OUR SPEAKERS 2019
We’re pleased to welcome so many wonderful speakers to Disorder: the Rare Disease Film Festival.
Times and dates are still TBD and will be added here soon.
In addition to the speakers listed below we will have many of our filmmakers in attendance and they will hold a brief Q&A session after the slate with their film.
How can I get tickets to see the speakers or panel discussions?
You can’t. Instead any ticket holder for any of our screening slates will be admitted to any of the speaker sessions on a first come first seated basis.
is a lawyer turned mom turned comedian. She's one in a million, primarily because of her ultra-rare genetic disorder. Inspired by Ali Wong, Kathleen Madigan and needing to laugh about the side effects of her chronic illness, Alice took to the stage and let it all out. She can be seen at Flappers, the Ice House, JR's Comedy Club, the Sacramento Comedy Festival, and her audiologist's office getting her hearing aids adjusted.
is a regular contributor to the New York Post. Her work has been featured on This American Life and Morning Edition. Her book The Family Gene, covers the rare gene in her family (affecting just 14 people) and the deadly illness to which it leads.
is CEO of Grace Science, LLC and President of Grace Science Foundation. After many years as a technology entrepreneur (CardSpring, Howcast, & Zazzle) and in public service ((Department of Defense & The White House), Matt became a rare disease drug developer after his daughter Grace was born with NGLY1 Deficiency. The Grace Science Foundation has since funded over 25 research teams accounting for over 250 scientists in 6 countries.
Charlene Son Rigby
is a Founding Board Member of the STXBP1 Foundation, and also Chief Business Officer at Fabric Genomics. Charlene's unplanned connection between her personal life and profession has helped push forward the search for a cure for her daughter and kids like her, and given her work deeper meaning.
Dr. Helen Kim
is Professor and Director of the Center for Cerebrovascular Research in the Department of Anesthesia and Perioperative Care at UCSF. She is a genetic epidemiologist who has focused her career on identifying predictors of outcomes in patients with brain vascular malformations. These brain malformations can occur in isolation or as part of several rare vascular disorders. She is the principal investigator of several NIH-funded clinical research studies and leads the multicenter Brain Vascular Malformation Consortium, with the goal of bringing potential therapies to clinical trial.
Rosalyn and Justin Porcano
founded Save Sight Now when their daughter Lia was diagnosed with Usher Syndrome Type 1B which results in deafness at birth, serious balance issues and nultimately leads to blindness. Our mission is to help fund medical research toward attainable cures and treatments that will prevent and restore vision loss.
“I have dedicated my young career to the advancement of translational research for rare diseases. I have a rare congenital skin condition called ichthyosis which is maintained by the daily application of creams and lotions. My dream is to study the underlying genetic causality of my disease, develop novel therapeutics for its treatment, and ultimately find its cure.”
Angela Ramirez Holmes
is the founder and president of Cal Rare, a non-profit coalition of rare disease stakeholders dedicated to improving the lives of rare disease patients in California. She started her advocacy in rare diseases in 2013 when her then 8 year old son Andrew was diagnosed with a rare brain condition, an arteriovenous malformation or AVM. In 2018, Angela was the recipient of the Rare Voice Award for State Advocacy from the EveryLife Foundation.
Motivated by her son Tyler's rare disease and a desire to improve life for her entire family, August earned a nursing degree and is currently training to become a family nurse practitioner.
LORENZO BOTTO, MD
is director of the Penelope Program at University of Utah Health and leads the university’s site of the national Undiagnosed Disease Network, both dedicated to finding causes and improving the lives of people with undiagnosed diseases.
LYNN JORDE, PHD
Mark and Kathie Miller Presidential Endowed Chair Department of Human Genetics Director, Utah Genome Project
A world-renowned human geneticist, Lynn Jorde leads University of Utah Health’s Utah Genome Project, a large-scale initiative to discover causes of, and treatments for, inherited conditions. He has published more than 250 scientific articles.
Ari and Stacy Goldberg
are the parents of filmmaker, Rina Goldberg, who died from Mitochondrial disease just after her 15th birthday. Some of her last words to her mom was “Promise to take care of my film.” They now travel the country with Rina’s film, “The Magic Bracelet”. Raising awareness about Mito, spreading Rina’s message “Love life, Dream Big, Be Positive” and how to live a limitless life in the face of the daily medical challenges of a rare life limiting disease.