Events

Posted on June 7, 2021

National Tay-Sachs & Allied Diseases Association

June 2021   

Dear NTSAD Community,   
It’s with mixed emotions that I share with you that after nearly 14 years, I am stepping down from my role as NTSAD’s executive director at the end of October. I am looking forward to starting a new chapter in my life, knowing that NTSAD remains strong. I will help facilitate a smooth transition in leadership and support the board of directors who has initiated the search for my successor.    

It has been my great honor to lead NTSAD. I am proud of the extraordinary progress in research as well as our ongoing efforts to put the needs of families first with comprehensive resources, programs, and services. Together, we have accomplished more than I ever hoped when I joined NTSAD in 2007. Currently, there are 14 drug development programs and clinical trials underway, and industry continues to invest in developing therapies for Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases.

NTSAD is one of the oldest and most respected patient advocacy groups in the rare community and remains in a position of financial strength with healthy reserves. I am immensely grateful to our dedicated board of directors and compassionate NTSAD staff.

In addition, NTSAD has a five-year strategic plan in place, and recently broadened research direction focusing on clinical development, early diagnosis, newborn screening, and translational research. During the last two decades, NTSAD invested in much of the early research that has led to today’s drug development programs and clinical trials. Since 2002, NTSAD has awarded more than $4 million in research grants that have been leveraged to more than $30 million in additional grants from the National Institutes of Health and other institutions.

The people, the organization, and my work all mean so much to me. This role has allowed me to connect with inspiring people, starting with the families who allow us to share in the darkest and brightest days of their journey, and who will move mountains to advocate for their child or themselves, support others, and raise money for research. I also have been honored to work closely with brilliant and dedicated experts who are making a brighter future possible through research, clinical care, or developing new treatments. It has been a blessing to meet so many people who have influenced me and touched my heart.

The work continues, and I look forward to celebrating with you when effective treatments are found. My heart will remain with the NTSAD Community, always.

With gratitude, 
Sue

P.S. If you have any questions about the search, please contact EDSearch@ntsad.org.

Posted in Events

Posted on May 28, 2021

SAVE THE DATE! — Join us June 19-20 and 26-27 for our 35th Annual Family Conference! Taking place virtually, this conference will focus around the theme of remaining connected and the overlap within diagnoses, but highlight and recognize the uniqueness of each through individualized sessions for each syndrome type. The conference features clinicians, scientists, researchers, FDA representatives, advocacy, family support, and much more. More information here, registration information coming soon!

Posted in Events | Tagged MPS Society, MPS Society family meeting, National MPS Society meeting

Posted on May 28, 2021 

SAVE THE DATE! — Join us June 19-20 and 26-27 for our 35th Annual Family Conference! Taking place virtually, this conference will focus around the theme of remaining connected and the overlap within diagnoses, but highlight and recognize the uniqueness of each through individualized sessions for each syndrome type. The conference features clinicians, scientists, researchers, FDA representatives, advocacy, family support, and much more. More information here, registration information coming soon!

Posted in Events | Tagged MPS Society, MPS Society family meeting, National MPS Society meeting

Posted on April 21, 2021

A virtual workshop “COVID-19 Mitigation Strategies in Pediatric Rare Disease Clinical Trials” is being offered by the Critical Path Institute.

On May 7, 2021, 12:00-1:30 PM Eastern Time (US), the Patient-Reported Outcome (PRO) Consortium’s Rare Disease Subcommittee will hold a complimentary virtual workshop on COVID-19 Mitigation Strategies in Pediatric Rare Disease Clinical Trials. The workshop facilitators will foster an interactive format, with attendees encouraged to share their own challenges and mitigation strategies.

Objectives for the workshop:

• Identify challenges to conducting pediatric rare disease clinical trials posed by COVID-19.
• Present a range of strategies aimed at limiting the impact of COVID-19 on the conduct of pediatric rare disease clinical trials.
• Present a range of mitigation strategies aimed at safely and successfully conducting in-person and remote assessments under pandemic conditions.
• Provide an interactive forum for idea sharing related to COVID-19 impact and mitigation strategies across a variety of stakeholders.

The workshop presentation will be recorded and posted to the PRO Consortium’s web page following the workshop. In addition, a document summarizing identified challenges and mitigation strategies in pediatric rare disease trials under pandemic conditions will be posted on the PRO Consortium website for reference.

Register here

Posted in Events | Tagged covid and rare diseases, covid mitigation, covid storage disorders, covid workshop, pediatric covid

Posted on April 16, 2021

A free, online, continuing medical education (CME) course is available for any healthcare provider interested in learning about Sanfilippo syndrome.

The 30-minute course is targeted to healthcare providers who are unfamiliar with Sanfilippo, also known as Mucopolysaccaridosis type III (MPS III).

Upon completion of the course, participants should be better able to:

• Review Sanfilippo syndrome (MPS III) as a lysosomal storage disease
• Relate the progressive nature of the disease
• Describe clinical features frequently present at the time of diagnosis
• Name three common pediatric diagnoses associated with Sanfilippo syndrome
• Consider ordering urine GAG test and/or MPS enzyme panel once clinical suspicion is raised

This course is ideal for physicians, nurse practitioners, therapists, pharmacists, and anyone generally interested in learning more about Sanfilippo syndrome.

The free online CME course on Sanfilippo is available through June 29, 2021.

Creation of the course was supported by an independent education grant from Abeona Therapeutics.

Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP, was a contributor to the content of the course in collaboration with P2P Syncro.

The training is available at: https://learning.freecme.com/a/36191P2VWjvN

Posted on March 9, 2021

* Federation of European Biochemical Societies – A charitable organization advancing research in the molecular life sciences across Europe and beyond.

360° Lysosome: from Structure to Genomics, from Function to Disease

This course will be held in Kusadasi, Turkey, October 5-10, 2021. This course will focus on lysosome biology and function, new metabolic and signaling insights into the function of lysosomes, pathophysiological mechanisms of lysosomal dysfunction in living cells. This course will bring together Basic Scientists & lab researchers & clinicians working on this unique field on the molecular and cellular aspects of lysosomal storage diseases. This workshop intends to create a scientific platform to discuss advances in the field as well as to establish novel networks among the participants for future collaborations. In order to maximize the opportunities for interactions between young researchers and all participants, the workshop is planned in a dynamic format of plenaries, panels, round-table discussion, poster and oral presentation sessions. A specific meeting slot is allocated for Breakfast & Young Scientists Professional Development. This meeting is a preferential slot which will deal with hot issues in the postgraduate education and further academic and/or industrial careers of young scientists.

Posted in Events | Tagged advanced lysosome course, FEBS, federation of european biochemical societies, genomics, lysosome conference, lysosome genomics, lysosome lecture, lysosomes

Posted on February 22, 2021 

This Sunday, February 28th, is Rare Disease Day, all around the world!

Events will kick off Friday, February 26th, with the University of Minnesota’s virtual presentation: “Telehealth in Rare Disease Clinical Practice and Research: The Silver Lining Now and Beyond COVID-19“. Register for the program here.

Check out other events on the official website, rarediseaseday.org and look for more information from NORD (National Organization for Rare Disorders) and NIH (National Institutes of Health).

Patients, families, caregivers, and allies have an opportunity to raise rare disease awareness through participation in events and presentations, so join in and let your voice be heard!

Tell your story, get information about treatments and resources, and come together as a community dedicated to finding cures for rare diseases!

Follow Rare Disease Day on their official facebook, instagram, and twitter feeds!

Posted on October 29, 2020

World Sanfilippo Awareness Day on Nov. 16 is about spreading awareness and sparking conversations globally about Sanfilippo Syndrome, a disease few have heard of. 

This special day of Awareness is in honor of the children around the world living with Sanfilippo Syndrome today, and those who have passed away.

It also honors the families of these precious children.  

It is a community-wide awareness day and not specific to any foundation or organization. 

Additional information, flyers, social media images, and more are available at https://curesanfilippofoundation.org/worldsanfilippoawarenessday/.

Posted on October 5, 2020

Presented by the National MPS Society and the University of Minnesota Division of Clinical Behavioral Neuroscience

Designed for doctoral-level psychologists, trainees, and psychometrists seeing MPS patients in clinical trials, this comprehensive course will provide a robust understanding and increased site readiness in response to the growing number of MPS trials. The Master Class will be held online and via live webinar Nov 12 and 19, with presentations geared to both those who are newly working in MPS and to those with expertise. Participants will have the opportunity to ask questions of world experts and to meaningfully connect with others in their field.

Master Class Faculty include world experts in MPS and cognitive assessment:

Elsa Shapiro, Ph.D.; Curriculum Development, Lead Faculty
Julie Eisengart, Ph.D.;  Site Educational Director, Lead Faculty
Paul Harmatz, MD; UCSF Benioff Children’s Hospital Oakland
Stewart Rust, D.Clin.Psy; Royal Manchester Children’s Hospital
Kelly King, Ph.D.; University of Minnesota
Heather Adams, Ph.D.;  University of Rochester Medical School
Kendra Bjoraker, Ph.D.; 3:1 Neuropsychology Consultants

Additional expert speakers include FDA representation and patient advocacy leaders

Qualified participants may register at no cost thanks to industry support through the National MPS Society. Interested attendees should apply by October 31st. Site PIs may use the same link to nominate psychologists.

Learn more at www.MPSMasterClass.com

Posted on September 2, 2020

The National Fabry Disease Foundation’s virtual Fabry Education Conference is being held on October 3-4, 2020. Primary attendees are individuals with Fabry disease, family members, and caregivers. Other attendees from clinics and support organizations are welcome and encouraged to attend. Please see the conference guide and the conference website at https://tie.link/fabry. Registration closes on September 27, 2020. For more information, please contact Jerry Walter at jerry.walter@fabrydisease.org.

Posted on January 8, 2020

16th Annual WORLDSymposium is February 10 – 13, 2020 in Orlando, Florida, USA. This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.

Posted in Events

Posted on August 1, 2019

SEPTEMBER 20-21, 2019 IN HOUSTON, TEXAS, USA

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).

Posted on July 18, 2019

SEPTEMBER 18-20, 2019 IN SAN DIEGO, CALIFORNIA, USA

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, 2019. Exhibitors can book their booth space now. Contact Global Genes® for answers to your exhibiting questions.

Posted on July 15, 2019

SEPTEMBER 6-8, 2019, AT VICTORY JUNCTION CAMP IN RANDLEMAN, NORTH CAROLINA, USA

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.

Posted on July 1, 2019

SEPTEMBER 5-6, 2019, IN GREENSBORO, NORTH CAROLINA, USA

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.

Posted on September 18, 2018

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.

Posted on September 10, 2018

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.

Posted on July 24, 2018

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 Center. A 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!

Posted on July 2, 2018

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!

Posted on April 1, 2018

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.

Posted on February 5, 2018

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.

Posted in Events | Tagged COPA, workshop

Posted on March 8, 2017

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.

Posted on November 4, 2016

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).

Posted on October 20, 2016

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.

Posted on September 16, 2016

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

NOVEMBER 3, 2016, WASHINGTON, D.C.

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!

Posted on August 24, 2016

The Perelman School of Medicine at the University of Pennsylvania’s Orphan Disease Center (“ODC”) sponsors a Million Dollar Bike Ride each May in Philadelphia. As the result of this year’s successful Million Dollar Bike Ride, the ODC is offering several research funding opportunities in the lysosomal diseases. These grants are open to the international community (they are not limited to University of Pennsylvania or the Children’s Hospital of Philadelphia). These lysosomal disease research funding opportunities are:

1. For mucolipidosis type IV (ML4), one $45,000 pilot grant available to investigators conducting research on all aspects of disease including disease pathogenesis and clinical studies. This grant is made possible by Team Cure ML4, Pedal4Paul, Climb4Carin, and the ML4 Foundation.

2. For the MPS diseases, two $52,000 pilot grants available. ODC is seeking applications directed to treating the central nervous system manifestations of these diseases. These grants are made possible by Team MPS, the National MPS Society and The Ryan Foundation.

3. For Niemann-Pick disease type C (NPC), two $51,000 pilot grants are available. ODC will give preference to research projects developing new therapies for NPC, and translational research projects that improve our understanding of the biology, pathogenesis and disease state (i.e., biomarkers or functional outcome measures to assess therapeutic impact). This grant is made possible by Team NPC, the Andrew Coppola Foundation, Jammin’ for JP, Chase the Cure and iPedal4Chad.

4. For Tay-Sachs, Sandhoff, GM-1 or Canavan disease, one $42,000 pilot grant is available focusing on forms of Tay-Sachs, Sandhoff, GM-1, or Canavan disease. ODC is soliciting proposals for innovative research projects that involve basic research, translational studies or clinical studies relevant to the diseases mentioned above. Projects may be focused on (1) pre-clinical and clinical research needs, such as clinical outcome measures, registries, animal models, or biomarkers; or (2) technology approaches such as stem cells, molecular chaperones, substrate inhibitors, small molecule drug screening, gene therapy, novel drug delivery to the brain. This grant is made possible by Team NTSAD and the National Tay-Sachs & Allied Diseases Association.

Eligibility for these funding opportunities is restricted to individuals holding a faculty-level appointment at an academic institution, or a senior scientific position at a non-profit institution or foundation.

Deadline to Apply: Submit your Letter of Interest (“LOI”) in the required online form no later than Friday, September 16, 2016 by 8 p.m. EST. Full application is by invitation only, after review of LOIs.

For the downloadable Million Dollar Bike Ride RFA Guidelines, the link to the online Letter of Interest submission form that must be used, the full list of all available Million Dollar Bike Ride funding opportunities (this includes many non-lysosomal diseases) and other information, visit: current Orphan Disease Center funding opportunities and read the entry entitled “2016 Million Dollar Bike Ride Grants.”

Questions regarding the scientific content of potential projects can be directed to Ms. Molloy at moniquek@exchange.upenn.edu; administrative queries should be sent to Ms. Charleston at scharle@upenn.edu.

Posted on June 24, 2016

The Global Leukodystrophy Initiative (“GLIA”), in collaboration with the Moser Center for Leukodystophies, held a 3-day conference entitled “Emerging and Translational Biology of Leukodystrophies” at the Kennedy Krieger Institute in Baltimore, Maryland during May 2016. GLIA has now made many scientific-presentation videos freely available from each day of the conference. Visit GLIA’s Conference videos page, where a wealth of recent leukodystrophy scientific research is available for your education and enjoyment. Thank you GLIA for this wonderful opportunity to learn about recent progress affecting newborn screening, treatment and cure for the leukodystrophies!

The Lysosomal Disease Network wishes to express its thanks to Dean and Teryn Suhr of the MLD Foundation, a member of GLIA and one of the Lysosomal Disease Network’s affiliated patient advocacy groups, who provided audiovisual support to GLIA throughout the Conference. Thanks to their tireless efforts, dozens of people from around the world were able to stream the presentations live via the GLIA website.

Posted on April 6, 2016

The National Niemann-Pick Disease Foundation has two distinct research fellowships taking applications at this time. The submission deadline is May 15, 2016 for both fellowships. Applicants will be informed of the funding decision by September 1st, 2016. Fellowships will begin October 1st, 2016. One fellowship is called the Edward H. Schuchman Research Fellowship, and the other is called the Peter G. Pentchev Fellowship. The following types of medical researchers are eligible to apply:
• Predoctoral students with a lab selected and an approved thesis
• M.D., Ph.D. and D.V.M postdoctoral researchers
• Early career investigators
For extensive details, visit: http://nnpdf.org/

Posted on March 8, 2016