Disorder: The Rare Disease Film Festival Returns to Boston

This September, The Rare Disease Film Festival returned to Boston for its second year. The event featured twelve films and trailers for future projects. Film topics were remarkably diverse, ranging from the charismatic account of an Epidermolysis Bullosa patient (This is Michelle) to a Hollywood production written by a young girl with mitochondrial disease (The Magic Bracelet).

A major theme of the event was how storytelling can give those struggling with a rare disease a powerful voice. Nicole Boice, founder of Global Genes, said that “storytelling can influence, impact, and inspire people to take action”.

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Pathway To Solving A Mystery

I have been a Genetics Analyst with the Rare Genomics Institute for over a year. The work that analysts like myself do is challenging, but we are aware of the impact and significance of our findings to the affected families. One of the services (https://www.raregenomics.org/rg-patient-research-services/) that we provide is to help identify mutated genes that are causing the patient’s symptoms, and if possible give a name to the disease. Our cases are typically undiagnosed where sequencing data is available.

Genome sequencing of the patient, siblings, and parents is carried out externally by one of our several partners, or the patient brings the sequence from previous analysis so we can re-interpret it. Whole Exome Sequence (WES) refers to sequencing only the DNA that encodes proteins, as opposed to whole genome sequencing (WGS), which includes non-protein encoding sequencing.  WGS and WES are preferred technologies over the more standard microarrays for diagnostic purposes. We currently do our analysis with WES exclusively and are planning to incorporate WGS in the near future.1

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