-documented hallmark of both carcinogenesis and aging. Repeat instability is used not only for genetic mapping but also for forensic and evolutionary sciences. Each of these important areas will also be encompassed in the meeting focus. Over the years, with advanced technologies and gained information, the research attention has progressively moved closer to therapeutic treatment avenues.

Goals of the Meeting

The goals of the meeting will continue to ensure that the breadths of attention to the various modes of pathogenesis (toxic-loss-of-function, toxic-gain-of-function RNA, toxic-gain-of-function-protein, toxic-RAN-translation), for each of the >40 diseases. This meeting has a proven track record of rapidly sharing new information, stimulating scientific exchange, collaborations and has served as an excellent venue for training of young scientists (graduate students, post-doctoral fellows and PIs). The multi-disciplinary nature of the research field requires the gathering of clinicians, diagnosticians, pathologists, geneticists and molecular biologists. The increasing advances towards therapeutic avenues has also increased the participation and collaborative interaction of pharma with academic labs at the meeting. This is the premier meeting on repeat mutations and diseases, works that have been presented as podium or poster presentations have been published in the best journals, including Science, Nature, Nature Genetics, Cell, Molecular Cell, Neuron, American Journal of Human Genetics, Human Molecular Genetics, Molecular and Cellular Biology, Nucleic Acids Research, and Journal of Biological Chemistry.


The Agenda of our planned meeting will generally follow that of previous meetings. As with previous iterations of this conference we plan on inviting 20-25 Speakers, and producing a comprehensive meeting book containing abstracts for each seminar and poster that will be presented. In addition, as with previous meetings, a percentage of the platform seminars will be selected from submitted abstracts with a focus upon submissions by trainees (graduate students and post-doctoral fellows). Furthermore, we plan to have two days allowing for the presentation of 30 posters. As with previous iterations, a series of prizes for best presentations by trainees and fellows will be awarded.

Meeting Topics

• New Repeat-diseases
• Amyotrophic Lateral Sclerosis
• Frontotemporal Dementia
• Spinocerebellar Ataxias
• Fragile Sites
• Repeat Instability
• Loss-of-Function Diseases
• Toxic-proteins/Polyamino acids
• RAN-Translation
• Epigenetics and Repeats
• Toxic RNAs/microRNAs/bidirectional transcription
• New arenas: unexpected repeat proteins
• Therapeutic advances