Dr. Paul Orchard is the Medical Director of the Inherited Metabolic and Storage Disease Program and a Professor in the Department of Pediatrics in the Division of Blood and Marrow Transplant & Cellular Therapy (BMT & CT) at the University of Minnesota. He is interested in using hematopoietic stem cell transplantation (HSCT) and other cell therapies, including gene therapy, to improve outcomes. In addition to his clinical work with patients with inherited metabolic diseases, Dr. Orchard is engaged in research designed to identify strategies that enhance the delivery of enzymes to the brain and the peripheral nervous system for patients who lack specific enzymes. Other interests include the modification of stem cell transplant approaches and combination therapies to improve outcomes for patients with inherited diseases and the potential to develop multi-institutional cooperative studies for these disorders. Listen to a leading expert in saving the lives of children every day, including Dr. Amy Brower's son.

If you need a boost of inspiration, a bit of laughter, and a lot of intention, listen to our special guest on the Newborn Screening SPOTlight podcast Effie Parks, who transformed her experiences raising a son with a rare disease to helping others by sharing their stories on her podcast, Once Upon a Gene. The best way to describe Effie may be as the rare disease parent’s best friend… and greatest resource!

She was born in Montana, where she was raised with her 12 siblings. After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she immersed herself into the world of advocacy. Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world.

Interview Questions:

You are the host of podcast of Once Upon a Gene, where you speak to others about their journey through life with rare disease. Your mission is to learn, lift voices of the community, connect people to resources and to leave this world better than you found it for others in the rare disease world. What inspired you to start your podcast?

1. Your baby was diagnosed with a rare disease called CTNNB1 syndrome. Can you tell us what led to the diagnosis and what happened next?

1. Researchers discovered the genetic testing for CTNNB1 syndrome. While there is no single treatment for CTNNB1 Syndrome, each of the symptoms associated with the syndrome may be treated. Also, CTNNB1 gene is a good candidate for genetic replacement therapy. This exciting to hear the new development and research in treatments. Could you share your process in caregiving to your child with CTNNB1 syndrome? Any advice for new moms?
2. Newborn screening identifies metabolic and genetic disorders at birth. Before your child was diagnosed with CTNNBI, were you aware of newborn screening?
3. What do you think prospective parents should know about newborn screening?
4. You are the host of Once Upon A Gene podcast, can you tell us what inspired to start the podcast?
5. On your Once Upon a Gene blog, you shared that the movie “Back to Future” and especially the main cast member, Michael J. Fox have inspired you. Can you elaborate in what ways to our listeners?
6. What has been going on in your life recently that you expected and didn’t expect?
7. As you know NBSTRN creates tools and resources to help stakeholders to advance newborn screening research. How could NBSTRN and other organizations such as the Rare Diseases Clinical Research Networks supported by the National Center for Advancing Translational Sciences (NCATS) help you and your community to advance rare disease awareness?
8. Where can people go to learn more about you? What can people expect from you next?
9. What is one final thought that you want to leave our listeners with?
10. What does newborn screening research mean to you?

Join us on the Newborn Screening SPOTlight podcast with Dr. Jerry Vockley, who is a Professor of Human Genetics, the Graduate School of Public Health, Cleveland Family Endowed Pediatric Research, School of Medicine, Chief of Genetic and Genomic Medicine, UPMC Children’s Hospital of Pittsburgh, and Director of the Center for Rare Disease Therapy, UPMC Children’s Hospital of Pittsburgh.

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 320 peer-reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr. has an active clinical research program and participates in and consults on multiple gene therapy trials.

Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is a Fellow in the American Association for the Advancement of Science. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is founder and chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD).

On this podcast, Dr. Vockley shares his career journey and personal stories about the impact of newborn screening research on physicians, families, and advocates.

Interview Questions:

1. Among your many appointments, you serve on the Board of the American College of Medical Genetics and Genomics (ACMG) and advise on efforts to improve health through the practice of medical genetics and genomics. In addition to the ACMG board, you were integral in the early and current days of the NBSTRN. Can you tell us how you got involved in NBSTRN?
2. As technologies to screen, diagnose, treat, and manage disease advance and increasingly use sequencing, can you share with our listeners your vision of how sequencing will be used in newborn screening in the future? What excites you about this potential, and can you share any concerns?
3. You have published over 320 peer-reviewed scholarly articles and led many efforts funded by NIH and others. Can you describe the key findings from your most recent publication, “Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.”
4. You are the Cleveland Family Endowed Pediatric Research, School of Medicine Professor of Human Genetics, Graduate School of Public Health, and the Director of the Center for Rare Disease Therapy, UPMC Children’s Hospital of Pittsburgh. In your article titled “Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease,” you mentioned that the movement from the basic science laboratory to clinical trials is still hampered by a regulatory system rooted in traditional trial design and requires a fresh assessment of safe ways to obtain approval for new drugs. You proposed the development and scaling of nucleic acid-based therapies. Could you share this possibility with our listeners and what challenges need to be overcome to deliver them safely with appropriate evaluation and long-term follow-up?
5. Can you share any stories of inspiration that keep you going?
6. Anything else you’d like to share?
7. Thank you for your efforts in conceptualizing the NBSTRN and establishing a network of stakeholders that includes health professionals, researchers, state programs and families, and advocates. Do you have advice for this community and how they can help to realize and capitalize on the fifteen years of NBSTRN?
8. You are involved in training the new generation of medical geneticists. What do you tell them about newborn screening research?
9. What does NBS research mean to you?