NBIA NEWS & INFORMATION

April 2021

Two new members recently joined the NBIA Disorders Association’s advisory group of expert researchers and physicians, while two others say farewell.

Professor Robin Ketteler of University College London, UK.

The newest members of the association’s Scientific & Medical Advisory Board (SMAB) are Professor Robin Ketteler, a researcher-manager of the High-Content Screening Core Facility at the Laboratory for Molecular Cell Biology, University College London, and Dr. Valeria Tiranti, head of the Molecular Pathology of Mitochondrial Disorders lab at the IRCCS Foundation Neurological Institute Carlo Besta in Milan, Italy.

Ketteler has been recognized as a leader in high-content biology and CRISPR genome editing, specializing in the early steps in autophagy, the natural process in which the body's cells clean out any damaged or unnecessary cells. The Ketteler lab is developing therapeutic approaches to target the autophagy pathway in cancer and neurodegenerative disorders. These include the use of patient-derived cells and the use of stem cells for disease modelling and drug screening.

Dr. Valeria Tiranti, of IRCCS Foundation Neurological Institute Carlo Besta in Milan, Italy.

Tiranti’s expertise is in mitochondrial and metabolic disorders, including identification of disease genes, molecular and cellular biology, and identifying the causes of disease. She joined the NBIA field some years ago and is studying the role of mitochondria in neurodegeneration by examining cellular and animal models.

Ketteler and Tiranti replace two dedicated, distinguished SMAB members, Dr. Arnold Strauss and Dr. Suzanne Jackowski, both of whom served as expert advisers from 2016 to 2020. Strauss and Jackowski have retired from their research institutions and stepped down from the board at the end of last year. Strauss was a researcher and professor of pediatrics in cardiology at Cincinnati Children’s Hospital and the University of Cincinnati, and Jackowski was a biomedical scientist and faculty member at St. Jude Children’s Research Hospital. The NBIA Disorders Association board will greatly miss their knowledge and expertise.

For more information about our Scientific & Medical Advisory Board, please see our website:

Scientific & Medical Advisory Board

 

 

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.