Global Genes® Offers Free Online Courses at its ‘Rare University’

Global Genes® has free online course-offerings at its ‘Rare University.’ A valuable, featured course is entitled ‘Genetics Concepts for Rare Disease Patients and Families.’ It is a completely self-paced online course – you decide when you start and when you finish. It contains the following sections:

• Genetics Concepts for Rare Disease: Eight lessons for learning about many concepts that directly relate to genetic conditions, from basic concepts such as what genes and chromosomes are, to more complex concepts such as epigenetics and multifactorial conditions.

• Family and Heredity: Six lessons for learning more about the inheritance patterns associated with genetic conditions, about genetics healthcare professionals, and information about resources to help you connect with others in the rare disease community.

• Genetic Testing: Seven lessons for learning about how genetic testing works, about different types of genetic tests that exist, and about different types of genetic testing providers.

• Scientific Advances in Genetics and Medicine: Six lessons for learning about advances in genetics and medicine, such as gene therapy, gene editing, and human reproductive treatment advances. You’ll also be able to learn about participation in medical research, such as enrolling in clinical trials.

After registering yourself at Rare University, you have unlimited access to course offerings for as long as you like – across any and all devices you use. Rare University and its course-offerings are generously sponsored by several corporations, including Illumina®Horizon Therapeutics PLCAvexisNovartis and Sanofi Genzyme.

New! Rare Disease Caregiver Respite Program

The National Organization for Rare Disorders (NORD)‘s financial-assistance Respite Program is designed for caregivers (parent, spouse, family member, or significant other) of a child or adult with a documented diagnosis of a rare disorder. The Respite Program provides financial assistance to enable the caregiver to take a break to attend a conference or other event, or to simply have an afternoon or evening away from caregiving. Financial assistance will be granted up to $500 annually for those who qualify. Awards may be spread throughout the year or spent in a single use.


NORD stated that awards are granted on a first-come, first-served basis to eligible individuals. The applicant must be willing to undergo a financial evaluation of need, and fall within the Program’s financial eligibility guidelines. A NORD Patient Services Representative will guide the applicant through the process, including verifying financial eligibility using NORD’s Electronic Income Verification System. The application decision process may take as few as five minutes over the telephone. Applications completed and submitted via e-mail, fax or U.S. mail will be processed within three business days of receipt. There is no fee to apply.

Covered respite care can include:
• Registered Nurse (RN)
• Licensed Practical Nurse (LPN)
• Certified Nursing Assistant (CNA)
• Home Health Aide (HHA)

Initial funding for the Respite Program was donated by Retrophin, a biopharmaceutical company specializing in identifying, developing and delivering life-changing therapies to people living with rare disease. The donation was made in honor of its former CEO Steve Aselage’s retirement from the company. NORD’s Respite Program fund continues to accept additional donations to ensure this program is sustained for years to come. For more information and instructions on how to apply, visit NORD’s information page. Additionally, you can obtain more information about NORD’s Respite Program by telephoning NORD at (203) 616-4328 or sending an e-mail to CaregiverRespite@nullrarediseases.org.

Easily Learn More About CRISPR

The LDN thanks the Batten Disease Support and Research Association (BDSRA) for pointing the way to the following information.

CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is one of the new technologies some researchers are using to explore possible genetic treatment of rare genetic disease. CRISPR is a tool for precision gene editing.

This episode of NOVA, which originally was broadcast by PBS in the United States on May 23, 2018, describes how some researchers are using CRISPR. You may wish to skip to minute 32 to see how gene therapy may help the adrenoleukodystrophy (“ALD”) community.

For an even shorter overview of how CRISPR works, check out this 1.5-minute NOVA Wonders video By Michael Rivera.

CRISPR is one of the topics that will be addressed by expert speakers at “The Next Revolution: Genome Engineering 2018” conference at the University of Minnesota in Minneapolis, July 19-21, 2018. For more details visit our Calendar page, where events are shown in chronological order.

Sanfilippo 2018 Grant Competition Now!

The Sanfilippo Children’s Foundation’s 2018 grant-funding round will open on March 1, 2018 for accepting “Expression of Interest” applications. The 2018 grant competition information will be available beginning March 1, 2018. They are accepting Expressions of Interest until April 3, 2018.

The Sanfilippo Children’s Foundation, located in Australia, funds Sanfilippo syndrome medical research internationally. They plan to invest between AUD$500,000 – $700,000 in their grant-funding program annually across four grant types:

• Translational research grants

• Incubator grants

• Scholarships and Fellowships

• Travel grants

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 neuro-regeneration advances made for other neuro-degenerative diseases; and

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

Beginning March 1, 2018 be sure to visit their web site for more information. They are accepting e-mail inquiries also.

NORD Provides Insurance Videos

Open enrollment for healthcare insurance coverage is November 1 – December 15, 2017. In addition to providing concise information about state healthcare insurance plans, the National Organization for Rare Disorders (NORD) has created a series of videos to help rare disease patients and caregivers in the process of choosing a healthcare insurance plan. There are 4 short videos covering what questions one should ask when going through the process of choosing one’s plan.

Call for Leukodystrophy Papers!

The Journal of Behavioral and Brain Science (“JBBS”, ISSN Online: 2160-5874), a peer-reviewed open-access journal, is seeking papers for the upcoming special issue on “Leukodystrophy”. Researchers and authors are invited to submit original research and review articles exploring leukodystrophy. The aims and scope of this special issue include, but are not limited to:

Krabbe disease
Metachromatic leukodystrophy
Canavan disease
Leukoencephalopathy with vanishing white matter
Adrenoleukodystrophy
Alexander disease
Cerebrotendineous xanthomatosis
Hereditary CNS demyelinating disease
Pelizaeus-Merzbacher disease
Refsum disease
Adrenomyeloneuropathy

Submission deadline is March 15th, 2017. The special issue will appear May 2017.

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.

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.

Grief Resources for Laypersons & Professionals

What’s Your Grief is a web site that provides a large variety of truly valuable resources for individuals coping with grief resulting from death of a loved one, and also for professionals who assist such individuals. The site was founded and is maintained by two Baltimore-based mental health professionals with 10+ years of experience in grief and bereavement whose stated mission is “to promote grief education, exploration, and expression in both practical and creative ways. We aim to provide the public with…

• Education that reaches beyond generalization
• Practical and specific suggestions for moving forward
• Modes of self-exploration and self-expression that suit all types of thinkers and doers
• Ways to honor and remember deceased loved ones
• A supportive community.”

They offer visitors downloadable podcasts on a variety of grief topics, and a long list of categorized grief-coping article topics for quickly finding the relevant, needed information (explore the right side of the web page). This web site can be crucially helpful — don’t miss it!

Tip o’ the Hat to Batten Disease Support and Research Association for sharing this resource in their September 2016 newsletter, The Illuminator.

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 moniquek@nullexchange.upenn.edu; administrative queries should be sent to Ms. Charleston at scharle@nullupenn.edu.