Primary Children’s Gene Kids is a $9 million program to provide a genomic diagnosis to every child with a possible genetic condition. Our goal is to integrate diagnosis, discovery, and treatment to reach children and families who may benefit, regardless of their location or insurance, by ensuring access to whole genome sequencing (WGS). Gene Kids […]
The Stakeholders, Partners, and Communications Workgroup has been focused on expanding awareness of the Utah Rare Disease Advisory Council (RDAC), strengthening relationships with key stakeholders, and increasing engagement with both policymakers and the rare disease community. One of our primary goals has been to help more individuals and organizations understand who the Utah RDAC […]
With a brand new PhD in geochemistry, I joined an oilfield service company, spending four years on special projects in the company research lab in Connecticut and two years as a geochemist advisor to the operations part of the company in Houston and Dallas. When oilfield drilling activity in the US plummeted, I was laid […]
Recursion is a Salt Lake City–based company using AI and scientific innovation to discover and develop new medicines for people living with diseases that often have few or no treatment options, including rare diseases. Around the world, an estimated 300 million people are affected by a rare disease, yet only about 5% of rare diseases […]
Each quarter, we highlight a council member, an advocate or policy maker, an investigator, or clinical care provider. This quarter we are featuring one of the Utah RDAC members, Dr. Lorenzo Botto. “My career has taken me across several countries and disciplines, shaped by the mentors, patients, and families I have learned from along the […]