title: Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease.
abstract: As the parent and caregiver of a child with an ultra-rare disease and advocate for others with the same condition, I discuss the importance of phenotyping in rare disease research. I emphasize the need for more clinical geneticists, deeper and more intentional integration of clinical genetics in complex patient care, and a greater appreciation of patients and families as an informational resource.
authors.affiliation: M-CM Network, Chatham, NY, United States.
authors.forename: Christy
authors.initials: C
authors.lastname: Collins