NBIA NEWS & INFORMATION

April 2021

- By Cynthia Craig

Levi Gartman, 8, who has PKAN and his sister Lilah, of South Windsor, Connecticut, wear red for PKAN fundraiser.

Organizers of the fundraiser prepare signs to hang up around the school.

Former classmates of eight-year-old Levi Gartman of South Windsor, Connecticut, held a fundraiser in his honor and raised $900 for PKAN research.

Levi was diagnosed with PKAN in late 2018, and the daughter of his special education teacher, who adores Levi and wanted to do something meaningful for him, came up with the fundraiser idea. Levi’s dad, Jeff, who calls his son “the happiest little guy,” said that was one of the sweetest things he had heard in a while.

For the fundraiser, students at Philip R. Smith Elementary School, including Levi’s sister, Lilah, asked everyone to wear red and bring a dollar to school in tribute to Levi. The donations poured in, one dollar at a time.

Meanwhile, our faithful Facebook birthday fundraising volunteers have been busy since January, raising over $6,500 to support our organization. Our hat is off to Diane Anlauf, Daniele Bianchi, Simone Bianco, Jennifer Bolkin Greene, Monika Burzy, Xochitl Galvan Wilson, Luna Ionita, Amber Jones, Dawnie Kennedy, Alison Lea, Connie Mignon Meschbat-Velez, Patricia Ripp, Timmy Smith, Darian Stray, Malgorzata Wista, Gloria Woolard Basista and Andrea Zulawski.

Finally for Rare Disease Day, Feb. 28, our families displayed their unique stripes to have some fun and support our organization. Because the zebra is the symbol for rare disorders, we posted ‘rare zebra sightings’ on our Facebook page. Over 30 NBIA families submitted photos of their rare, loved ones throughout February. In all, they raised $5,000 and celebrated their uniqueness. As Dr. Seuss says, “Today you are You, that is truer than true. There is no one alive who is Youer than You.”

If you are interested in organizing a fundraiser to benefit the NBIA Disorders Association, we are here to help support your efforts. You can find our toolkit online at https://www.nbiadisorders.org/images/FundraisingToolkit.pdf or contact Development Committee Chair Amber Denton at amber12783@yahoo.com for advice and support.

Bhavin Mehta has PKAN and was spotted in Mumbai, India.

Lily Smith has PLAN and was spotted in Fresno, California.

December 2020

- By Amber Denton

Amber and Sydney Denton of Houston, Texas

The fastest growing segment of our NBIA community, BPAN families, gathered virtually Nov. 17 for our first Zoom meeting hosted by NBIA Disorders Association.

With in-person gatherings restricted by the pandemic, we know that building strong relationships with families traveling the same journey is invaluable. Near or far, we are determined to support one another, and most of us have become quite familiar with Zoom.

Families of loved ones who have Beta-propeller Protein-Associated Neurodegeneration from the U.S. and Canada joined the call to catch up with friends, make new friends, ask questions and share stories during the two hour-long session. Families of young BPAN kids gained valuable insight from parents of BPAN adults. We laughed, we cried, we smiled, and we will do it again!

Our goal is to continue NBIA Zoom meetings to offer family support in 2021 and to expand to include meetings for PKAN, PLAN and MPAN in the first quarter of next year. Stay tuned for more information.

October 2020

A lab in Germany investigating the disease mechanisms in Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) received a grant of €151,540 euros ($178,741 USD) from Hoffnungsbaum e.V, the German NBIA patient organization.

This 27-month study will be led by an experienced MPAN researcher, Dr. Arcangela Iuso from the Helmholtz Zentrum München in Munich.

Iuso’s goal is to reveal the cellular function of the C19orf12 gene and the protein it produces. MPAN is caused by a mutation in this gene and understanding how it functions is important to developing potential therapies. Specifically, Iuso and her team hope to understand the protein’s role in lipid metabolism, which is the breakdown of fats within the cell to store energy.

Iuso’s team hypothesizes that the normal functioning of the C19orf12 protein is disrupted, which could lead to an abnormal accumulation of cell products, such as lipids or iron. This can be the cause of the iron accumulation in the brain, a hallmark of NBIA disorders.

Hoffnungsbaum e. V., reports that the research team will include many cooperating scientists, such as Dr. Benjamin Engel at the Helmholtz Pioneer Campus. The organization went on to say that the laboratory will use a new technology called cryo-electron tomography to produce a three-dimensional image of the cells with fine molecular detail. By directly imaging proteins in action, cryo-electron tomography provides molecular insights into cellular processes and thus into disease mechanisms. The Iuso and Engel groups will image cells from MPAN patients, according to Hoffnungsbaum e.V.

Funding for the work was made possible from numerous fundraising campaigns and individual donations to Hoffnungsbaum e. V. Once researchers are able to understand the mechanisms of the disease, they can pave the way for developing treatments for MPAN and other NBIA disorders.

Collaborating partners for the MPAN research team investigating the role of C19orf12 in cell lipid metabolism are from left: PhD student Enrica Zanuttigh of Helmholtz Zentrum München, Dr. Lucia Berti of the Institute for Diabetes Research and Metabolic Diseases of the Helmholtz Center Munich at the University of Tübingen, Dr. Benjamin Engel at the Helmholtz Pioneer Campus in Munich, project leader Dr. Arcangela Iuso, early-career scientist Dr. Tilak Kumar Gupta, and technical assistant Annett Hering from Helmholtz Zentrum Munich. Not pictured: Dr. Sophie Ayciriex from the Institute of Analytical Sciences at the University of Lyon, France.