North Carolina Department of Health and Human Services publishes 2022 Annual Newborn Screening Report

March 1, 2022 – The North Carolina Department of Health and Human Services has published its Annual Newborn Screening Report for 2022. The report is available on the NCDHHS website at

Wells Fargo Duke Energy Center in Charlotte will “Light Up for Rare”

February 28, 2022 – The Wells Fargo Duke Energy Center in Charlotte will “Light Up for Rare” on 2.28 in recognition of Rare Disease Day. Advocates in the Charlotte area are encouraged to post photos to social media with the following hashtags to raise awareness:  #LightUpforRare  #RareDiseaseDay

Rare Disease Day at NIH 2022

February 28, 2022 – Rare Disease Day® (link is external) takes place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. Each year, NCATS and the NIH Clinical Center sponsor Rare Disease Day at NIH as part of this global observance. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments.

Invest in Cures, Durham NC

February 24, 2022 – Invest in Cures meeting at the North Carolina Biotechnology Center explores how disease foundations and social venture funds are accelerating the commercialization of early-stage technologies and therapies. LaunchBio and the North Carolina Biotech Center welcome researchers, advocates and investment professionals from leading disease foundations that have successfully partnered with local startups focused on oncology and rare disease.

Julia Vitarello – N=1 Collaborative

February 17, 2022 – Sometime after Mila started her treatment, Dr. Tim Yu and I began dreaming of building a hub to establish the path for and scale individualized medicines like milasen. What started as a simple slide in a presentation on Mila’s story has finally become a reality. After spending the last six months getting up and running, the N=1 Collaborative is official. With participation from 150 top researchers and physicians at 70 academic institutions and companies spanning the globe, we are on a mission to make individualized medicines safe and rapidly accessible to patients worldwide.

NCATS – Rare Diseases are not Rare

February 17, 2022 – Because rare diseases are not rare, their treatments shouldn’t be either, but research on each separately is difficult, expensive, and slow.  In her latest message, NCATS Acting Director Joni Rutter talks about two key areas where we need to move the needle to bring more treatments for rare diseases more quickly.

Read the full message to learn more.

Do you want to join the conversation about rare diseases? Here’s how:

  • Participate in our rare diseases Twitter chat on Feb. 24, 2–3 p.m. EST. Ask questions and share your rare disease stories and resources using #NIHchat. Dr. Rutter and other experts will answer questions.
  • Join us virtually on Feb. 28, 10 a.m.–6 p.m. EST, for Rare Disease Day at NIH. The event will feature panel discussions, personal stories, exhibits and scientific posters.

LEXEO Therapeutics Announces FDA Clearance of Investigational New Drug Application for LX2006, an AAV-based Gene Therapy Candidate for Friedreich’s Ataxia Cardiomyopathy

February 16, 2022 – LEXEO Therapeutics (LEXEO), a clinical-stage gene therapy company advancing a diverse pipeline of adeno-associated virus (AAV)-based gene therapy candidates for genetically defined cardiovascular and central nervous system diseases, today announced that the U.S. Food and Drug Administration (FDA) has cleared its Investigational New Drug (IND) application for LX2006. LX2006 is an AAV-based gene therapy candidate designed to intravenously deliver a functional frataxin gene, for the treatment of Friedreich’s ataxia cardiomyopathy (FA cardiomyopathy). LEXEO plans to initiate this open-label, dose-escalation Phase 1/2 clinical trial of LX2006 in patients with FA cardiomyopathy in the middle of 2022.

North Carolina State Laboratory of Public Health Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD)

February 14, 2022 – The North Carolina Newborn Screening Program has begun screening all newborn screening specimens submitted to the North Carolina State Laboratory of Public Health (NCSLPH) for X-Linked Adrenoleukodystrophy (X-ALD).  Newborn screening for X-ALD will be integrated into the standard newborn screening panel and results will be included on all NCSLPH Newborn Screening reports issued starting February 15, 2022.

February 11, 2022 – The National MPS Society announces that the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) has voted to recommend mucopolysaccharidosis type II (MPS II, Hunter Syndrome) to the Recommended Uniform Screening Panel (RUSP) for newborn screening. This will be provided to the Secretary of the U.S. Department of Health and Human Services. Conditions listed on the RUSP are provided to individual states for recommendation for adoption for newborn screening.

American Society of Gene + Cell Therapy – Monthly Lunch and Learn Webinars

February 10, 2022 – The ASGCT Patient Education Program is expanding its offerings this year by hosting a series of free, virtual Lunch & Learn events. During these Lunch & Learns, attendees will hear from ASGCT member experts who will educate on a variety of gene therapy topics and answer audience questions. The series topics were designed by the Patient Outreach Committee and are intended to be viewed chronologically for the audience to continue building their knowledge from each session. These sessions will also be recorded and available for viewing on demand following each live event.

February 24Gene Therapy 101

March 31 – Intro to Viral Vectors

April 28 – How Are AAV Vectors Made?

May 15  – Join us for What Patients Can Expect in a Gene Therapy Clinical Trial, a Pre-Meeting Workshop preceding the ASGCT Annual Meeting!

June 23 – Research Highlights from the ASGCT Annual Meeting

July 28 – Diving into Preclinical Studies

August 25 – Let’s Talk About Routes of Administration

September 29 – The Pathway to an Approval

October 27 – Meet the Researchers

November 17 – Navigating the Patient/Provider Conversation

Solving the puzzle of rare diseases through international collaboration

February 7, 2022 – Shortening the diagnostic journey and providing effective treatments are key to a longer and healthier life for patients. These are just a few of the major milestones in rare disease research spearheaded by the International Rare Diseases Research Consortium (IRDiRC), a joint initiative by the European Commission and the US National Institutes of Health launched in 2011. As the largest consortium in rare diseases research in the world today, with close to 60 organisations, the IRDiRC has taken international rare disease collaboration to new heights.

NCATS Article – The Substantial Burden of Rare Diseases and What We Can Do

February 1, 2022 – Four recent studies examined the cost burden of rare diseases in the United States. NCATS Acting Director Dr. Joni Rutter and other experts co-authored a new article to summarize the findings. They noted that medical and nonmedical costs for people with rare diseases are estimated at $1 trillion a year, and they recommended steps for action. The article helps increase the understanding of the medical and economic burdens of rare diseases and how to improve the lives of people in the rare diseases community. Read the article to learn more about the research, as well as the solutions proposed by the authors.

Everylife Foundation for Rare Diseases – Guide to Patient Involvement in Rare disease Therapy Development

January 27, 2022 – The EveryLife Foundation for Rare Diseases, in partnership with Biotechnology Innovation Organization (BIO), National Health Council, and the Pharmaceutical Research and Manufacturers of America (PhRMA), will introduce a transformational resource, the “Guide to Patient Involvement in Rare Disease Therapy Development.” This landmark tool was developed by nearly 100 community leaders over the past year during the Patient Focused Drug Development (PFDD) Rare Disease Compendium Roundtables, a series of four virtual workshops that considered the application of FDA Guidances across four lifecycle stages of medical product development. 

NORD Announces 13 Rare Disease Centers of Excellence

November 4, 2021 – The National Organization for Rare Disorders (NORD) announced 31 NORD Rare Disease Centers of Excellence across the United States, establishing a unique network of medical centers, clinics, and institutions to advance care and expand access for rare disease patients.The program is being led by NORD to promote outstanding treatment for rare disease patients regardless of disease or geography, elevate collaboration, improve standards of care, advance research, and increase awareness about rare diseases in the broader medical and patient communities. The two centers in North Carolina are Duke Health Rare Disease Center and UNC Children’s – North Carolina Children’s Hospital.

CZI Awards $13 Million to Patient-Led Organizations Advancing Rare Disease Research

November 3, 2021 – The Chan Zuckerberg Initiative (CZI) announced $13 million in funding for 40 patient-led, rare disease advocacy organizations that are working alongside researchers and clinicians to accelerate research in their disease areas. These grants are part of CZI’s Rare As One (RAO) Project, aimed at supporting and lifting up the work that patient communities are doing to drive progress in the fight against rare diseases.

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.” 

Rare Disease Day Symposium on Collaborating to Impact Patient Lives: Highlights and Summary

The Symposium, held Feb. 24 at Syneos Health in Morrisville, NC, brought together clinical researchers in industry and academia, advocates, patients and their families, health care providers, legislators and sponsors to discuss “the present and future state of clinical research in rare disease and the latest initiatives driving change.”

Rare Disease Day

For Rare Disease Day, a conversation with a family with a rare disease.

NC Rare Disease Advisory Council Associate Chair represented on steering committee of The Forum for Collaborative Research focuses on Rare Disease

Tara Britt, Associate Chair of the NC Rare Disease Advisory Council, has joined the steering committee of The Forum for Collaborative Research’s Rare Diseases Forum which facilities drug development for the treatment of inborn errors of metabolism and other genetically based rare diseases.

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).