Current Projects
Truly in a race against time, parents of children with rare genetic diseases are joining together to change the way scientific research is conducted. Citizen Scientists, a new documentary by award-winning filmmakers Maren Grainger-Monsen, M.D., and Nicole Newnham, explores this movement, and major issues affecting people living with rare genetic diseases, through the intimate lens of one unforgettable mother and her quest to find a cure. 
Citizen Scientists follows Donna Appell, whose twenty-one year old daughter Ashley was diagnosed as a toddler with Hermansky Pudlak Syndrome (HPS), a rare syndrome associated with Albinism whose symptoms include blindness, a bleeding disorder, colitis, and in some cases a pulmonary fibrosis from which patients succumb in their twenties or thirties. Donnas was told that less than thirty people had been diagnosed with HPS in the United States, and no one knew where to find them. Realizing that no one was going to help cure “just one child,” Donna set about forming an advocacy group and harnessed the internet to gather as many patients as possible.
Armed with a few patients, Donna cold-called the NIH, and begged them to research her daughter’s rare disease. It was the beginning of a long-term effort to study Hermansky Pudlak 
Syndrome. Today, Donna and the NIH team are in phase three of a clinical trial for a drug that could slow the progression of her daughter’s slowly worsening lung fibrosis. And she has 700 HPS patients in her database. But there are challenges: her daughter has been excluded from the trial because of another medication. And recruiting patients to fill the triall is extremely difficult. Will Donna be able to fill the trial and get the medication approved for her daughter in time to save her life?
Citizen Scientists takes viewers into the world of what it is like to live with a rare genetic disease, visiting Donna’s annual conference, which unites HPS patients and their families with the doctors studying their disease – and what it is like to be part of a clinical trial. We’ll also show how patient advocates are joining together to create more power – following Donna and several young people with Albinism and HPS as they lobby congress on Capitol Hill along with members of other rare disease groups.
The film is designed to provoke debate and discussion of some of the major ethical and social issues inherent in this revolution: how do advocacy leaders like Donna Appell balance between the sometimes dueling roles of parent and scientist? What conflicts are raised for researchers who develop an emotional relationship with their subjects? How is research study design impacted by input from patients? What is the patient’s/family’s experience of being diagnosed and living with a rare genetic disorder? Of living through genetic testing? Of being involved in a clinical trial?
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