Festival of Genomics Boston - October 2017, Boston Convention Center


Rare Disease Film Festival

Disorder: The Rare Disease Film Festival 2017

We welcome our friends at Disorder to host a session including a talk from Patricia Weltin, CEO and Founder of the Rare Disease United Foundation, showing of three inspiring short films and a discussion about the value and impact of short films as rare disease advocacy.


Featuring three short films, a presentation by Patricia Weltin and a panel discussion on the Live Lounge.

The films



"Imagine" 10 minutes. Directed & Produced by 17yrs old Carl Mason,

"IMAGINE" follows the story of Millie, a little girl who dreams of being a dancer, yet suffers from Niemann Pick Type C; an extremely rare, incurable disease which causes neurological decline and dementia.

The young film-maker secured collaborative support from over 20 television and film professionals in the UK

Menkes Disease: Finding Help & Hope

Menkes Disease: Finding Help & Hope

"Menkes Disease: Finding Help & Hope" 5 minutes. Directed by Daniel DeFabio.

Academy Award nominee Mary McDonnell narrates this look at a rare fatal genetic disorder called Menkes Disease. It prevents boys from metabolizing copper. Boys who get treatment in the first ten days of life can have long and relatively normally lives. If the disease is not detected and treated that early their lives are much shorter and far from normal.

Tess is not Alone

Tess is not Alone

"Tess is not Alone" 8 minutes. Directed by Bo Bigelow.

Tess seemed to be the only one in the world with her rare mutation and symptoms, until her dad posted them to social media and got connected with the researcher for the USP7 gene mutation and the seven other known patients in the world.

How Living Rare Creates Citizen Scientists and Why Their Input is Invaluable to Stakeholders

  • The journey that led me to becoming a citizen scientist
  • What I have learned through research
  • Finding treatments
  • Other citizen scientist killing it in the rare disease space

Patricia Weltin, CEO and Founder, Rare Disease United Foundation

Film making as Rare Disease Advocacy"

Panel discussion:

Carl Mason, Bo Bigelow, Daniel DeFabio



Sponsors & Exhibitors

Founding Partners

Illumina, Roche and Thermo Fisher Scientific

Strategic Partners

Agilent Technologies, Beckman Coulter Life Sciences, SevenBridges and Twist Bioscience


With thanks to our supporters



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