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...

more news...

Two Disabled Dudes Rare Disease Day Podcast Series

Two Disabled Dudes

Two Disabled Dudes Podcast has produced a series of interviews focused on Rare Disease Day which is coming up on February 28.

The four episodes include Interviewes with: Nicole Bioce of Global Genes (Feb. 15); Max Bronstein of the EveryLife Foundation for Rare Diseases (Feb 20); Paul Melmeyer of the National Organization for Rare Disorders (Feb 22: ); and Ron Bartek of the Friedreich's Ataxia Research Alliance (Feb 27).

The Rare Disease Day series starts with an overview of their episodes for the month. It's just over 20 minutes long and you can listen on their website: http://twodisableddudes.com/2017/02/13/005-rare-disease-day-special-guests/ and you can also find it on iTunes.

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.

i'll Push You on Today Show Friday April 14!

I'll push you today show announcementJustin and Patrick of i'll Push You will be on the Today Show Friday, April 14 in the last segment of an upcoming feature called "Soul Searching" which is running all week around faith and inspirational stories. It will air sometime in the morning. So, set your DVR's to record! Once they have a link to share, they will send it out after the air date. They will be showing some footage from their documentary, too!

NC Rare Disease Advisory Council meetings

Date:  March 9, 2017
Time:  9:00 a.m
Place: Suite 50, 6340 Quadrangle Drive, Chapel Hill

For more information, contact Tara J. Britt, at tjbritt@unc.edu

CALL TO ACTION

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...

CALL TO ACTION

 Every Life logo Call on your legislators
to advance

#CuresNOW!

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

read more...