Accomplishments

The NBIA Disorders Association was founded in 1996 to support NBIA individuals and their families, educate the public about these rare disorders and raise money for research. We celebrated our 25th anniversary in 2021 and we have accomplished these goals in the following ways:

Family Support

We have held eleven International Family Conferences that have brought NBIA families together from countries around the world. Many had never met another NBIA family before attending our conference. These conferences provide emotional support and also educate the families on the latest research and treatment options, as well as clinical information for their specific NBIA disorder.

We held our 2021 family conference virtually due to the COVID-19 pandemic, and 175 families from 27 countries and 40 states were in attendance. We had over 50 speakers and the conference was packed with activities and opportunities to meet with other NBIA families virtually. Participants overwhelmingly said in their evaluations that the conference was excellent or outstanding and that the length was just right – 4 days for about 5 hours each day.

We have a Networking Program for families so they can reach out for one-to-one contact with others in similar situations. We have Zoom Meetups for our four most common disorders where families can share on a regular basis. We also have a social media presence on Facebook and Twitter for families to connect and receive news, as well as a private Facebook group for NBIA families.

Education & Awareness

We encourage NBIA families to hold fundraisers in their communities to support research initiatives and raise awareness about NBIA disorders. Our families also participate by doing outreach in their communities to educate others about living with an ultra-rare disease.

Our organization participates in Rare Disease Day activities each year to raise awareness and educate the public about living with NBIA. In 2021 our organization was a grand prize winner in the National Organization for Rare Disorders (NORD) 2021 Rare Disease Day contest. Our video had over 15,000 views, 348 Facebook shares and 1,052 likes and comments.

In 2012, the organization in collaboration with the Italian and Germany NBIA nonprofits, funded Best Practices for PKAN to educate clinicians and others on the latest treatment information and knowledge about the second most common form of NBIA. In 2021, two members of our Scientific & Medical Advisory Board published a consensus guideline for BPAN, which is now the fastest growing and most common NBIA disorder.

The organization is a founding member of the NBIA Alliance, a group of NBIA lay advocacy groups around the world whose goal is to educate and raise awareness about NBIA disorders and to encourage new groups to form in other countries. We work together to collaborate on various projects and research funding initiatives. There are currently 10 countries represented in the Alliance.

Fund and Support Research

NBIA Disorders Association has funded over 2.8 million in research since 2002.

One of our main objectives with research funding is to award grants to qualified researchers to initiate pilot studies, the results of which are intended to be used to obtain larger multi-year grant funding. Many of these grants have led to the discovery of NBIA genes and the development of mouse and fruit fly disease models.

We also collaborate with members of the NBIA Alliance to pool our funds and enable larger grants to researchers. In this way we are able to move research forward at a faster pace.

Our NBIA families are a vital part of our research grant funding program, as they are raising the funds that make it possible.

In addition to our grant program, we have contracted with a specific researcher or entity to work on a defined research priority when needed. We sought a new PKAN mouse from a company in Australia. We supported the TIRCON International Patient Registry & Biobank along with our fellow NBIA Alliance members to ensure it continued after a founding grant ended. And we helped fund a FDA CFR Part-11 compliant database for the PKAN CoA-Z clinical trial.

We organized the first two Scientific Workshops on NBIA in 2000 and 2005. In 2000, the workshop brought together researchers for the first time to discuss NBIA. We have also participated in the organizing of the 2010, 2012, 2017 and 2020 Scientific Symposiums that have been an opportunity for the NBIA scientific community to come together and share their work and create collaborations for future research.

2000 Scientific Workshop	2005 Scientific Workshop

In 2009 when the Hayflick Lab at Oregon Health & Science University lost its NIH funding, our organization raised $250,000 in bridge funding to help keep the lab open until other funding was available.

We were one of 13 partners from 2011 - 2015 in the European Union grant called Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON). Nine of the partners were research institutions; one a pharmaceutical company, another a small private non-profit research company and a NBIA German lay advocacy group. The 7.2 million grant financed a clinical trial of deferiprone as an iron chelator, created an international research registry and studied the role of pantethine in pantothenate kinase-associated neurodegeneration (PKAN).

We were one of the founding members of the Genetic Alliance BioBank in 2004 and participated in this registry until 2010. We are now helping to promote and financially support the International NBIA Research Registry set up through the TIRCON grant as the most efficient way to advance NBIA research.

We also support NBIA researchers in their work by publicizing their clinical trials and describing ways NBIA families can support that work. We highlight their research in our newsletters and invite the scientists to speak about their studies at our family conferences.

We are working with a growing group of biotech companies interested in NBIA research as a way to uncover new therapies.

While we are proud of our accomplishments, we are continually working on ways to expand our research program to reach our ultimate goal of cures for all NBIA disorders.

Director

Susan J. Hayflick, M.D., Ph.D.
Professor & Chair
Molecular & Medical Genetics
Professor, Pediatrics and Neurology
Oregon Health & Science University
Portland, Oregon
hayflick@ohsu.edu

Susan Hayflick is a medical doctor and professor as well as Chairman of the Department of Molecular & Medical Genetics at the Oregon Health & Science University in Portland. She also is a professor of pediatrics and neurology.

Dr. Hayflick has been studying NBIA since 1991. Her lab, working with the labs of collaborators discovered the NBIA genes, PANK2, PLA2G6, FA2H, and WDR45. Her research is focused on gaining sufficient understanding of the NBIA disease process to enable the development and testing of new therapies.

The Hayflick lab has received research support from the NBIA Disorders Association, the NIH (NEI, NINDS & NICHD), the Association Internationale de Dystrophie Neuro Axonale Infantile, the Associazione Italiana Sindromi Neurodegenerativi da Accumulo di Ferro, the European Commission, as well as from numerous families from around the world. Hayflick has authored numerous articles about NBIA. She also provides clinical consultation to families and physicians around the world who are caring for people with NBIA.

Board

Penny Hogarth, M.D.
Associate Professor of Neurology and Molecular & Medical Genetics
Oregon Health & Science University
Portland, Oregon
hogarthp@ohsu.edu

Penelope Hogarth, MD, is a neurologist and associate professor at Oregon Health & Science University. She completed medical school and residency training at the University of Colorado. After completing a fellowship in movement disorders and clinical research trial design at the University of Rochester in New York, she relocated to Portland, Oregon. In addition to studying NBIA and PKAN, her research interests extend to Huntington’s disease, Parkinson’s disease, and dystonia. Dr. Hogarth follows adult patients undergoing deep brain stimulation and is an investigator in national studies of Parkinson’s disease and other movement disorders.

Robin Ketteler, Ph.D.
Professor for Biochemistry
Medical School Berlin
Department of Human Medicine
Robin.Ketteler@medicalschool-berlin.de

Dr. Robin Ketteler is currently Professor for Biochemistry at the Medical School Berlin (MSB) and holds an honorary Professorship at University College London. He has been recognized as a leader in high-content biology and CRISPR genome editing, with an emphasis on studying the early steps in autophagy, the natural process by which the body cleans out damaged and redundant 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 induced pluripotent stem cells—a type of skin or blood cell capable of developing into any type of human cell—for disease modeling and drug screening.

Prof. Ketteler received his PhD from the Max-Planck Institute for Immunobiology and Albert-Ludwig University in Freiburg, Germany, and trained as postdoc at Massachusetts General Hospital in Boston before starting his lab at University College London in 2009. In 2022, he moved to Germany and the Medical School Berlin where he continues his work on autophagy and drug discovery. The Ketteler lab has received funding from the NBIA Disorders Association, the University of Pennsylvania Orphan Disease Center’s Million Dollar Bike Ride grant program, as well as from the UK Medical Research Council, the Biotechnology and Biological Sciences Research Council and the Wellcome Trust.

Paul T. Kotzbauer, M.D., Ph.D.
Associate Professor, Dept. of Neurology
Washington University School of Medicine
St. Louis, Missouri
kotzbauerp@neuro.wustl.edu

Paul T. Kotzbauer, MD, PhD, is an assistant professor in the Department of Neurology at Washington University School of Medicine in St. Louis, Missouri, where he completed medical school and earned his doctorate in neuroscience. He received further training in neurology and movement disorders at the University of Pennsylvania. Kotzbauer sees patients in the Movement Disorders Center at Washington University, and his research focuses on Parkinson’s disease and NBIA.

Roberta Leonardi, Ph.D.
Associate Professor, BMM Graduate Co-Director
Department of Biochemistry and Molecular Medicine
West Virginia University, Morgantown, West Virginia
roleonardi@hsc.wvu.edu

Dr. Roberta Leonardi is an associate professor in the Biochemistry and Molecular Medicine (BMM) Department at West Virginia University in Morgantown, where she also co-directs the BMM PhD program.

She has extensive experience in characterizing the biochemical, structural, and regulatory properties of coenzyme A (CoA), as well as the function of enzymes involved in the synthesis and degredation of CoA and its compounds. PKAN, one of the most common forms of NBIA, is caused by an inborn error of CoA metabolism. Leonardi's laboratory uses a combination of biochemical, genetic, and metabolic approaches to study the effect CoA enzymes have on various organs.

A native of Italy, Leonardi received her doctorate in biochemistry from Southhampton University, UK, and trained as a postdoctoral fellow at St. Jude Children's Research Hospital in Memphis, Tennessee, before joining West Virginia University.

Amy Sun MD, PhD, MBA, FACP
Vice-President
Luye Pharmaceuticals, Inc.
Princeton, NJ 08540
ams512@alum.lehigh.edu

Dr. Sun, a Fellow of the American College of Physicians, is Board certified in Internal Medicine with specialty training in Endocrinology and Clinical Pharmacology, and with a Ph.D. in Molecular Pharmacology. Dr. Sun has extensive experience in managing both early and later phase global clinical trials across therapeutic areas, including endocrinology, oncology, women’s health care and cardiovascular diseases. She has contributed to five NDAs/ BLA, numerous INDs, and global regulatory submissions, which lead to the market authorization of a number of therapeutic agents including the first marketed immono-oncology anti PD1 drug, pembrolizumab.

Dr. Sun is VP, Head of Global Clinical Development at Luye Pharma in Princeton, New Jersey. Prior to that she was a senior medical director at Sanofi.

Dr. Sun graduated from SouthEast University Medical School in China, completed her medical residency at Creighton University, and endocrinology fellowship Institutes of Health. She obtained her PhD from Creighton University, and MBA from Lehigh University.

 
Valeria Tiranti, Ph.D.
Molecular Pathology of Mitochondrial Disorders Lab
Unit of Medical Genetics and Neurogenetics
IRCCS Neurological Institute Carlo Besta
Milan, Italy
Valeria.Tiranti@istituto-besta.it

Dr. Valeria Tiranti, PhD, leads the Molecular Pathology of Mitochondrial Disorders lab at the IRCCS Foundation Neurological Institute Carlo Besta in Milan, Italy. This internationally recognized center in neuroscience is involved in diagnosing and treating neurological disorders in adults and children. It also carries out basic and clinical research in neurology.

Tiranti’s expertise is in mitochondrial and metabolic disorders, including identification of disease genes, molecular and cellular biology, and identification of mechanisms that cause disease. Her group has studied various mouse models, including the impact of drug treatments on sick mice. She joined the NBIA field some years ago and is working to define the role of mitochondria in neurodegeneration by studying cellular and animal models.

Tiranti graduated from the University of Milan with a biology degree and a specialization in medical genetics.

Officers

President: Amber Denton

Amber Denton, recently appointed President of the NBIA Disorders Association, brings a wealth of experience and dedication to her leadership role. Previously serving on the Board of Trustees as Vice President and Chair of the Development Committee, Denton has played instrumental roles in advancing the organization's mission since 2019.

Denton actively promotes awareness of NBIA disorders and excels as a fundraiser. Together, the Dentons and local NBIA families have organized events in Houston to combat NBIA since their daughter Sydney's BPAN diagnosis in January 2017. Denton has led crucial fundraising and awareness campaigns, including Rare Disease Day, Million Dollar Bike Ride, and GivingTuesday, securing critical funds and shining a light on NBIA disorders. Additionally, she self-published "Sydney's Song," a children's book dedicated to her daughter, celebrating Sydney's unique form of communication- singing tunes to her favorite songs.

Denton earned a bachelor's degree in Human Development and Family Studies from the University of Houston in 2007. Before devoting herself entirely as President of the NBIA Disorders Association, Denton spent 16 years in elementary education, school leadership, and administration. In her free time, she enjoys spending time with her family, cooking, and cake decorating. The Dentons also have a son, Brady, a wonderful and compassionate big brother to Sydney.

Vice President: Meg Talley Dyer

Meg has been part of the NBIADA community since 2014 when her daughter Dylan was diagnosed with BPAN. In addition to her active role in the community, Meg served on the board from 2016-2021, and is returning to the NBIADA board of trustees as Vice President.

Meg’s professional career includes 20 years in the finance and investment services industry where she and brings experience in financial planning, relationship management, sales, and operational leadership. Beyond Meg’s official role at her firm, she also serves as a leader for their corporate-wide disability employee resource group where she advocates for disability accessibility and inclusion in the workplace.

Meg holds her FINRA series 7, 24, 63, 65, and MSRB 51 licenses and received her MBA from Drexel University. In her spare time, Meg and her husband Matt can often be found chasing Dylan around their neighborhood park or at a Special Olympics event.

Secretary: Matthew Ritzman

For Matt Ritzman and his family, the NBIA Disorders Association was the lifeline they needed after his daughter, Josie, was diagnosed with the PLAN variety of NBIA in February of 2013. The support, stories of hope and the connections to other families, medical professionals and researchers made their NBIA journey much more enjoyable, he says.

Ritzman, who lives in Oakland, Calif., joined the board of trustees in February, 2017.

He is a consultant in the computer-aided facilities management field, which uses software and other technology tools to help manage office space and buildings more efficiently. Ritzman said that in his job he helps “mid-to-large-sized companies find and keep track of all their stuff… like putting together classroom seating charts on a grand scale.”

He is an avid cyclist who said he’d rather be riding with Josie on their special bicycle built for two than doing “just about anything else in the world.” We assume that includes attending scintillating meetings of the NBIADA board.

Treasurer: Carolyn Banik

Carolyn Banik of Indianapolis, Indiana, joined the board in August 2022, six months after her daughter, Madison, 4, was diagnosed with BPAN. Banik had been seeking a support group of families when she found a sense of community with the NBIA Disorders Association. She immediately began networking and fundraising for the organization as Maddie B's Army. In her first year, she raised over $75,000 for BPAN research.

Banik and her husband have lived in various Midwestern cities and have an extensive network, enabling them to raise awareness about BPAN and the NBIA Disorders Association. She has taken her devastation from the diagnosis and turned it into eagerness to advocate for Maddie and others affected by this rare group of disorders. Banik enjoys Sunday dinners with extended family, who live in her neighborhood, walking and exploring with Maddie, organizing, refurbishing things and anything crafty.

Board of Trustees

Board Chair: Sarah Doerr

Sarah Doerr of Minneapolis, Minn., joined the NBIA family in 2018, when her older son Max, then 5, was diagnosed with PKAN, one of the most common NBIA disorders.

Doerr is a lawyer specializing in bankruptcy cases and is a shareholder in a Minneapolis law firm. After Max’s diagnosis, she and her family quickly mobilized to promote awareness of NBIA disorders and to raise funds for PKAN research.

Doerr served on the planning committee for the 2019 NBIA International Family Conference in Charleston, S.C., and joined the NBIA Disorders Association Board of Trustees in August 2019. She considers the NBIA community and individuals living with NBIA disorders to be a constant source of inspiration and intends to use her professional and personal advocacy skills to improve the lives of NBIA families. Doerr says she is hopeful effective treatments are on the horizon.

In her spare time, she can be found playing tennis, enjoying the Minneapolis lakes and chasing her two high-spirited, imaginative sons.

James A. Bourgeois

Dr. James A. Bourgeois lives just north of Austin in Georgetown, which calls itself home to the “most beautiful town square in Texas.” He chairs the Department of Psychiatry at Baylor Scott & White Health’s Central Texas Division. He also is a clinical professor of psychiatry with the health system’s affiliated school, Texas A&M University’s Health Science Center College of Medicine.

A retired Air Force Reserve colonel, Bourgeois earned his medical degree at the federal government’s Uniformed Services University School of Medicine in Bethesda, Maryland. He completed a psychiatry residency at Wright State University in Dayton, Ohio. Over the years, he has held academic appointments at McMaster University (in Canada); the University of California, Davis; Uniformed Services University of the Health Sciences; University of Texas at San Antonio; and University of California, San Francisco.

Bourgeois is married to Kathleen M. Ayers, a doctor of clinical psychology and a faculty member and administrator for The Professional School of Psychology in Sacramento, California. The couple have two grown children, Emile, a mechanical engineer in Seattle, and Germaine, or “Gigi,” who was diagnosed with MPAN, a form of NBIA, in 2017. Gigi works at Brookwood in Georgetown, a highly innovative vocational community for developmentally disabled adults. Bourgeois says that Gigi’s job opportunity sealed the deal for the family’s move from California to Texas.

Jeff Gartman

Jeff Gartman joined the NBIA Disorders Association board in August 2022, about four years after his son Levi, then 6, was diagnosed with Classic PKAN. The family attended the organization’s international conference in 2019 where they met many others who understood their NBIA journey and helped them learn about wheelchairs, feeding support, medicines, treatments and more. Levi died in March 2022, two months shy of his tenth birthday. He was a very happy kid, an entertainer and a fighter. Gartman joined the board to give back to the community.

He works for the Mayo Clinic’s Center for Digital Health as director of Delivery Management and is responsible for web and mobile project delivery and governance. He loves seeing how digital tools can improve a person’s health care experience and previously held leadership positions in digital technology delivery and operations at Cigna and Evernorth.

Gartman is a native New Yorker who now lives in South Windsor, Connecticut, with his wife Danielle, daughter, Lilah (a carrier who is unaffected by PKAN) and goldendoodle, Simba. He holds a degree in Information Sciences and Technology from Penn State, and an MBA from the University of Connecticut. He enjoys traveling, running and spending time with family and friends.

Jennifer Sanchez

Jennifer Sanchez of Houston has served on the NBIA Disorders Association’s Development Committee since fall 2019, and two years later, she joined the organization’s board of trustees. Sanchez has worked energetically with the NBIA Disorders Association and Houston’s BPAN tribe on awareness campaigns and fundraising events to foster a sense of community and collaboration. She believes that when we share our experiences, we are better informed and empowered to navigate the rare disease terrain with greater confidence.

Her daughter, Sophia Madeleine, was diagnosed with BPAN in January 2017 after a 10-year odyssey. During that time, Sanchez learned to be an unapologetically persistent advocate for Sophia. Shortly after her daughter’s diagnosis, Sanchez attended the NBIA Disorders Association International Family Conference in Chicago where her spirits were renewed. She left the conference with a new mission: to work together to find a cure for all NBIA disorders.

Before she became Sophia’s full-time “concierge and chauffeur,” Sanchez worked for 16 years in mortgage operations management as a secondary markets manager. Today she lives with Sophia, her husband, Walter, and their four-legged fur-baby, Thor. In her spare time, Sanchez enjoys mystery novels, dancing, costume design and going for long walks and bike rides with Sophia.

Vanessa VanOost Smith

Vanessa Smith of Hendersonville, Tennessee, first heard about NBIA Disorders Association when her cousin, Madi Mumm, was diagnosed in 2016 with BPAN, now the most common of the NBIA disorders.

Smith graduated from Olivet Nazarene University in 2019 with a bachelor of science in biology. She has a passion for genetics, research and rare disease. She works in newborn screening, but has set her sights on becoming a genetic counselor.

Smith began volunteering with the NBIA Disorders Association in 2018. She attended the 2019 conference in Charleston as a volunteer in the care room. For the past year, she has been contributing articles for the newsletter and helping with an update of the organization’s website. She joined the NBIA Disorders Association Board of Trustees in September, 2021.

She and her husband, Tim, have a 6-month-old daughter, Rosie. In her spare time, she enjoys spending time with her family and taking their dog to the dog park.

Jennifer Wildvank

Jenny Wildvank, a member of the NBIA Disorders Association Development Committee and the organization’s social media director since 2020, joined the board of trustees in September, 2022. She also serves on the planning committee for the organization’s international family conference. Her daughter, Dahlia, was nearly 2 when she was diagnosed with BPAN in May 2019. Wildvank immediately began raising funds for the organization and attended her first family conference that same month.

A resident of Huntington Beach, California, Wildvank is an account manager in the tradeshow industry. She is driven to be an advocate and a voice for her daughter and other individuals with special needs. She and her husband, Branden, also are the parents of Dahlia’s brother, Teddy. Wildvank enjoys traveling, reading, writing and watching soccer, hockey and reality shows. She says she is doing her best to keep shopping malls alive.