Welcome to the NC Rare Disease Network

Creation of NC Rare Disease Advisory Council Provides Unique Opportunities

“The creation of the Rare Disease Advisory Council represents a unique opportunity for the UNC School of Medicine and others in North Carolina to serve the people of the state and beyond," said Bruce Cairns, director of the North Carolina Jaycee Burn Center at UNC-Chapel Hill. "We strongly believe a partnership between advocacy groups including Taylor's Tale, academic medical centers, the National Institutes of Health and others keenly interested in the diagnosis and treatment of rare diseases can be a model for the nation as we tackle some of the most challenging diseases affecting our citizens. We are grateful that the General Assembly has passed the bill and that Governor McCrory has now signed it. We are ready to get to work."  read more...

Promising Results with New Gene Therapy Approach for Treating Inherited Neurodegenerative Diseases

A new gene therapy approach designed to replace the enzyme that is deficient in patients with Tay-Sachs and Sandhoff diseases, inherited neurodegenerative disorders, successfully delivered the therapeutic gene to the brains of treated mice, restored enzyme function, and extended survival by about 2.5-fold. The implications of these promising results for developing similar gene therapies for use in humans and for targeting additional brain disorders are reported in two articles published in the journal, Human Gene Therapy. read more...

UNC, NC State join national $11-million data project to tackle rare diseases

The National Science Foundation recently awarded $11 million to Big Data Spokes projects and associated planning activities, including those at North Carolina State University and the University of North Carolina at Chapel Hill to explore the feasibility of building a large data system – the Rare Disease Observatory (RDO) – that will integrate high-value data sets on rare diseases that are currently separate.  read more...

President Signs 21st Century Cures Medical Innovation Bill Into Law

Today, President Obama signed into law the 21st Century Cures Act, a game-changing bill for medical innovation. The bill includes many provisions that will improve the discovery, development, and delivery of orphan therapies for rare disease patients. read more...

Governor Cooper Proclaims Feb. 28, 2017 Rare Disease Day in North Carolina

Governor Roy Cooper, recognizing that thousands of North Carolina citizens suffer from rare diseases, signed a proclamation today declaring that "the State of North Carolina joins patients and caregivers, medical professionals, researchers, companies developing orphan products to treat people with rare diseases, and others" in observing Rare Disease Day on February 28, 2017.  

View the full proclamation here

Determined Parents are Moving the Needle on Gene Therapy

Families of patients are starting advocacy groups, raising money for research, and founding biotech companies to advance cures for rare diseases. read more...

After Gene Therapy: Hannah’s Journey Continues

Read the DNA Science Blog article on Hannah's progress since receiving her first gene therapy treatment for giant axonal neuropathy (GAN) 9 months ago. read more...

8-year-old battling illness signs with UNC cross country team

The University of North Carolina at Chapel Hill cross country team drafted its youngest member Tuesday, 8-year-old Yash Krishnan. For Krishnan it was a dream come true and an opportunity to take his mind off his illness.  read more...

Warned he would die by age 10, Ryan Dant just graduated college

Ryan Dant was born with mucopolysaccharidosis I, or MPS I,  a rare disease that was expected to end his life by the age of ten.  But on Saturday, May 13, Ryan graduated from the University of Louisville thanks to two clinical trials that helped Ryan and others to live longer.  read more...

more news...

NC Rare Disease Advisory Council meetings

Date:  Thursday, August 31, 2017
Time: 1:00 -3:00 pm
Place: Suite 50, 6340 Quadrangle Drive, Chapel Hill

For more information, contact Tara J. Britt, at tjbritt@unc.edu
Upcoming Events: “Rarefied” Screening

Periodic Tables: “Rarefied” Documentary Screening Followed by Panel Discussion

Tuesday, May 23, 2017 @ 7:00 PM - Doors open at 6:30 PM

MotorCo, 723 Rigsbee Ave, Durham, NC 27701 | Admission is $5 which supports the program.


For decades, families with undiagnosed genetic diseases went from specialist to specialist as they searched in vain for answers. Now, thanks to DNA sequencing, it’s possible to read the more than 20,000 genes in the human genome at once and to begin to find those answers.

But what do they mean? How do they affect the way these families care for their children (and each other) and imagine their futures? Do they inspire hope or despair?

Rarefied chronicles the difficult, unexpected and moving journeys of ten such families and explores both the power and limits of genetic knowledge.

View trailer and learn more...

Data Science Roundtable: Applying Artificial Intelligence to the Diagnosis of Rare Diseases

Data Science Roundtable:  Applying Artificial Intelligence to the Diagnosis of Rare DiseasesClick to view on youtube.


Every Life logo

Ask Your Legislators to Co-Sponsor the OPEN ACT to Repurpose Drugs for Rare Disease Patients 

Visit the Every Life Foundation for Rare Diseases Open Act action page for an easy way to contact your legislators about this important legislation.

Kyle Bryant & The ATAXIAN Movie Viewing

Kyle Bryant with audienceWhat an inspiration to meet Kyle Bryant and see The Ataxian movie this week. Unable to walk due to a neuromuscular disorder, Friedreich’s Ataxia, Kyle and team of friends attempt the most difficult and grueling bicycle race in the world. read more...


 Every Life logo Call on your legislators
to advance


As a reminder, 21st Century Cures contains new funding for NIH and FDA, along with vital incentives to bring new treatments to patients including the OPEN ACT and an extension of the Rare Pediatric Disease Priority Review Voucher program.

Rare Disease Facts & Statistics.
  • Approximately 7,000 rare disorders are known to exist and new ones are discovered each year
  • One in 10 Americans is living with a rare disease
  • Rare disease impacts more people than cancer and HIV combined
  • In North Carolina, over a million people suffer with a rare disease
  • Children represent the vast majority of those afflicted with rare disease