#273 ENPP1 Deficiency Disorders with Inozyme

As we delve into the intricacies of ENPP1 Deficiency Disorders, Dr. Yves Sabbagh and Christine O’Brien provide invaluable insights into genetics, diagnostics, treatment, and collaborative efforts between the patient community and pharmaceutical companies. Join us in this illuminating conversation, as we navigate the complexities of GACI and explore avenues for a brighter future in managing these conditions. Yves Sabbagh, PhD, is senior vice president and chief scientific officer, joining Inozyme in October 2020. Dr. Sabbagh brings to Inozyme more than 20 years of experience in rare genetic disorders and mineral metabolism with responsibilities leading to the identification and evaluation of novel therapeutic approaches and translating them into clinical candidates. Prior to joining Inozyme, Dr. Sabbagh served as the head of Rare Renal and Musculoskeletal Diseases research at Sanofi. Prior to that executive role, he held scientific roles of increasing responsibility at Sanofi and Genzyme Corporation spanning endocrine, renal and rare bone diseases including driving the strategy for bone indications. Prior to his corporate experience, he was an instructor at the Harvard Medical School in the Endocrine unit. Dr. Sabbagh has co-authored more than 40 peer-reviewed publications and book chapters and is a member of several scientific societies. Dr. Sabbagh received a BSc in biochemistry from McGill University, an MSc in microbiology from Université Laval and a PhD in biology from McGill University.   Christine O’Brien lives outside of Boston, Massachusetts with her husband Michael and their 3 children.  Her two oldest children are both living with ENPP1 Deficiency.  Her husband and son also have Loeys-Dietz Syndrome.  She is a founding member and co-president of GACI Global, the only patient advocacy group that exists for patients with GACI / ARHR2 caused by ENPP1 Deficiency or ABCC6 Deficiency.  Prior to joining the ranks of medical mamas everywhere who manage therapies, appointments, and medications, she was an elementary school guidance counselor.  Today, in addition to her work with GACI Global, Christine currently juggles raising children with part time jobs as a photographer and the director of customer service at British Swim School of Greater Boston.     Episode Discussion Outline   Exploring the Genetic Causes: - Dr. Sabbagh explains the genetic causes of GACI, shedding light on the involvement of genes such as ABCC6 and ENPP1. - Does the gene involved determine the type of GACI?   Diagnostic Challenges and Genetic Testing: - The necessity of genetic testing for diagnosis and potential programs to offset the cost to patients. - Christine discusses the challenges patients face in obtaining an accurate diagnosis and the impact of the diagnostic odyssey on families.   Symptoms and Challenges Across Lifespan: - Understanding the symptoms of ENPP1 Deficiency Disorders throughout the lifespan and the challenges they pose in disease comprehension. - What signs should healthcare providers be aware of across different specialties?   Understanding PPi and Its Role: - Dr. Sabbagh elaborates on the role of PPi in the body, highlighting differences in individuals with GACI and its implications.   Current Treatment Options and Unmet Needs: - Insights from Dr. Sabbagh on existing treatment options and unmet medical needs in ENPP1 Deficiency disorders.   Partnerships and Collaboration: - Christine provides insights into the partnership approach between patient communities and Inozyme Pharmaceuticals. - How does Inozyme collaborate with the patient community to address challenges?   Hope for the Future: - Dr. Sabbagh discusses INZ-701 and its potential in addressing the challenges associated with GACI. - An overview of the clinical trial program underway for ENPP1 Deficiency treatment.   Future Hopes and Advancements: - Christine shares her hopes for advancements in GACI research, diagnosis, and treatment, emphasizing the importance of continued progress.   Links Mentioned In Episode: Prevention Genetics Genetic Testing Program for ENPP1 and ABCC6   Inozyme Pharma and Rady Children’s Institute for Genome Medicine’s Sponsored Ultra-rapid Whole Genome Sequencing Offered for Select Critically Ill Infant (Including Suspected GACI)   GACI Global Organization   Inozyme    Stay tuned for the next new episode of DNA Today next Friday! 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