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.

Sanfilippo Grant Competition Now!

The Sanfilippo Children’s Foundation’s 2017 grant-funding round is now open for medical research into Sanfilippo syndrome. They are accepting expressions of interest until April 3, 2017. Successful expressions of interest will be notified in mid-April 2017. The deadline for full applications is May 19, 2017. Funding decisions will be made in August 2017.

The Sanfilippo Children’s Foundation funds Sanfilippo syndrome medical research internationally, and has two types of grants available: ‘Incubator’ and ‘Translational.’ They also fund PhD scholarships within Australia, where the Foundation is located. The Sanfilippo Children’s Foundation is particularly interested in three focus areas:

• halt disease progression through therapies such as enzyme replacement, gene therapy and cell therapy, and employ strategies to enhance the effectiveness of such emerging therapies;

• repair and reverse the cell damage caused by Sanfilippo syndrome, which could include the application of neuroregeneration advances made for other neuro-degenerative diseases; and

• improve quality of life through palliative care and symptom management specific to Sanfilippo syndrome.

Be sure to visit their web page for more information. They are accepting e-mail inquiries also.

4th Conference on Clinical Research for Rare Diseases (CCRRD)

On November 3, 2016 the Rare Diseases Clinical Research Network (RDCRN) hosted the 4th Conference on Clinical Research for Rare Diseases (CCRRD) in Washington D.C. The Lysosomal Disease Network’s then-current fellows Michael Flanagan, PhD; Li Ou, PhD; Reena Kartha, PhD and Kwangchae Yoon, PharmD; and past fellows Zoheb Kazi, MD; Mari Mori, MD; Melani Solomon, MD and Joseph Schneider, PharmD participated in this conference. Goals of the conference included discussing the instruction of new investigators in rare disease research methodology; developing a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

The following day, the semi-annual RDCRN principal investigators’ meeting, attended by the principal investigators of all of the twenty-two RDCRN research consortia, was held in Washington D.C. Lysosomal Disease Network’s Principal Investigator Chester B. Whitley, PhD, MD, presented an overview of a few of the scientific achievements of the Lysosomal Disease Network (clicking on this link results in a 3.5 MB download to your computer).

Conference on Batten Disease — Videos!

The 15th International Conference on NCL (neuronal ceroid lipofuscinosis, a.k.a. Batten disease) took place in Boston, Massachusetts on October 5-8, 2016. There are 3 valuable videos and 3 online articles available from this conference at NCL Conference Videos, presented courtesy of BioMarin Pharmaceutical Inc. and Rare Disease Report®. One of the online articles presents the results of the Batten Disease Parent Survey that was conducted during the annual Batten Disease Support and Research Association’s Family Conference in July 2016. These survey results were also presented at this 15th International Conference on NCL, and help clarify the parents’ perspective on their interactions with the professional medical and research community. Lysosomal Disease Network principal investigators Ronald Crystal, M.D. of Weill Cornell Medical College in New York, and Jonathan Mink, M.D., Ph.D. of the University of Rochester Medical Center in New York were among the many outstanding researchers who presented findings at this conference.

Conference on Clinical Research in Rare Diseases

Conference on Clinical Research in Rare Diseases Presented by the Rare Diseases Clinical Research Network

NOVEMBER 3, 2016, WASHINGTON, D.C.

Research is the Only Way Forward

The Rare Diseases Clinical Research Network is hosting the 4th Conference on Clinical Research in Rare Diseases at the Washington Marriott Wardman Park Hotel in Washington, D.C. on Thursday, November 3, 2016. This unique conference will focus on research methodology for rare diseases, and is of particular interest to trainees, fellows, and junior faculty engaged in research in rare diseases. For more information about the Conference, including details about the program, how to submit your abstract, how poster-presenters can apply for travel awards, and Conference logistics and registration, visit the Conference website: 4th Conference on Clinical Research in Rare Diseases. Attendees must register for the meeting. There is a meeting registration fee of $100, which includes meeting materials, breakfast, lunch, snacks and refreshments. The registration deadline is October 19, 2016. Abstracts will be accepted through October 3, 2016. Much more information is available via the registration page, so please become informed now!

The Lysosomal Disease Network, which is part of the Rare Diseases Clinical Research Network (RDCRN), will be well represented at the Conference, along with all the other RDCRN rare diseases research consortia. As a rare disease researcher, it is not required that you be a member of one of the RDCRN rare diseases consortia in order to attend this Conference — all interested rare disease researchers are welcome, and encouraged, to register and attend. Please join us!