Monarch PI Melissa Haendel talks about putting together the pieces of the rare disease puzzle

The Monarch Initiative and the Phenomics First Center of Excellence in Genomic Science (CEGS) bring together basic science, clinical research and rare disease patients to help untangle the causes and characteristics of rare diseases.

Rare diseases are a major public health issue, affecting an estimated 10% of the population worldwide, two-thirds of them children. Though the overall number of people suffering from rare diseases is large, each rare disease (of which there are estimated to be 10,000 or more, with a new one discovered every week) affects a relatively small number of patients. Melissa Haendel, PhD, a PI of the Monarch Initiative and the Phenomics First Center of Excellence in Genomic Science (CEGS), observes, “Finding diagnoses can take years and involve multiple datasets, resources and minds, with sometimes as many as 100 people behind one diagnosis.”

Dr. Haendel is the first-ever chief research informatics officer for the University of Colorado Anschutz Medical Campus, which was recently named a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD). She notes that to solve the puzzle of rare diseases, at least 80% of which have a genetic component, it is critical to bring together basic science, clinical research and the patients themselves. Dr. Haendel’s team works on technologies for data sharing, standardization and integration for biomedical research in general, but especially for rare diseases.

Read an interview with Dr. Haendel focusing on how she and her team tackle the problem of diagnosing rare diseases: https://news.cuanschutz.edu/news-stories/solving-the-puzzle-of-rare-diseases-through-data-and-teamwork