Phenotype with a Side of Genotype, Please: Patients, Parents and Priorities in Rare Genetic Disease

Publication date: Available online 1 February 2016 Source:Applied & Translational Genomics Author(s): Christy Collins 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.
Source: Applied and Translational Genomics - Category: Genetics & Stem Cells Source Type: research