Marshaling Resources for Rare Diseases

At 5 years old, Sophie Rosenberg loves tea parties, playing hide and seek, and baking cookies with her dad. Three years ago, she joined a small group of patients with an ultra-rare genetic condition called multicentric carpotarsal osteolysis syndrome, or MCTO. Fewer than 60 cases of MCTO have been described in the medical literature since 2012. 

MCTO cripples the hands and feet and threatens the ability to walk. Those with the condition often have chronic kidney failure. The molecular pathways underlying the disease are not well understood. There is no treatment and no cure. 

Sophie’s diagnosis triggered a search for answers. A multidisciplinary team quickly assembled at Children’s Hospital Colorado, led by Nina Ma, MD, to explore every avenue of the disease. Sophie’s parents launched a nonprofit that has brought together experts and other families from around the world to change the future outlook for patients with MCTO. 

Sophie’s condition is rare, but stories like hers are not.

Defining Rare Diseases

Rare diseases affect 30 million people in this country, and over 300 million worldwide. Roughly 1 in 10 of us will develop a rare disease. Two-thirds of those impacted are children. 

In the U.S., rare diseases are defined as those affecting fewer than 200,000 people. Of the more than 10,000 identified, only 5% have an FDA-approved drug on the market. The collective public health challenge is massive, and new rare diseases are discovered every week.

For families like the Rosenbergs, the care journey can be costly and all-consuming. Many go without diagnosis for years, shuttling from specialist to specialist, enduring endless tests and procedures. Many more deal with misdiagnosis by providers faced with never-before-seen conditions. Still others lack access to specialty care entirely.

At CU Anschutz, we’re working to change this.

On the Map as a Rare Disease Destination

Across our campus, a small army of talent is working on a host of understudied, under-resourced diseases like MCTO – conditions that elude providers and evade known solutions.

From genetic sequencing and data analysis, to specialized clinical and research programs, to drug testing and development, CU Anschutz is a leading destination for rare disease expertise and care. 

We are one of only 31 National Organization for Rare Disorders (NORD) Rare Disease Centers of Excellence in the country, the first national network of institutions dedicated and equipped to advance progress in rare diseases. 

School of Medicine faculty Shawn McCandless, MD, and Matthew Taylor, MD, PhD, are leading our efforts as a newly minted NORD Center of Excellence, alongside Chief Research Informatics Officer Melissa Haendel, PhD. They are marshaling our expertise and resources, and combining forces with regional partners and the NORD network to expand our reach.

"The value of open science is nowhere more important than in the rare disease community.”
Melissa Haendel, PhD

Data Front & Center

At least 85% of rare diseases have genetic underpinnings. And, regardless of the cause, finding information from other patients poses a major challenge for people living with rare diseases and the researchers they work with. This puts data and accessible patient information front and center in the search for clues. 

Harmonizing patient data and making it widely available is an essential piece of the rare diseases puzzle. “Research and patient care will progress faster if data and knowledge are openly shared,” said Haendel. “The value of open science is nowhere more important than in the rare disease community.”

There is also substantial value in rare disease research for shedding light on the causes of common diseases like diabetes and asthma, and informing therapeutic developments for many disorders found to share similar genetic pathways. 

To this end, Haendel and team are designing methods to integrate rare disease data available on our campus and at our hospital partners. In partnership with the Colorado Clinical and Translational Sciences Institute (CCTSI) , they plan to link patient medical records from Children’s and UCHealth, so that valuable data is not lost as pediatric patients with rare conditions become adults. And through the Monarch Initiative, a decade-long effort led by Haendel’s lab, a database of the world's collective rare disease knowledge is helping standardize diagnosis around the globe.

An Inflection Point

McCandless and Taylor were the first to inventory rare disease offerings across our campus, which include hundreds of patient-centered care programs, basic and translational research efforts, and clinical trials focused on novel genetic and molecular therapies.

With advanced diagnostic labs, Children’s Hospital Colorado is offering sophisticated genetic testing for kids right here on campus. Add to that innovative screening technology at the Center for Drug Discovery, our renowned RNA Bioscience Initiative, and cell and gene therapeutic capabilities at the new Gates Institute, and we have an array of tools in action at a critical time in rare disease work.

For Taylor, being part of a national network has clear benefits. “We were immediately connected to 30 other NORD centers so we can share expertise and, by connecting patients and researchers, rapidly advance discovery,” he said. “The network also helps advance education for providers, and allows us to pioneer ways of bringing rare disease expertise to rural and underserved areas.

“We were immediately connected to 30 other NORD centers so we can share expertise.”
Matthew Taylor, MD, PhD
Matthew Taylor

Creating a Regional Rare Disease Hub

An incredible amount of work has led us to where we are today. So what’s next? 

McCandless, Taylor and Haendel are thinking big. The three are convening campus experts, hospital and community partners, patients and families next week on Rare Disease Day to cast a vision for a regional rare disease hub. 

“We’re creating tremendous knowledge about the genetic underpinnings of human disease right here in Colorado, right here on our campus,” said McCandless. “This is just the start of something amazing. Frankly, it’s the future of medicine.” 

“This is just the start of something amazing. Frankly, it’s the future of medicine.”
Shawn McCandless, MD
Shawn McCandless

Delivering Healing & Hope

Sophie Rosenberg’s parents and care team are racing a relentlessly ticking clock, knowing MCTO’s destructive effects will only deepen as she grows. The team is working hard to better understand the disease and slow its progression.

At CU Anschutz, we are in the business of delivering healing and hope. We will offer our level best to Sophie, her family and millions more like them in finding answers. And we are well on our way.

Next Tuesday, February 28, you can hear from experts and learn more about Sophie’s journey at Rare Disease Day Colorado events at CU Anschutz. You can also find more information here about efforts underway around the globe to speed progress in rare diseases. 


Don Elliman

Don Elliman




CU School of Dental Medicine 38th Annual Research Day

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Rare Disease Day at CU Anschutz



Every One is Unique: Photographs by Jason Persoff, MD

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