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...

3 New rare diseases added to NC Newborn Screening panel

A provision in the NC budget announced this week adds three tests to the state's newborn screening panel. The new screenings will test for Pompe disease, Mucopolysaccharidosis type 1 (MDS 1), and X-linked Adrenoleukodystropy (X-ALD). read more...

News
3 New rare diseases added to NC Newborn Screening panel
A provision in the NC budget announced this week adds three tests to the state's newborn screening panel. The new screenings will test for Pompe disease, Mucopolysaccharidosis type 1 (MDS 1), and X-linked Adrenoleukodystropy (X-ALD).
NC Rep. Gregory Murphy Announces Expansion of Newborn Screening Tests to include more rare disease disorders
The expanded newborn screen tests will include screening for Pompe disease, Mucopolysaccharidosis type 1 (MDS 1), and X-linked AdrenolevKodystropy (X-ALD). NC Representative Gregory Murphy, MD will make a press announcement Wed. May 30th @ 9:30 in the General Assembly Press Room. All patient advocates are invited to attend and state with him at the microphone.
UNC Pediatrics Delivers Investigational Genome Editing Therapy in Clinical Trial for the Rare Hunter Syndrome
First gene therapy performed by Dr. Joseph Muenzer and the UNC Clinical Translational and Research Center.
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
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.
After Gene Therapy: Hannah’s Journey Continues
Hannah's progress since receiving her first gene therapy treatment for giant axonal neuropathy (GAN) 9 months ago.
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.
President Signs 21st Century Cures Medical Innovation Bill Into Law
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.
5th Annual Rare Voice Award
A Celebration to honor advocates who give rare disease patients a voice in state and federal policy was held on Wednesday night, November 16th in Washington DC.
UNC, NC State join national $11-million data project to tackle rare diseases
The Rare Disease Observatory will integrate and make readily available large data sets researchers need to study rare diseases and improve the lives of millions of people in the United States.
Hannah Has Her Gene Therapy for GAN Just in Time
Just in time, before she lost too much function to be able to respond to treatment, Hannah Sames received her gene therapy treatment for GAN (giant axonal neuropathy) in the clinical trial her family helped fund.
What 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.
More…

NC Rare Disease Advisory Council meetings

Date:  Thursday, June 28, 2018
Time: 1:00 - 3:00 pm
Place: NC DHHS, Conference Room 264, Adams Building, Raleigh, NC.  Dix Campus Map [pdf]

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

Announcement of Expanded Newborn Screening Tests for Rare Disease

NC Representatives Dobson, Dollar, Lewis, Lambeth, Senator Hise are hosting a press conference to announce the expansion of newborn screening tests to include Pompe disease, Mucopolysaccharidosis type 1 (MDS 1), and X-linked AdrenolevKodystropy (X-ALD).

Wednesday, May 30th @ 9:30 in the General Assembly Press Room.

Patient advocates are invited to attend and stand with them at the microphone.

Upcoming Event: Focus group for rare disease patients and caregivers

Rare Disease Day Logo no TXTThe NC Rare Disease Coalition invites you to participate in a focus group for rare disease patients and caregivers. During the meeting, participants will provide feedback and insight to the developers of the Rare Disease InfoHub, a web-based portal providing resources and information for the rare disease community.  Patient/caregiver input is very important to ensuring the site is valuable to those it is meant to serve.   Learn more...

When: July 24 @ 6:30 - 8:30 PM
Where:  NC Central University campus at BRITE in Bldg. 13 on E. Lawson Street, Durham, NC

Upcoming Event: See Rare Run Virtual 5K Run/Walk


5K Virtual Rare Run Walk logoHelp raise awareness for these patients and their families by participating in our virtual 5K run/walk.

Your support will benefit the National Organization for Rare Disorders/Undiagnosed Diseases Network Patient Assistance Program. This program provides financial assistance to rare disease patients and their families who have exhausted all alternatives in their journey to receiving a diagnosis. Registration required.  Learn more..

When: Oct 5-7, 2018
Where: Anywhere!

Running Toward Rare - Laura King Edwards - TEDxCharlotte

Duke Doctor Pioneers Rare Disease Experimental Therapy

Duke Doctor Pioneers Rare Disease Experimental Therapy

One out of every 20 people will live with a rare disease at some point in their lifetime. Many go undiagnosed, and for most, there is not a cure.

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...