NBIA NEWS & INFORMATION

April 2022

Dr. Young Ah Seo from the University of Michigan School of Public Health in Ann Arbor, Michigan.

A University of Michigan researcher was awarded a new grant to continue her work into seeking potential treatments for BPAN, now the most common form of NBIA.

Dr. Young-Ah Seo received a one-year grant of $66,366 from the annual Million Dollar Bike Ride. Money raised by NBIA families and friends was matched up to $30,000 by the University of Pennsylvania Orphan Disease Center.

“The overall goal of this project is to develop new therapeutic strategies that can reduce brain iron overload and iron-induced neurodegeneration in BPAN patients,” Seo says. “We previously identified that a naturally occurring small molecule is exceptionally effective at promoting iron mobilization.”

The goal now is to use cell models derived from BPAN individuals to test whether that small molecule can be used to stave off the damage the disorder causes.

Seo completed a study in August 2021, “Defining the Roles of Iron in BPAN,” after receiving a first-ever early-career research grant from the NBIA Disorders Association for $150,000 in 2018.

That study’s objective was to identify the key proteins and pathways that are associated with the brain’s iron accumulation when the WDR45 gene is deficient in individuals with Beta-propeller protein-associated neurodegeneration. The study also examined how neurodegeneration is affected by the altered iron uptake and metabolism.

Seo’s team created a cell model of BPAN without the WDR45 gene, which showed increased levels of iron, suggesting it accurately reflected the condition seen in individuals with BPAN.

Additionally, they observed that the accumulation of iron within the model was linked to an impairment in the process that aims to prevent a dangerous amount of iron from being stored in the brain. Lastly, the deficiency in the WDR45 gene’s protein led to an excess of iron in the mitochondria, altered the mitochondrial metabolism and caused overproduction of toxic reactive oxygen species, which are highly reactive molecules that can lead to cell damage.

The findings of the first study have been published in the Journal of Neurochemistry, titled "A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation."

Seo’s Million Dollar Bike Ride-funded research, titled “Reversing Brain Iron Overload in BPAN by a Natural Small Molecule,” continues the work of the prior grant and aims to develop new therapeutic strategies that can reduce the iron accumulation in the brain and the resulting neurodegeneration in patients with BPAN.

Seo says that she is “very happy to be awarded the BPAN grant,” and is “looking forward to working on this project.” She also says that she plans to apply for a federal grant from the National Institutes of Health to further that research. First, however, she says she needs to wait on “more preliminary data from BPAN animal models as well as the preliminary data from this new grant.”

 

 

April 2022

Amber Denton of Houston is the new vice president of the NBIA Disorders Association.

The NBIA Disorders Association Board of Trustees has elected Amber Denton of Houston to be its new vice president. She is a prolific fundraiser for the organization, chair of the board’s Development Committee and the mother of a daughter with BPAN.

Denton, an instructional specialist in an elementary school, joined the board in fall 2019. She has been raising awareness about NBIA and hosting community fundraising events to support the organization even before becoming a trustee. She helps plan and leads efforts for the organization’s major fundraising events, including Rare Disease Day, the Million Dollar Bike Ride and GivingTuesday.

When her daughter, Sydney, was diagnosed with BPAN, she wrote a book, Sydney’s Song, that described how her daughter communicates with song instead of words.

Matthew Ritzman, board of trustees chair, says that Denton is “considerate, dedicated, organized, respectful and thoughtful. … At every turn she has devoted increasing efforts to our cause. There is nobody in or out of the organization that is better fit for the position of VP than Amber.”

Mary Ann Roser of Austin, former vice president.

Denton succeeds Mary Ann Roser as vice president. Roser joined the board in 1998 and has helped with the newsletter and other writing and editing for the organization.

She stepped down from the board Dec. 31, 2021, but continues to volunteer and edit the newsletter.

Ritzman expressed gratitude for Roser’s work over the years. “I always appreciated [her] commitment to the NBIA Disorders Association” and how she “helped establish the very foundation of this organization and kept us focused,” he said. “I will miss her wit, tenacity, transparency and boldness in our planning and board meetings.”

 

 

April 2022

By Katherine Fox

Kevin and me at one of his Miracle League Games, circa 2010.

The bond between siblings is undeniably special, but being the sibling of someone who has a disability has its own kind of uniqueness. My older brother, Kevin, was diagnosed with PKAN when I was very young. And even as the youngest of three children, I was a close participant in Kevin’s NBIA journey.By age 7, I was much more acquainted with doctor visits and hospitals than my peers. But I also was introduced to an amazing community of people who I otherwise wouldn’t have known.When I was about 10, most of my Friday nights were spent at Kevin’s Miracle League games, a guaranteed bright spot in my week.

It was comforting gathering with others who understood the intricacies of how a family dynamic is shaped when someone has special needs. The sense of community at those events was indescribably special, and I felt extremely lucky to be a part of it. I’ve learned there’s a lot you can’t control when you grow up with a terminally-ill sibling. I couldn’t control how he felt, the status of his health or the available treatment options. It was hard at times, but witnessing Kevin’s never-ending strength and perseverance helped me through it all.At the end of the day, there was nothing better than seeing his huge smile while we watched “Sesame Street” every night. Little moments like that are among my most cherished. When I entered the scary world of high school, Kevin’s smile had the power to make any school stress or drama fade into the background.

Kevin, our sister Madeline, and me on his 20th birthday.

Although I didn’t have much involvement with the NBIA Disorders Association as a child, I knew as I grew older I wanted that to change. As part of my undergraduate degree, I am required to complete an internship with an organization of my choosing. I’ve been fortunate to do that internship with NBIA Disorders Association. It has helped me grow as a writer and learn so much about NBIA, and, in turn, my brother. Now I feel closer to him than ever, and I’m grateful that this educational experience gave me that opportunity.