For a family navigating a rare genetic condition, the journey often feels lonely. There are medical appointments, therapies, school meetings, unfamiliar systems, and questions about what the future will hold. Even when families are surrounded by knowledgeable professionals, there is something uniquely powerful about connecting with someone who has been there, too. That connection is […]
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 […]
With a brand new PhD in geochemistry, I joined an oilfield service company, spending four years on special projects in the company’s 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 […]
On July 18, 2026, members of the Utah Rare Disease Advisory Council (RDAC) were honored to participate in Canyon Rim Cares, an annual day of service that brought together nonprofit organizations, volunteers, community leaders, and residents who share a commitment to strengthening our communities through service and connection. Throughout the event, RDAC members had the […]
We gave our youngest son the name of Andrew because it means “strong and manly.” When I was pregnant with him, a routine ultrasound showed that he would be born with clubbed feet. We knew then that he would need all of the strength he could get. Shortly after he was born, we took him […]
First new FDA-approved treatment option in nearly 20 years for families living with this rare lysosomal storage disease First FDA-approved medicine in emerging new class of biotherapeutics that leverage transferrin receptor to cross blood-brain barrier Denali’s first medicine enabled by its TransportVehicle™ platform designed to deliver biotherapeutics to whole body, including brain Rare Pediatric Disease […]
We hope to strengthen connections in the community through personal stories that describe barriers or challenges that a rare disease patient or family has encountered. We will evaluate how the barrier was cleared. If the challenge has not been resolved, we will explore what is needed to solve that problem. This quarter, we will describe […]
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 […]
Gina Szajnuk to Replace Dr. Lorenzo Botta as RDAC Chair Utah’s Rare Disease Advisory Council (RDAC), administered by BioUtah, in conjunction with the Utah Department of Health and Human Services, met on July 15 to conduct business and transition to a new leadership team. Stepping down as RDAC Chair after four years of exemplary service […]
Rare Disease Day raises awareness for rare diseases, highlighting progress in diagnosis and treatment while uniting patients, caregivers, and industry leaders. […]