Melissa Haendel, PhD, has many goals as a prominent data scientist and the first-ever chief research informatics officer for the University of Colorado Anschutz Medical Campus. All research on the academic medical campus stands to benefit from her team, skilled in the emerging field of data science.
But one area, recognized nationally in February, stands out as a major focus for Haendel and her fellow information wizards: rare diseases. With an estimated 10,000-plus rare conditions worldwide affecting as many as 25 to 30 million Americans – many undiagnosed and most without treatments – the scope of the problem defies its “rare” designation.
The National Organization for Rare Disorders (NORD) recently named the University of Colorado Anschutz Medical Campus a Rare Disease Center of Excellence.
Of rare conditions, the vast majority (80%-plus) are known to have a genetic component, presenting complex scientific puzzles. “Finding diagnoses can take years and involve multiple datasets, resources and minds, with sometimes as many as 100 people behind one diagnosis,” said Haendel, also a professor of biochemistry and molecular genetics in the CU School of Medicine.
Meanwhile, patients – two-thirds of them children – suffer with the often-disabling and sometimes deadly disorders. Many of them with unresearched “orphan diseases” suffer alone.
Changing that is on the top of the to-do list for Haendel and her research group, TISLab. Her job, she said, involves solving the puzzles by bringing the players together as a synchronized team. Below, Haendel talks about how informatics and the rare condition world combine and how that team includes scientists, clinicians, patients and parents.
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