NORD webinar focuses on the power of advocacy

December 2021

A November webinar our organization held featuring two speakers from the National Organization for Rare Disorders (NORD) provided motivational examples of how NBIA families can use their passion and personal stories to promote awareness and advocate for NBIA disorders.

Debbie Drell 

Debbie Drell

Kristen Angell 

Kristen Angell

Debbie Drell, NORD’s director of membership, and Kristen Angell, NORD’s associate director of advocacy, emphasized the power of individuals telling their unique story with passion and originality. “Your story is the most valuable tool you have to be an effective advocate,” Angell said at the webinar entitled, “How Can Rare Families Fight Back?”

Angell and Drell urged families be willing to share their stories and to take part in Rare Disease Day 2022 on Feb. 28. As an example of the impact of compelling storytelling, the NBIA Disorders Association video for NORD Rare Disease Day 2021 spotlighted our families and attracted over 17,000 views. It won an award from NORD for best video and resulted in NORD providing speakers for the webinar.

Other ways the webinar speakers said that families can fight back against rare disorders and have an impact include:

  • Meeting with legislators to raise their awareness, share information and support legislative proposals
  • Bringing awareness to your local community. Fundraisers and stories in the local media are just two ways to do this.
  • Signing up for the Rare Disease Network® (RAN), the nation’s leading advocacy network for rare disorders
  • Joining discussion groups
  • Taking part in Rare Disease Day and use the social media tags, #showyourstripes  #RareDiseaseDay
  • Being creative

The Colosseum in Rome Lights Up for Rare

One creative awareness-raising project, Light Up for Rare, involves asking monuments and public buildings around the world to, literally, shine a spotlight on rare disorders. The NORD speakers said they were proud during Rare Disease Day last year to get the Empire State Building lit up, as well as the National Institutes of Health. Other famous sites that have participated include the Colosseum in Rome, the Leaning Tower of Pisa in Italy, the Eiffel Tower in Paris and Niagara Falls in New York. In addition, many of the world’s tallest buildings were lit up last year, they said.

They mentioned it was virtually impossible to get the White House to light up for a cause, but an NBIA parent on the webinar, Paul Stronski, of Arlington, Virginia, said he would encourage his White House contacts and ask.  Stronski also said he would try to get the Carnegie Endowment on Massachusetts Avenue involved as well.

The webinar also included ideas on how to promote policy and advocacy on local, state, and federal levels, including campaigns organized and supported by NORD.  

The Rare Action Network (www.rareaction.org) is a powerful resource, the speakers said. It offers discussion forums, state report cards outlining state-based policies, action centers for each state, educational tools and training workshops. Joining RAN is an easy way to connect with others and receive alerts about important events and campaigns that affect rare disease families in your area. It even offers coloring pages you can download for the kids.

In 2022, RAN will relaunch their state ambassador program, selecting and training volunteers to become leaders for establishing and building networks within their state.

Rare Disease Day offers families a perfect time to get involved and raise awareness of NBIA disorders. The global reach of the platform grows larger year by year. Visit www.rarediseaseday.org and start preparing to have an impact.

You can view the webinar for more information on ways to be an advocate for NBIA disorders. WEBINAR



NBIA Disorders Association celebrates 25 years

25th AnniversaryJune 2021

This is a year of celebration for the NBIA Disorders Associations as we mark 25 years of service to the NBIA community.

We invite everyone to attend a virtual birthday party to be held on Sept. 26 at 1 p.m. Pacific time, 4 p.m. Eastern. It will be a quick 30 minutes with appearances from key individuals and other surprises. A Zoom link for the party will be sent out to everyone on our newsletter mailing list via email and posted online in September.

Leading up to this celebration we have our 25th Anniversary Tributes underway that everyone can participate in and share with those who have made a difference in their lives. Check out our Celebration site where you can create and send a tribute to anyone: researchers, doctors, teachers, caregivers, NBIA families and individuals. Let them know how they have helped you on your journey or been an inspiration in your life. 

You can also make a donation or become a Partner in Hope as a monthly donor and help us achieve our goals and continue our mission of educating the public, providing support to families and funding research. Those making tributes and/or donations at $250 or above will be part of our 25th Anniversary Celebration Wall at either the bronze, silver, gold or platinum level.

Cheers to 25 years!


Team NBIA Disorders wins BPAN funding as deadline for letter of interest looms

Orphan Disease Centermdbr fundraisingJune 2021

Once again, Team NBIA Disorders has qualified for the maximum matching grant to fund BPAN research through the Million Dollar Bike Ride organized by the University of Pennsylvania's Orphan Disease Center.

BPAN researchers who are considering making a research proposal have until 8 p.m. Eastern Time Sept. 16, 2021, to submit letters of interest.

This year’s Million Dollar Bike Ride on June 12 was the 8th annual and marked the second year the event was held virtually because of the COVID-19 pandemic. But that didn’t stop Team NBIA Disorders. For the fifth consecutive year, the team won the match — $30,000 this year — making a total of $66,366 available for BPAN research.

MDBR2021 1MDBR2021 2

Noah Rusch from Germany invited friends and family to ride their bikes to his home with a donation, and in turn, the family served them cold drinks and freshly baked pizza from their wood-fired oven. They received over 60 visitors bringing donations and raised over $3500 for the MDBR..

NBIA families and friends raised most of the funds in about two months, a record time frame. And for the second year, our sister organization in Germany, Hoffnungsbaum e. V., encouraged their families to help. They generously contributed $5,000 to our total.

Although UPenn's Orphan Disease Center will manage the grant, our organization is closely involved. We ensure that it matches our BPAN research priorities, and members of our Scientific & Medical Advisory Board who do not have any conflicts of interest will review the submissions, along with other ad hoc reviewers. At the completion of the grant award, we will get a report on the research to distribute to our NBIA community.

We have notified scientists in our research database about this opportunity to compete for the BPAN grant. They can visit here to submit a letter of interest. Guidelines for the request for applications (RFA) form can be found here. Those proposals will be due Oct. 18, 2021, no later than 8 p.m. (EST). Full application documents are to be uploaded on UPenn’s Orphan Disease Center website, by invitation only after submitting a letter of interest.


BPAN families have a new way to share data, accelerate research

- By Patricia Wood

RareX logoJune 2021

BPAN individuals and families are invited to share health information about the disorder on a new, secure platform so that researchers will have access to far more information than would otherwise be possible.

Launched Aug. 6, the RARE-X BPAN Federated Data Platform is designed to encourage data-sharing  and, thus, quicken the spread of information and the pace of research into BPAN. The platform is free for families to use. Importantly, it keeps health information confidential by providing only data that is not attached to individual names. Individuals and families affected by Beta-propeller Protein-Associated Neurodegeneration (BPAN), believed to be the most common NBIA disorder, control whether to allow or deny access to their personal health information for any research project.

RareX PrinciplesRARE-X BPAN asks BPAN families about their experiences with the condition through various structured and standardized surveys on various topics which can be updated by families as needed. A researcher who is studying mitochondria, for example, can do a query for all relevant information on a specific symptom and might find similarities across various diseases that provide insights and new treatment pathways.

The platform is currently open to BPAN families who speak English. Those wishing to participate  can access the site at https://bpan.rare-x.org. Translation services are not yet available, but RARE-X hopes to provide this feature in the coming year. It also plans to add more rare disorders as time goes on.

Our community has gotten in on the ground floor with RARE-X, a newly formed nonprofit, along with five other organizations that represent individuals with BPAN: Hoffnungsbaum e. V. in Germany, Stichting Ijzersterk in the Netherlands, and three BPAN-only focused organizations: BPAN Warriors in the U.S., BPAN France, and Autour du BPAN, also in France.

Rare-X was created by leaders in the fields of patient advocacy, medical research, biopharma and technology. The founder and executive director of the nonprofit is Nicole Boice who founded Global Genes.

Megan O’Boyle, patient engagement lead at RARE-X, spoke at our May family conference about the program (you can see the video here). It has closed captions enabled and can be watched in multiple languages. We are hopeful that other NBIA disorders can be added to the platform in the future.

The initiative is powered by some of the great leaders in rare disease and supported through partnerships with the Broad Institute and Harvard University. In addition, expertise is provided by the National Institutes of Health,  private and commercial enterprises, academia and rare patient advocacy groups.

RARE-X provides support, technology, tools and resources necessary for successful data collection, and secure but open data sharing on a global scale. The organizers believe that by removing barriers to access and analysis, diagnosis, and disease understanding, the development of therapies for rare disorders can be accelerated.

This platform does not replace other forms of data collection that we have available in our NBIA community with BPANready, Citizen and the TIRCON International NBIA Registry & Biobank. In fact, these existing projects can be connected to the RARE-X platform and expand the data available to interested researchers.

We believe RARE-X BPAN enhances our readiness for clinical trials and engages new researchers and biotech companies. It is cloud-based and researchers can query the database in myriad ways to find data that is brought together rather than in separate silos. The de-identified data never leaves the system. Researchers can link to it but cannot download it.

We are excited about this resource and its potential to lead to faster treatments and cures.


Study brings new insights on BPAN defective gene

Dr. Lena F. Burbulla 

Dr. Lena F. Burbulla, of the Biomedical Center
at Ludwig-Maximilians-University in Munich,
received a 2019 BPAN research grant funded by
AISNAF in Italy, Hoffnungsbaum e.V., in Germany,
and the NBIA Disorders Association

June 2021

A recent study of Beta-propeller Protein-Associated Neurodegeneration (BPAN) gained promising preliminary insights in how the defective BPAN gene may cause breakdowns in the cell clean-up process as well as iron accumulation.

BPAN is now believed to be the most common of the NBIA disorders.

The research on the mutated BPAN gene, WDR45, was led by Dr. Lena Burbulla who was working at Northwestern University in Chicago at that time. She received a 2019 grant for 65,000 euros, equal to about $73,000.

The grant was funded by AISNAF in Italy, Hoffnungsbaum e.V., in Germany, and the NBIA Disorders Association. AISNAF managed the grant.

The WDR45 gene is involved in autophagy, a mechanism by which unneeded components of the cells are broken down and recycled. To date, it is not clear how the mutated gene leads to the brain iron accumulation, along with all of the disease features observed in patients with BPAN.

In the study, Burbulla first generated neurons from induced pluripotent stem cells (iPSCs) derived from small flaps of patients' skin. She examined the neurons’ autophagy process, which ultimately leads to the breakdown of proteins in the lysosomes. Lysosomes are organelles, i.e. "small organs" within a cell, and are mainly involved in collecting cell waste and transporting it outside the cell. The lysosomes in BPAN neurons probably have defects and are only able to dispose of proteins and cell organelles to a limited extent. This could also affect iron-binding proteins, among other things.

If confirmed in further studies, it could be a possible explanation for the pathological accumulation of iron observed in the neurons of BPAN patients. When examining the neurons, an accumulation of neuromelanin was also found, which may be due to poor iron regulation. Neuromelanin is, in fact, one of the molecules that can bind iron and typically is present in dopaminergic neurons — the neurons most affected in BPAN.

Another project goal was to create more sophisticated models of the disease. Using the pluripotent stem cells of patients, Burbulla was able to create three-dimensional cellular structures that, although much simpler than the human brain, allowed her to mimic and study the pathology in a system similar to a small brain. Analysis has confirmed that mini-brains contain structures typical of regions of the brain affected by BPAN, and have shown defects similar to those observed in simpler cell models, such as decreased lysosomal enzymes and neuromelanin accumulation.

The project’s third objective was to explore therapeutic strategies. Preliminary results using antioxidant molecules showed a partial improvement in defects in the models. Ultimately, the findings, while preliminary, opens up new and interesting perspectives on the functions of the WDR45 gene.

Burbulla recently moved to the Biomedical Center at Ludwig-Maximilians-University in Munich, where she heads the "oxDOPAMINE" project funded by the European Research Council as part of the SyNergy Cluster of

Excellence. In this project, she will investigate why nerve cells in the midbrain are susceptible to an accumulation of the oxidized neurotransmitter dopamine and subsequently degenerate. Because she suspects that in addition to a defective dopamine metabolism a disturbed iron balance also plays a critical role, she wants to focus on rarer neurodegenerative diseases in addition to the relatively common Parkinson's disease. BPAN research will be included in her work.



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