SALT LAKE CITY — There are approximately 10,000 known rare diseases, and while they aren’t heard of very often, the number of people living with them is quite large.

According to the Utah Rare Disease Advisory Council, approximately 344,000 Utahns have a rare condition or disorder. In the United States alone, 25 million to 30 million Americans are affected by a rare disease. Nearly 95% of rare diseases have no treatment.

Information and resources are nearly as rare as the diseases themselves. Delayed diagnosis, misdiagnosis, lack of treatment options, high medical care costs and limited access to medical specialists are just some of the obstacles people face.

On Tuesday, community leaders in Utah will host a free event from 5-7 p.m. at Recursion Headquarters, 41 S. Rio Grande St. in Salt Lake City, to raise awareness of rare and undiagnosed diseases and the struggle patients and their families face. The event will also provide resources and support to those affected by a rare disease while highlighting progress in diagnosis and treatments. In addition, Gov. Spencer Cox will declare Feb. 28, 2023, Rare Disease Day in Utah. Although registration for the event is now closed, a virtual link can be found at rareundiagnosed.org.

“The Beehive State is buzzing with activity to address the needs of patients with rare diseases. From the use of artificial intelligence to cutting-edge genomics, the state is fertile ground for innovation to drive needed advances,” said Charlene Son Rigby, CEO of Global Genes. “By joining with patient organizations, drug developers and researchers in Utah to mark Rare Disease Day, we hope to raise awareness about these conditions and the collaborative efforts essential to improving the lives of rare disease patients and their families.”

Several rare disease advocates will be recognized at the event. They include 14-year-old Orem resident Kingston Atwater whose older sister was diagnosed with a rare genetic disorder when he was just a young boy. In support of his sister, Kingston has been involved in many awareness events and is currently serving on the advisory board for the RARE and Undiagnosed Network, or RUN.

“There is an urgency for diagnoses, treatment and cures for the rare disease community,” said Gina Zanik, co-founder and executive director of RUN and vice chair of the Utah Rare Disease Advisory Council, or RDAC. “The diagnostic odyssey for someone with a rare disease takes on average seven years. We must shorten the length of the diagnostic journey and come together to support patients and their families throughout the duration.”

A disease is considered to be rare if it affects fewer than 200,000 people. Most of the diseases are genetic in nature, according to Recursion Pharmaceuticals, a Salt Lake-based biotech company.

“Recursion was founded to reinvent the drug development and discovery process with an early focus on rare diseases,” said Chris Gibson, co-founder and CEO of Recursion. “The status quo is failing to meet the needs of millions of patients with rare diseases and we are harnessing technologies like artificial intelligence to accelerate the process of bringing new therapies to patients who need them.”

Among those attending the Rare Disease Day event will be experts from RUN, Aware of Angels, Global Genes, RARE-X, BioHive, Recursion, Metrodora Institute, ARUP, BioUtah, the University of Utah and the RDAC.

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