Rare Disease Report

NORD News for February - The Voice of the Community

FEBRUARY 11, 2016
Guest post by NORD

Worldwide Observance of Rare Disease Day® to Take Place on February 29

Rare Disease Day® is observed on the last day of February each year. The objective is to raise awareness of rare diseases and their impact on the lives of patients and their families. The 2016 global theme, “Patient Voice”, recognizes the crucial role that patients play in voicing their needs and instigating change. Rare Disease Day® was originally launched by EURORDIS in Europe in 2008, and was brought to the U.S. by NORD in 2009. Since then, it has grown to become a major global event, with 85 countries participating last year.

To learn about Rare Disease Day® activities in the U.S. – and ways for everyone to get involved – go to www.RareDiseaseDay.US, hosted by NORD. To follow worldwide activities, go to www.RareDiseaseDay.org, hosted by EURORDIS.

NORD and ABC News to Host Tweet Chat for Rare Disease Day®

Join NORD and ABC News’ Dr. Richard Besser for a Twitter chat on “Conquering Rare Diseases” from 1 to 2 p.m. ET on March 1. Use the hashtag #abcDRBchat. This annual chat has been described by Dr. Besser as one of his busiest, with more than 30 million participants and 3,000 tweets. This year, diagnosis challenges will be one of the featured topics. Join the conversation and make your voice heard!

State House Events Are Being Planned in 38 States

NORD is working with advocates in 38 states to organize events to educate state legislators on rare disease issues and challenges for Rare Disease Day®. These events focus on specific issues within states as well as more general challenges for patients and medical professionals. To learn whether an event is being planned in your state, visit the official national website for Rare Disease Day® in the U.S.  

Rare Disease Patients to Speak at Medical School and University Programs

Through NORD’s Patient/Caregiver Speakers Bureau, patients and caregivers will share their journeys to diagnosis and other aspects of living with a rare disease at Rare Disease Day® events on several campuses. These include programs at the Frank H. Netter MD School of Medicine at Quinnipiac University, at Northeastern University and on several other campuses. Anyone organizing an event that is open to the public can post information about it for others who may wish to attend.

NIH to Feature Research Collaborations at Feb. 29th Event

The 2016 Rare Disease Day® at NIH will take place on Monday, Feb. 29, from 8:30 a.m. to 3:30 p.m. at the NIH Clinical Center Masur Auditorium in Bethesda. This event, which will focus on research collaborations and other topics, is open to all and online registration is available.   

UPenn Orphan Disease Center Offers CDKL5 Grants

The Orphan Disease Center at the University of Pennsylvania has launched a new pilot grant program for CDKL5 deficiency, a monogenic, orphan condition characterized by treatment-resistant epilepsy and severe cognitive and motor disability. One-year grants of $150,000 will be provided to support research related to CDKL5.

FDA to Sponsor Public Workshop on Effective Engagement with CDER

The Food and Drug Administration's Center for Drug Evaluation and Research will host a free public workshop on March 31 on "Navigating CDER: What You Should Know for Effective Engagement." The purpose is to help the public and patient advocacy groups effectively interact with CDER. This will take place at FDA's White Oak Campus in Silver Spring, MD.

News From NORD Member Organizations

Alport Syndrome Foundation Presents Paul Silver Tribute Awards
Three outstanding young kidney patients have been awarded the fourth annual Paul Silver Tribute Award, created in memory of a film and music editor who passed away at age 38 of Alport syndrome. This genetic kidney disease can cause kidney failure, hearing loss and vision problems. Because teens and young adults are hardest hit by the disease, the Paul Silver Tribute Award was developed to support education or a project or activity to enhance a young person’s life. The recipients this year are Tristin Rancour of South Dakota, Jeffrey Stamp of Minnesota and Joseph Sales of California.

Galactosemia Foundation Conference Set for July 14-17
Registration is now open for the Galactosemia Foundation conference, which will take place July 14-17 in Atlanta. Special programs are being planned for different age groups, including children, teens, adults, and older adults. 

IWMF Educational Forum to Connect Patients & Caregivers with Medical Experts
The International Waldenstrom’s Macroglobulinemia Foundation Educational Forum presents a unique opportunity for patients and caregivers to learn about this disease from medical experts. The 2016 Forum will take place June 10-12 at the Omni Providence Hotel.

Moebius Syndrome Foundation Conference to Take Place July 15-17
The 12th annual Moebius Syndrome Foundation Conference is scheduled for July 15-17 in Long Beach, CA. Highlights will include updates on research, employment interviewing and networking, orthopedic issues, respiratory care and more.

The Morgan Leary Vaughn Fund Announces New Podcast
The 11th episode in the Speaking of NEC podcast series focuses on standardized feeding protocols as they apply to very low birth weight babies. This series of one-on-one conversations with NEC (necrotizing enterocolitis) experts is produced by The Morgan Leary Vaughn Fund and made possible by the Petit Family Foundation.

NET Research Foundation Receives Transformational Gift From Margie and Robert E. Petersen Foundation
A Margie and Robert E. Petersen Foundation to launch the most ambitious research effort ever undertaken to control and cure neuroendocrine tumors. This form of cancer, which claimed the life of Apple founder Steve Jobs, is diagnosed in an estimated 12,000 Americans each year. The $15 million gift will provide $5 million per year for three years in funds and endowment to support research toward a cure.

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