North Carolina Rare Disease Coalition

09/05/2022

A new discovery.

Beijing: Chinese scientists have identified a new gene, the deficiency of which may lead to a rare, life threatening blood disease called hemophagocyt...

05/12/2022

Learn more about a new opportunity to connect rare disease patients with researchers to advance rare disease research.

The Rare Diseases Clinical Research Network (RDCRN) is launching a contact registry to connect rare disease patients with researchers and advance rare disease research. The registry will collect and maintain the contact information of people who want to receive information about rare diseases resear...

05/04/2022

Are you a caregiver?

https://l.facebook.com/l.php?u=https%3A%2F%2Fcourageousparentsnetwork.org%2Fevents%2Fa-screening-of-unseen-how-we-are-failing-parent-caregivers-and-why-it-matters%3Ffbclid%3DIwAR36IpPvX0hhJ7pLq9QvlYtMquylt4DKruy5eKQyZvx9ooLuH41hq180_IM&h=AT3T1ySrnh6ImWocj1d_-ufU7_0ywl4FfJ_X1YyIHTZzbeZnw_LmMkoRcz8WkHXyl6d197bCw5RvdBeUoGh98R48GnG5ukDw2ZNvBg2AgBIUSQrgNhpoq2-laewUO_Bpph3l-ibapoWENBaSmgoz5j0&__tn__=H-R&c[0]=AT2hKKz2SLKyPVK9awslco-9QT9gyKqTwGv7ayQ92LgS9t3U-xdqvepn3ICAmNeVYclYsb7EG8p-hE1M9_kA79z5e0HwM0FpBJWF1VVNkwZysV5StqxUXnB50vI4qp7A5JSNRDzkgAn5DQtm1n9tTR3M7FIw776Ixyf5Gf658EmODAc7m67qyoaULFbRcDG3pofP0BUXyGHw3_QC9RS_fupe4BU

Join Us to Be Seen, Be Heard, and Help Us and Others Better See Courageous Parents Network

02/24/2022

EveryLife Joins Rare Disease Leaders in Call to Strengthen and Protect Accelerated Approval Pathway

The EveryLife Foundation for Rare Diseases kicked off Rare Disease Week on Capitol Hill 2022 by joining rare disease leaders in urging Congress to protect and strengthen the FDA’s accelerated approval (AA) pathway. The group of experts made the case during a virtual Rare Disease Congressional Cauc...

02/15/2022

Would you like to understand more about gene therapy? The American Society of Gene and Cell Therapy in collaboration with NORD, is offering a series of monthly, virtual Lunch & Learns. The first topic is Gene Therapy 101 and takes place on Thursday, February 24 from 1:00-2:00p ET.

The link to the agenda and registration:

https://patienteducation.asgct.org/events/lunch-learn-gene-therapy-101

Additional information and a full series schedule can be found here:

https://asgct.org/research/news/february-2022/patient-education-lunch-and-learns

If you are looking to get a better understanding of gene therapy, join us for this free Lunch & Learn! During this educational session, experts in the field will review different gene therapy approaches, disease applications, and research processes, and describe the current state of the field. Prese...

02/13/2022

The Advisory Committee on Heritable Disorders in Newborns and Children has voted to approve MPSII for the Recommended Uniform Screening Panel (RUSP). Congratulations to the National MPS Society (located in Durham) and all who have diligently worked to make this happen. It is a "momentous occasion" for the MPSll patient community. Screening newborns will provide equitable access to immediate, life-saving therapies.

02/09/2022

The Wells Fargo Duke Energy Center will be lit in the colors of Rare Disease Day on Monday, February 28, in recognition of Rare Disease Day 2022 and the Light Up for Rare campaign. If you are in the Charlotte area, share a photo of the building shining bright with green, blue, pink and purple, and tag NORD, the official sponsor of Rare Disease Day in the US.

How will you recognize Rare Disease Day 2022?

01/13/2022

https://www.rarediseaseadvisor.com/features/dmd-features/pilot-projects-in-2-states-show-promise-in-screening-newborns-for-duchenne/
North Carolina is one of three states with a pilot program testing the feasibility of widespread screening for newborns for Duchenne muscular dystrophy (DMD).

Pilot programs in New York, Massachusetts, and North Carolina testing babies for DMD may bolster the case for nationwide screening for this rare disease.

12/28/2021

The first-ever United Nations Resolution to increase visibility for the 300 million Persons Living with a Rare Disease was adopted on 16 December 2021 following a 3-year campaign led by the NGO Committee for Rare Diseases, Rare Diseases International, and EURORDIS - Rare Diseases Europe. The resolution recognizes the challenges facing the global rare disease community and aims to protect and promote their human rights at a global level.

The resolution is the result of a global grassroots campaign led by persons living with a rare disease and their families.

A step forward...

10/12/2021

Registration is now open for the 2021 BIO Patient & Health Advocacy Summit. The virtual format brings together patient advocacy orgs, academia, regulators, biotech industry, and other stakeholders for two days of programming to discuss timely policy issues and share best practices. The meeting will be held on October 27-28. Sharing a link for more information -

https://www.bio.org/events/bio-patient-health-advocacy-summit?mkt_tok=NDkwLUVIWi05OTkAAAF_aqL0fsm8UimIm7O8hhFjT_bNUPpFcI7TzTGaOIinmhjr5uYFwKDmF0l3ts2i8r1oCN2VUNxQ2wosTeS7sA2Sf6Hj0PowczAzbimycgV1nMuN

The Biotechnology Innovation Organization is the world's largest biotech trade association. Learn about BIO, register for events and explore member services.

09/14/2021

!!!!You help is needed!!!!

Are you currently taking care of someone with a rare disease? If so, a PhD student from NC State is conducting a study and she needs only one more participant to begin the study. Please see her request below. Also, please help get the word out. Share this post and contact those you know in the rare disease community. You can email rlpaine2@ncsu.edu for more details.

“I am Rachael Paine, a PhD student at the NC State College of Design. I am conducting a research study to better understand how stress changes the way people navigate health information on the internet. One of the goals of the study is to shine light on the need for more resources for effective health communication tools for the rare disease community. I am planning on conducting a focus group to collect data for my study. If you are interested in finding out more about participating in the study, please contact me at rlpaine2@ncsu.edu.”

08/26/2021

Are you currently taking care of someone with a rare disease? If so, a PhD student from NC State is conducting a study and she is looking for people to participate. Please see below. You can email her at rlpaine2@ncsu.edu.

“I am Rachael Paine, a PhD student at the NC State College of Design. I am conducting a research study to better understand how stress changes the way people navigate health information on the internet. One of the goals of the study is to shine light on the need for more resources for effective health communication tools for the rare disease community. I am planning on conducting a focus group to collect data for my study. If you are interested in finding out more about participating in the study, please contact me at rlpaine2@ncsu.edu.”

06/25/2021

Rare disease mom and advocate Amber Freed says that she receives calls every week from parents just starting the rare disease journey and looking for advice. She hopes the Rare Disease Bootcamp will provide support.

Join the Rare Disease Bootcamp Event on “The Diagnostic Odyssey”
Join July 14th at 12pm CT/1pm ET on LinkedIn LIVE
When you have a child, you want the best for that child in every way. For parents of children born with a genetic disorder, a correct diagnosis is the first step to receiving proper care. Unfortunately, there are many logistical and financial complications that make the diagnostic odyssey challenging for rare disease parents.

Rare moms Amber Freed, Brittany Stineman, and Illumina Genetic Counselor Holly Snyder will give you everything you need to know and more in this 1-hour live session.
Add-to-calendar: https://add.eventable.com/events/60af0935c336517621fefbf3/60cca5a11e649f160b1ea678
RSVP: https://www.linkedin.com/events/thediagnosticodyssey-rarediseas6810722985029222400/

Add this event to your calendar: http://evt.mx/toBm9TDQ When you have a child, you want the best for that child in every way. For parents of children born with a genetic disorder, a correct diagnosis is the first step to receiving proper care. Unfortunately, there are many logistical and financial c...

06/11/2021

Considered a rare and serious condition.

Get information on Multisystem Inflammatory Syndrome in Children (MIS-C), a recently reported condition associated with COVID-19.

06/08/2021

If you haven't seen At the Edge of Hope, the inspiring film featuring patients and families on a journey of hope, join Taylor’s Tale co-founder Laura King Edwards and filmmaker Dan Salvo for the PURA Syndrome Foundation's watch party Thursday, June 10 at 4:30 ET. The event is free, but register here to receive entry: https://bit.ly/3x0G6Jd

RSVP to Participate PURA Syndrome 2021 Virtual Conference | June 5–12, 2021 Welcome to the PURA Virtual Conference Registration Page. Please register to receive the event schedule and links for virtual sessions, events and resources. We do require that everyone register to participate so that w....

05/15/2021

Today is International , a day reminding us of the importance of educating others about MPS. To learn more about MPS, visit the National MPS Society website at www.mpssociety.org. Raising awareness and supporting better understanding is important to connecting patients to the support they need and deserve.

The National MPS Society exists to cure, support and advocate for mucopolysaccharidosis and mucolipidosis. Our mission serves individuals, families and friends affected by MPS.

05/04/2021

Good news! A newborn screening bill was introduced on 4/28 with bi-partisan support in the NC House. You can read the bill text at this link: https://webservices.ncleg.gov/ViewBillDocument/2021/50813/0/DRH30330-MG-75

How can you help?

The EveryLife Foundation and RDLA have created a specific action alert to contact your state legislator. https://everylifefoundation.org/rare-advocates/take-action/

Spread awareness to others in your network. It's important that our legislators hear from their constituents.

Let's get this done!