2019 AGSD Patient / Family / Professional Conference


Join the Association for Glycogen Storage Disease for their 41st Annual Patient/Family/Professional Conference for those affected with GSD, their families, and medical professionals involved in treatment or research of any type of GSD. The focus of this annual conference is meeting other people and families affected by GSD, gaining a better understanding of the GSDs and their implications, and learning about the latest research findings and upcoming studies.

The 2019 AGSD Patient/Family/Professional Conference will convene at the Hilton Houston NASA Clear Lake, and August 30, 2019 is the deadline for the special AGSD Conference room-rate of $109/night + taxes. Conference registration is now active. After August 30th, a late fee of $50.00 will be added to all conference registrations. Hotel reservations are attendees’ responsibility. The hotel parking fee is waived. Please call the Hilton Houston NASA Clear Lake at 1-866-577-1156 to make your reservation. You must identify yourself as part of the “AGSD Annual 2019 Conference” to get their discounted rate by the August 30th deadline.

If traveling by air, Hobby Airport [HOU] is the closest airport to the conference location. There is no free airport-shuttle offered by the hotel.

The AGSD Conference costs include the registration fee and the meal costs for Friday evening dinner and Saturday lunch. The Saturday evening dinner and entertainment is provided free for all conference registrants. The 1-mile Fun Run/Walk will be held at the completion of the Conference on Saturday; Fun Run/Walk registration is now open. The Fun Run/Walk is the main fundraiser for the Association for Glycogen Storage Disease this year, and participants are encouraged to enroll sponsors of their run/walk (pledge sheets are available). For further information about the Fun Run/Walk, please contact Jessica Knepler (or by phone at 815-483-1244).

Rare Patient Advocacy Summit


Global Genes® ‘RARE Patient Advocacy Summit‘ gives rare disease stakeholders the opportunity to connect and learn through educational sessions and networking opportunities. Attracting more than 800 attendees, it is the largest gathering of rare disease patients, advocates and thought leaders worldwide. This year’s summit convenes at Sheraton San Diego Hotel & Marina.

Online registration is available now. The final deadline for a discount on the registration cost is July 31, 2019Exhibitors can book their booth space now. Contact Global Genes® for answers to your exhibiting questions.

The National Fabry Disease Foundation’s Annual Fabry Family Camp


The National Fabry Disease Foundation’s 2019 Fabry Family Camp will convene at Victory Junction Camp. Victory Junction Camp is part of SeriousFun Children’s Network (SFCN), an alliance of 9 camps nationally, and 30 camps worldwide, that serve children dealing with serious medical conditions and chronic illnesses. Victory Junction Camp is certified by SeriousFun, which provides strict guidelines on camper care, financial competency, and program innovations.

Families with children who have Fabry disease between the ages of 6-16 (called primary campers) are invited to attend this awesome expense-free adventure. With at least one primary camper, the entire immediate family (primary campers and their parents and siblings) is eligible to participate. The National Fabry Disease Foundation provides airfare, lodging and meals.

There is a multi-step application process to be completed, for those who wish to attend. Phase 1 of the application process has already started. The starting point (application process Phase 1) is the same whether you are a family applying to attend both the Fabry Family Camp and Fabry Family Education Conference; a family or individual applying to attend the Fabry Family Education Conference only; or you are an individual submitting an application to support Fabry Family Camp as one of their awesome volunteers. Don’t delay, contact Jerry Walter at 800-651-9131 or by e-mail: Jerry Walter at The National Fabry Disease Foundation.

The National Fabry Disease Foundation’s Annual Fabry Family Education Conference


The National Fabry Disease Foundation‘s 2019 Fabry Family Education Conference is held just prior to their annual Fabry Family Camp (see below). All individuals with Fabry disease and family members are welcome to attend. Attendees do not have to be attending Fabry Family Camp to attend the Fabry Family Education Conference. The Conference will convene at Embassy Suites by Hilton Greensboro Airport, 204 Centreport Drive, Greensboro, North Carolina, 27409 (situated 10 minutes from Piedmont Triad International Airport, with an airport shuttle).

The Conference’s informal activities are held on Thursday, Sept. 5th, including exhibit tables, research study and survey opportunities, a welcome dinner, and other activities. Educational talks by experienced Fabry physicians and others are provided all day Friday, Sept. 6th. While adults are attending the educational talks, kids and teens are engaged in activities facilitated by a team of contracted nannies and tutors, as well as a chat session facilitated by an awesome team of genetic counselors, nurses and social workers, holding age-appropriate discussions about living with Fabry disease. The groups are divided by age, and by affected or non-affected status. The unaffected sibling chat sessions are equally as important as the chat sessions for affected children. (These chat sessions are reportedly a highlight of the Conference, especially for teens!)

For individuals who need assistance to attend, the National Fabry Disease Foundation (NFDF) may be able to provide airfare, lodging and most meals, depending on available financial resources. There is a multi-step application process to be completed, for those who wish to attend. Phase 1 of the application process has already started. The starting point (application process Phase 1) is the same whether you are a family applying to attend both the Fabry Family Camp and Fabry Family Education Conference; a family or individual applying to attend the Fabry Family Education Conference only; or you are an individual submitting an application to support Fabry Family Camp as one of their awesome volunteers. Don’t delay, contact Jerry Walter at 800-651-9131 or by e-mail: Jerry Walter at The National Fabry Disease Foundation.

10th Annual Rare Disease Scientific Workshop Conceptualizing a Rare Disease Center of Excellence at the FDA

The EveryLife Foundation convened its 10th annual Rare Disease Scientific Workshop, titled “Conceptualizing a Rare Disease Center of Excellence at the FDA,” in Washington, DC on Sept. 13, 2018. The goal of the workshop was to gather key thought-leaders from industry, the Food and Drug Administration (FDA), and patient organizations to discuss potential models, best practices and the pathway forward.

Senior-level officials from the FDA and National Institutes of Health (NIH) presented, along with representatives from industry and patient advocacy organizations. The video of this event, arranged in discrete, consecutive-speaker-order, is available online now.

The Growing Promise of Gene Therapy Approaches to Rare Diseases

UPDATE after this event: The videocast recordings of “The Growing Promise of Gene Therapy Approaches to Rare Diseases” workshop, held August 20–21, 2018 at NIH, are now available from the NIH Videocast Archives. To find the two separate recordings, please notice that below that web page’s title “Most Recent VideoCasts” is a small calendar-icon located to the right of the array of page numbers. Click on that calendar-icon and select either August 20 or 21, 2018. The 2-day event’s videocasts are listed under their respective calendar dates.

On August 20-21, 2018 in Bethesda, Maryland, the National Center for Advancing Translational Sciences (NCATS) and the Food and Drug Administration’s Center for Biologics Evaluation and Research co-sponsored a workshop entitled “The Growing Promise of Gene Therapy Approaches to Rare Diseases.” The workshop reviewed the state of current gene therapy approaches; identified challenges and strategies to overcome those challenges; and discussed how to collaboratively scale and accelerate gene therapy development to benefit patients with rare diseases for which there are yet no effective treatments. Lysosomal Disease Network’s Principal Investigator, Dr. Chester B. Whitley, was among the speakers on a panel, and spoke about gene therapy for lysosomal diseases. This joint meeting facilitated discussion among stakeholders including NIH and FDA staff, academics, researchers, biotech- and pharma-industry, and patient group representatives, on overcoming bottlenecks in the development of gene-based therapies. The workshop convened at National Institutes of Health (Main Campus), NIH Clinical Center, in Bethesda, Maryland. There was no admission fee to attend.

You Could Attend the 5th Conference on Clinical Research for Rare Diseases (“CCRRD”)

The Rare Diseases Clinical Research Network will convene their 5th Conference on Clinical Research for Rare Diseases (CCRRD) on November 19, 2018 in Rockville, Maryland for the benefit of new investigators, trainees, junior faculty, and others interested in rare disease research methodology. Conference attendees are encouraged to submit an abstract; abstracts are reviewed by the planning committee. The abstracts selected by the planning committee will be invited to be displayed as a poster during the conference. Four trainees with the highest-ranked abstracts will be invited to present their work orally during the meeting. Abstract submission deadline: October 22, 2018. Instructions-to-authors for abstracts and posters are here (scroll down).

The 5th CCRRD will take place at the Hilton Rockville Hotel & Executive Meeting CenterA discounted room rate is available until September 11, 2018. Attendees are responsible for making their own hotel and travel arrangements for the meeting. Use the hotel’s group-booking codes (scroll down) when making your hotel reservation.

Attendees must register for the meeting. Registration Deadline: November 12, 2018. Registration is $100 and includes: meals, refreshment breaks, and meeting materials. Travel awards up to $750 are available on a competitive basis for trainees, fellows, and junior faculty. Candidates must register for the meeting, submit an abstract, and submit their current NIH Biosketch before they can be considered for a travel award. All requests for travel awards are judged by a committee from the Rare Diseases Clinical Research Network. Travel Award recipients will be notified by November 5, 2018. The informative CCRRD flyer would look great on the bulletin boards in your research institution!

Young Investigator Awards are Open for Applications!

WORLDSymposium™ 2019 is now accepting applications for its Young Investigator Awards for Basic Science (scroll down that web page for the online application form). To increase opportunities for basic scientists to present their research, WORLDSymposium™ 2019 is offering ten (10) Young Investigator Awards specifically for basic science abstracts. This partial scholarship includes:
• Registration for WORLDSymposium™ 2019 and Emerging Trends 2019
• 4 nights room and tax at the WORLDSymposium™ group rate at the Hyatt Regency Orlando
• Up to $500 towards airfare to travel to WORLDSymposium™ 2019
• All other expenses are the recipient’s responsibility.

Who can apply: Graduate students and those who are within the first 3 years after completing a graduate degree are eligible. Applicants who submit an abstract as the first-author will be considered eligible for the award, and will be selected by the Program Committee on the basis of the content of the abstract. Abstracts are required to be no more than 300 words in length and may not contain images or figures. The Program Committee will select awardees from the applicants who are first-authors of abstracts submitted by the October 1, 2018, 11:59 p.m. central time abstract-submission deadline. All eligible applicants will be notified by November 15, 2018 of the status of their application for the award.

Awards will be presented on Monday, February 4, 2019 at 5:15 p.m. in the Hyatt Regency Orlando rotunda prior to the WORLDSymposium™ 2019 opening reception. Recipients must be present to receive the award. If a recipient is unable to travel to receive the Young Investigator award, an alternate abstract will be selected.

WORLDSymposium™ 2019 Call for Abstracts is now open. Trainees and recent doctoral graduates are encouraged to apply for the Young Investigator Awards!

2018 Rare Disease Day at NIH Event Video is Now Available

On March 1, 2018 “Rare Disease Day at NIH” convened at the National Institutes of Health in Bethesda, Maryland. Rare Disease Day 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. The theme for Rare Disease Day 2018 was research, and the slogan was “Patients are not only subjects but also proactive actors in research.” Free and open to the public, the all-day event at NIH was sponsored by the National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center. It featured podium presentations, posters, exhibits, an art show, and tours of the NIH Clinical Center. Among the presenters was Chester B. Whitley, PhD, MD, the Principal Investigator of the Lysosomal Disease Network. The presentations were live-streamed on March 1, and are now available as online video. Dr. Whitley’s portion of the presentations begins at 1 hour 12 minutes into the video. The entire event video provides a valuable opportunity to increase one’s knowledge of rare diseases and their impact upon individuals and their communities. It also provides insights into the current state-of-the-art in rare diseases research and treatment.

Lysosomal Disease Network’s Council of Patient Advocates 2018 Workshop

The Lysosomal Disease Network’s Council of Patient Advocates (“COPA”) convened their 2018 Workshop on Monday morning, February 5, 2018 at 9:00 a.m. The COPA Workshop was held at the Manchester Grand Hyatt San Diego Hotel in San Diego, California, which was also the venue for WORLDSymposium™ 2018. The annual COPA Workshop is open to patients, their family members/caregivers, and patient advocacy group representatives who desire an active role in partnering with the LDN to provide input to patient-focused studies and clinical trials. There is no cost to attend this meeting. Each January, information about the upcoming COPA Workshop (and how to RSVP for it) will be posted here on the LDN homepage.