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NORD News for January - The Voice of the Community

JANUARY 15, 2016
Guest post by NORD

News from NORD and its Member Organizations

NORD Launches Redesigned National Rare Disease Day Website   

NORD has redesigned the official national website for Rare Disease Day with news, features, and resources to help everyone find a way to show support for Rare Disease Day 2016, which will take place on Feb. 29. Highlighting this year’s global theme, Patient Voice, the new site will be a place to download free resources, post information about events, and learn what others are planning. 

Since NORD participates in planning Rare Disease Day each year with EURORDIS, which hosts the global website, the messaging and resources on the US site are consistent with those being used worldwide.  Content will be updated frequently so regular visits to the site are encouraged. Ways to get involved in Rare Disease Day 2016 include the following:

Register to Attend a State House Event in Your State

State House Events are being planned in at least 35 states. Register here to indicate your interest in participating in a State House Event or possibly working with others to organize one if none is planned yet in your state. Today, policies important to the rare disease community often are determined at the state level.  Join NORD in making the patient voice heard – not just in Washington DC – but in state legislatures across the US!

#CoverTheMap for #RareDiseaseDay

Local events are a great way to support the educational goals of Rare Disease Day! Help NORD #CoverTheMap by organizing an event with your friends or co-workers. Get ideas here, and share your plans with NORD so that we can post your event on the US and global Rare Disease Day websites.

Help NORD Promote Rare Disease Awareness Among Future Medical Professionals

NORD is helping students plan Rare Disease Day events at several universities and medical schools. We also provide patient/caregiver speakers for classroom and campus events throughout the year. If you are a patient or caregiver willing to share your story, write to education@rarediseases.org. Register here, if you are organizing a campus event.

NIH to Host its Annual Rare Disease Day Event

As it does each year, the National Institutes of Health (NIH) will host a Rare Disease Day event featuring tours, posters, exhibits and presentations. The event will take place on Monday, Feb. 29, at the Masur Auditorium on the NIH campus in Bethesda. This event is open to all. Online registration is now open.

NORD to Host Advocacy 101 Webinar on January 28th

Anyone interested in learning the basics of effective advocacy may register for an Advocacy 101 webinar to be hosted by NORD on Thursday, Jan. 28, from 3 to 4 p.m. ET. Individuals planning to participate in Rare Disease Day State House Events would be particularly encouraged to participate. Pre-registration is required.

Rare Impact Award Nominations are Now Open

NORD is proud to host the 2016 Rare Impact Awards to bring together the rare disease community to honor and celebrate outstanding achievements. Nominations may be made until February 1 of individuals who have had a positive impact on the rare disease community in 2015.

Nominees may include patients, caregivers, advocates, physicians, medical experts, researchers, media, educators, legislators and others. Special value will be placed on nominations of individuals whose efforts have been beneficial to the community as a whole.

The Rare Impact Awards event will take place on May 17th at the Warner Theater in Washington DC. Information about tickets, sponsorship, hotel reservations and other logistics is available on the NORD website.

NORD Submits Comments Regarding Protection of Individuals in Research

Several months ago, the Department of Health and Human Services published proposed changes to the “Common Rule”, the regulations that protect individuals who participate in research. Recently, NORD submitted comments to the Office for Human Research Protections (OHRP) regarding the proposed changes. In addition, NORD and 11 other organizations, including March of Dimes and the American Congress of Obstetricians and Gynecologists, wrote a letter to OHRP on the implications of the proposed changes for universal newborn screening programs.

January 29th is Deadline to Apply for Natural History Studies Project

Applications are being accepted now for the NORD Natural History Studies Project. This is a project made possible by an FDA grant in which NORD will work with disease-specific patient organizations to develop natural history studies for 20 rare diseases. Information about this pilot project, the application and selection criteria are available on the NORD website.


News From NORD Member Organizations

Sixth Ataxia Investigators Meeting

The National Ataxia Foundation announces the Sixth Ataxia Investigators Meeting to take place Marcy 29-April 1 at the Caribe Royale in Orlando, FL. NAF is currently accepting abstracts. More information can be found here or by contacting Sue Hagen at susan@ataxia.org.

Fat Disorders Research Conference

Karen L. Herbst, MD, PhD, will be the keynote speaker at the Fat Disorders Research Society Conference in St. Louis on April 8-10. Topics will include surgical and non-surgical treatment options for lipedema and Dercum’s disease.

Preclinical Therapeutic Discovery for Urea Cycle Disorders

Baylor College of Medicine and the National Urea Cycle Disorders Foundation have together established the CureUCD Center for Preclinical Therapeutic Discovery to advance understanding, treatment and cures for urea cycle disorders. Supported by the Foundation, the CureUCD Center will engage technology and drug companies in early stage testing and validation studies of new small molecules, nucleic acids, and cell and gene therapies for these disorders.

Global CNS Gene Therapy Clinical Trial is Underway at NIH

The first intrathecal administration of an adeno-associated virus (AAV) gene therapy vector is underway at NIH for an ultra-rare, neurodegenerative disorder called giant axonal neuropathy (GAH), a differential diagnosis of Charcot-Marie-Tooth Type 2. To date, two subjects have been injected with self-complimentary AAV serotype 9/GAN. There have been no adverse events. All preclinical work for this investigational biologic was funded by Hannah’s Hope Fund for GAN, a 501c3 public charity.

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