Rare Disease Focus: Heart Disease +++ +++ +

CLINICAL PERSPECTIVES Marfan Syndrome: Diagnosis and Management https://checkrare.com/marfan-syndrome-diagnosis-and-management/ David Liang, MD, PhD, Cardiologist at Hoag Hospital, discusses the diagnosis and management of Marfan syndrome. Evolving Policy Landscapes for Rare Disease Access https://checkrare.com/evolving-policy-landscapes-for-rare-disease-access/ Deb Jennings, Head of North America Patient Services Operations at Kyowa Kirin, discusses evolving policy landscapes for rare disease access. The Role of Mental Health in Rare Disease Patient Outcomes https://checkrare.com/the-role-of-mental-health-in-rare-disease-patient-outcomes/ Sumira Riaz, PhD, Health Psychologist & Patient Engagement Consultant at Unboxed Psychology, discusses the role of mental health in rare disease patient outcomes. Disease Severity and Progression in Patients With ENPP1 Deficiency https://checkrare.com/disease-severity-and-progression-in-patients-with-enpp1-deficiency/ Matt Winton, PhD, Senior Vice President and Chief Operating Officer of Inozyme Pharma, discusses results from an analysis characterizing disease severity and progression in patients with ENPP1 deficiency. The Undiagnosed Disease Network https://checkrare.com/the-undiagnosed-disease-network/ Kimberly LeBlanc, Genetic Counselor, Director of the Undiagnosed Diseases Network (UDN) Coordinating Center at Harvard Medical School, discusses approaching variants of uncertain significance in rare diseases. Ethical Concerns in Rare Diseases and Expanded Access Programs https://checkrare.com/ethical-concerns-in-rare-diseases-and-expanded-access-programs/ Alison Bateman-House, PhD, Assistant Professor Division of Medical Ethics at NYU Grossman School of Medicine, discusses ethical concerns in rare diseases and expanded access programs. The Diversity of Patient Advocacy Group Initiatives https://checkrare.com/the-diversity-of-patient-advocacy-group-initiatives/ Connie Lee, PsyD, Chief Executive Officer of Alliance to Cure Cavernous Malformations, discusses cerebral cavernous malformation (CMM) and the diversity of patient advocacy group initiatives.