Meeting the Challenge of Rare Disease in the Family: 25 Years of Lessons Learned

Keynote: Albert Freedman, PhD
Founder, Rare Counseling
Albert Freedman, PhD, is a psychologist in independent practice, serving clients and families nationally. Dr. Freedman provides counseling support for patients and families affected by rare disease. He serves as a consulting psychologist to rare disease advocacy organizations and biopharmaceutical companies globally. Dr. Freedman speaks widely on the topic of mental health and rare disease. Al's son, Jack, lived with Spinal Muscular Atrophy (SMA) for 26 years.

Aging with a Homocystinuria

Adam Settle
When Pennsylvania started testing newborns for metabolic diseases. Adam Settle was one of the first to be diagnosed with Cobalamin-C Deficiency. Legally blind, Adam never let his limitations hold him back from accomplishing his dreams. His love for people and his desire to help has allowed him to achieve things others never thought possible. Adam is now an adult who travels the globe independently as a missionary.

Annette Settle
Annettte Settle is a wife, mom, and Nona to 9 children and 20 grandchildren. Her youngest, Adam was diagnosed at birth with Cobalamin C deficiency. Being the 8th child, Annette encouraged Adam's siblings to not treat him any differently than any other child. She believes this mindset has allowed Adam to accomplish many things in his life.

Alex Zarou Levine
Alex Orange Drink is the moniker for Alex Zarou Levine, lead singer & songwriter of The So So Glos.  Alex was diagnosed with HCU in 1987 in New York through newborn screening.  Along with his band, he co-founded the beloved Brooklyn venues Shea Stadium, and Market Hotel, which served as creative hubs for the New York City D.I.Y. artist community. Alex's music is deeply personal in that it confronts his health issues with a unique and playful vulnerability. Because of this, Alex has spoken and performed internationally at various medical conferences, where he has been embraced by the rare disease community. 

Barbara Zarou
Barbara Zarou is a board-certified OB/GYN physician and is a mother to three sons and two step sons. She practiced medicine for 25 years and later became involved in education in which she holds a Masters degree. She currently is employed as a medical specialist for the NYC Office Of School Health. Her middle son, Alexander was born in 1987 with Classical Homocystinuria. The family was fortunate that Alex was born in NY State because at the time Homocystinuria was not included on newborn screening in all states. Being a physician, but knowing very little about the illness except what she had learned in medical school Barbara was, of course, devastated. It became evident at an early age that creating music would help Alex get through the difficult years of living with a chronic illness, so he devoted his life to becoming a singer/songwriter (A/K/A alexorangedrink) Barbara is grateful every day for the way things turned out in regard to his condition. She feels that her other sons also grew up experiencing the issues around Alex’s illness. Each of them was impacted differently by it but all of them have become better people because of it. Barbara finally has time to share her experiences with other parents in an effort to offer reassurance and insight into their struggles and achievements as they navigate through the many aspects of living with a child or children with Homocystinuria. For too many years, the only resource for families was through connecting to PKU organizations so it’s been so exciting to see the growth of HCU Network America and an honor to become involved.

Supporting Students with HCU through School Accommodations

Stephanie A. Hitti, Ph.D.
Neuropsychology Postdoctoral Fellow
Children’s Hospital Colorado
Stephanie Hitti, Ph.D. is a postdoctoral fellow in bilingual/multicultural pediatric neuropsychology at Children’s Hospital Colorado. She received her undergraduate degree in Psychology and Child Development at Vanderbilt University and went on to get her Ph.D. in Child Clinical Psychology from Virginia Commonwealth University. She has specialized training in how the brain develops and uses this training to evaluate and help manage children with health conditions that affect the brain. She grew up in Venezuela and has a special interest in bilingual/multicultural populations. As such, many of the evaluations she conducts are in Spanish.

Making Your Move: Strategies for a Great Transition to Adulthood

Laura Pickler, MD, MPH
Associate Professor
University of Colorado School of Medicine
Early in her medical training, Dr. Laura Pickler became aware that young adults with complex medical needs often experienced suboptimal health and lacked fundamental access to basic primary care services especially as they transitioned to the adult health care system. Over the last 20 years she has worked in diverse ways to improve the health of this patient population. Currently, she is a faculty member at the University of Colorado School of Medicine and uses this role as a platform to improve transition from pediatric to adult health care for young adults with HCU and other genetic conditions.

Traveling with Classical HCU

Danielle Baez
Living with Classical HCU
Patient Advocate, World Traveler

Navigating Low Vision Across the Life Span

Dr. Catherine Smyth (Left)
Independent Research Consultant
University of Utah
Dr. Smyth has provided support for families in early intervention in the area of visual impairment for over thirty years as a teacher of students with visual impairment. Her research interests include concept development and tactual assessments for young children with visual impairment, how vision loss affects the mealtime process, using tele-intervention for EI vision services, and early visual screening for infants.

Kara Hanson, OD, FAAO
Director, Low Vision Rehabilitation Service
Associate Professor
University of Colorado School of Medicine
Dr. Hanson provides functional vision evaluations for children, adults, and seniors with visual impairments at UCHealth Sue Anschutz-Rodgers Eye Center, Children’s Hospital Colorado and Anchor Center for Blind Children. She teaches ophthalmology and optometry residents in the clinical and didactic settings.

08:40 Gregory Bonn MT (ASCP) 

The Future Is Not Just New Disorders: Reviewing, Updating and Education on HCU

Gregory Bonn MT (ASCP)
Newborn Screening Manager
Colorado Department of Public Health and Environment
Gregory (Greg) Bonn MT (ASCP) is the program manager for the Colorado Newborn Screening Program with the Department of Health and Environment (CDPHE). He has been with the program for over 12 years initially working as the molecular technologist during the implementation of Severe Combined Immunodeficiency (SCID). In January of 2022 he officially took on the role of program manager. Prior to coming to CDPHE he worked in hospital laboratories, an organ donation laboratory, and a medical device company. Greg is a native of North Dakota and graduated from North Dakota State with B.S. degrees in Microbiology and Clinical Laboratory Scienc

08:50 Carla Cuthbert

09:00 Robert Harper

A Point of Care-Device for the Determination of Total Homocysteine (tHCY) the HCY Now

Robert Harper, Founder and CEO
In Vitro Diagnostic Solutions
Founded in 2017 to address home monitoring for patients with inborn errors of metabolism (IEMs). IVDS focus IEMs for HCU, PKU, CPK and G6PD.

09:10 Margie McGlynn, R. Ph., HonDr Sci

Update on Classical HCU Research Map

Margie McGlynn, R. Ph., HonDr Sci
Cofounder and President, HCU Network America
Margie McGlynn is Cofounder and President of HCU Network America, and President of the Hempling Foundation for Homocystinuria Research, a fund she established to support research on new therapies in honor of her late sisters. Margie actively supports a chair she endowed at the University at Buffalo, which focuses on state-of-the-art clinical pharmacy care for patients with rare genetic metabolic disorders. Margie received a BS in Pharmacy, an MBA in Marketing, and an Honorary Doctorate in Sciences from the University at Buffalo. She spent 26 years at Merck culminating as President, of Global Vaccines and Anti-infectives, and now serves on the boards of Amicus Therapeutics, Novavax, and University at Buffalo Foundation.

09:25  Sagar A. Vaidya MD PhD

Pegtibatinase, an Investigational Enzyme Replacement Therapy for the Treatment of Classical Homocystinuria due to cystathionine-beta synthase (CBS)-deficiency

Sagar A. Vaidya MD PhD
Vice President
Clinical Development at Travere Therapeutics, Inc.
Dr. Vaidya is a rare disease drug developer and the Vice President of Clinical Development at Travere Therapeutics since 2019. Dr. Vaidya is responsible for overseeing clinical development of the company’s metabolic portfolio of products. Dr. Vaidya previously served in roles in clinical development at Sangamo Therapeutics and BioMarin Pharmaceuticals, and remains deeply committed to developing new treatments for people with rare diseases. Dr. Vaidya completed his Infectious Diseases fellowship at Massachusetts General Hospital, Internal Medicine/Pediatrics residency at Icahn School of Medicine at Mount Sinai Hospital, and received his M.D. and Ph.D. in Molecular Genetics from UCLA

09:35 Thomas J. McCorvie, PhD

Crystallography-based fragment screening to develop pharmacological chaperones for classic homocystinuria

Thomas J. McCorvie, PhD
Senior Research Associate
Newcastle University
Thomas McCorvie is a senior research associate at Newcastle University, UK. He received a PhD based on his work on the biochemical basis of galactosemia from Queen’s University, Belfast. He has had multiple postdoctoral positions at the University of Oxford and Imperial College studying human proteins involved in rare diseases using structural biology. Currently, his interest is in understanding enzymes involved in glycogen storage disorders, homocystinuria, and vitamin B12 metabolism toward developing novel therapies.

09:45 Ken Maclean, PhD

Novel Strategies to Improve Treatment for HCU without Injecting Foreign Proteins: Let me count the ways.

Ken Maclean, PhD
Professor of Pediatrics
University of Colorado School of Medicine Section of Genetics and Metabolism
Dr Ken Maclean is a Professor of Pediatrics at the University of Colorado School of Medicine and holds the Ehst-Hummel-Kaufman Family Endowed chair in Inherited Metabolic Disease. In 1998, Dr Maclean came to Colorado to work on the transcriptional and post-translational regulation of cystathionine beta-synthase (CBS) in the laboratory of Dr Jan Kraus. Since establishing his laboratory in 2002, Dr Maclean's work has centered on using transgenic and knockout/in mouse models to investigate the pathobiology of CBS deficient homocystinuria (HCU), homocysteine remethylation defects, Down Syndrome, propionic acidemia and non-ketotic-hyperglycinemia.

The Maclean laboratory uses transcriptomic, metabolomic, proteomic, and behavioral approaches combined with a range of biochemical and molecular strategies to understand the biological mechanisms that result in the clinical sequelae found in these diseases to develop improved treatments. Dr Maclean recently co-directed an FDA-funded multi-site clinical trial of the use of taurine as a novel treatment for HCU. This treatment resulted in significant improvement in HCU patient endothelial function and constitutes the first advance in treatment for this disease in over 50 years. Dr Maclean is currently working on four different strategies to improve clinical outcomes in HCU with one of them, expected to go into clinical trials in late 2024.

10:00 Brittany Parke, Director of Remethylation Research

The Remethylation Landscape

Brittany Parke
Director of Remethylation Research
HCU Network America
Brittany Parke (Denver, CO) is the mother of two boys born with Homocystinuria Cobalamin G. Drew unfortunately was diagnosed only after suffering from seizures and severe brain atrophy. He sadly passed away at the age of three and a half months. Thanks to early screening measures, Brittany and her husband Robert, knew their son Grayson would also have the same disorder when he was born in 2019. An amazing team from Colorado Children’s Hospital helped her family welcome their little boy and began treatment immediately. Grayson is now five years old and thriving. While he has a mild speech delay, he remains non-symptomatic. 

Brittany serves on the board for HCU Network America and as the Director of Remethylation Research. Her family loves to participate in the annual HCU Race for Research and created a cobalamin awareness t-shirt to fundraise for the research fund. Her background in special education and social work has helped HCU Network America publish a book for children called “Time for A Shot” as well as a special education guide for families. 

10:15 Silvia Vilasi, PhD

How Biophysics enhances our understanding of CblC Disease, suggesting new therapeutic approaches

Silvia Vilasi, PhD
Researcher
Institute of Biophysics, National Research Council (CNR), Italy
Silvia Vilasi is a full-time researcher at the Institute of Biophysics (IBF), National Research Council, Italy. Since completing her Ph.D. in Physics (2002-2005), her research has been primarily focused on employing biophysical methods such as light scattering, spectroscopy, and microscopy to investigate protein folding and misfolding. Specifically, she has delved into the mechanisms through which proteins, when incorrectly folded, aggregate and form amyloid fibrils, leading to severe neurodegenerative diseases. More recently, Vilasi has shifted her focus to studying the protein MMACHC, which is associated with a rare disease called cblC, involving the metabolism of vitamin B12.

10:25 Irini Manoli, MD, PhD

What is the right dose? Hydroxocobalamin dose escalation vs intensification for cobalamin-related disorders.

Irini Manoli, MD, PhD
Clinical Associate Investigator, Senior Research Physician
Metabolic Medicine Branch, NHGRI, NIH
Dr. Manoli combines work on animal models and clinical studies with the aim of developing new therapies for methylmalonic acidemias and defects of intracellular cobalamin metabolism. She studies the pathophysiology underlying disease manifestations to develop biomarkers and clinical outcome parameters that will enable translating experimental genomic therapies from animal models to the clinic. Her clinical research on medical nutrition therapy in MMA and cobalamin C resulted in the re-evaluation of the dietary management of this group of inborn errors of metabolism. She is part of an international collaborative effort to revise the guidelines for the diagnosis and management of cobalamin-related remethylation disorders. https://www.genome.gov/staff/Eirini-Manoli-MD-PhD

11:15 Kimberly Chapman, MD, PhD

Registries and why, as an organization, we care.

Kimberly Chapman, MD, PhD
Attending Geneticist
Children's National Rare Disease Institute
Dr. Kimberly Chapman is an attending physician in Genetics and Metabolism at Children’s National and an Assistant Professor of Pediatrics and Integrated Systems Biology at George Washington University in Washington DC, United States. She specializes in taking care of all ages of individuals with defects of methylation, homocysteine, and propionate metabolism.

Dr. Chapman graduated Summa Cum Laude with a Bachelor of Science in Chemistry and a Bachelor of Arts in Biology from Saint Louis University (St. Louis, MO, US). She then went on to earn a Medical Degree and Doctor of Philosophy from the University of Nebraska (US). Then, she completed internships and residencies in internal medicine and pediatrics at the University of Pittsburgh Health Sciences Center. Finally, she completed residency and fellowship in Clinical Genetics and Clinical Biochemical Genetics at the Children’s Hospital of Philadelphia. Dr. Chapman is US board-certified in Pediatrics, Internal Medicine, Clinical Genetics, and Clinical Biochemical Genetics.

She currently divides her time between clinical responsibilities, clinical research including several patient registries and other clinical trials, and a basic science laboratory which studies the Propionate pathway and Krebs cycle. She firmly believes that clinical care informs bench research and research enhances clinical care. Thus, with collaborators, she is exploring and designing novel therapeutics for a number of metabolic disorders.