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


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!

Research Funding Opps Seeking Applicants!

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 FoundationJammin’ for JPChase 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; administrative queries should be sent to Ms. Charleston at

Leukodystrophy Research Videos!

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.

NNPDF has 2 Research Fellowships Taking Applications Now

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:

NIH-Funded LDN Investigators Annual Meetings

The Council of Research Experts (“CORE”) – also known as the NIH-funded Investigators, or Lysosomal Disease Network Investigators – met on Friday, March 4, 2016. Presentation slides from the 2016 meeting can be found here.

The Council of Research Experts also met on Friday, February 17, 2017 in San Diego, California. Dr. Rashmi Gopal-Srivastava’s presentation slides from that meeting can be found here (clicking on this link results in a 7.4 MB download to your computer). Dr. Jeffrey Krischer’s presentation slides from that meeting can be found here (clicking on this link results in a 2.8 MB download to your computer).