Global Genes’ Patient and Advocate Initiatives By: Madaline Spencer| Published on: May 9, 2025 +++++ ++++

CLINICAL PERSPECTIVES Efficacy of Atrasentan To Treat Patients With IgA Nephropathy https://checkrare.com/efficacy-of-atrasentan-to-treat-patients-with-iga-nephropathy/ Richard Lafayette, MD, Professor of Medicine, Nephrology and Director of the Glomerular Disease Center at Stanford University Medical Center, discusses the recent approval of Vanrafia (atrasentan) for patients with IgA nephropathy (IgAN). New FDA-Approved C3 Glomerulopathy (C3G) Treatment Targets Underlying Cause of Disease https://checkrare.com/new-fda-approved-c3-glomerulopathy-c3g-treatment-targets-underlying-cause-of-disease/ Carla Nester, MD, Professor of Pediatrics-Nephrology at the University of Iowa, discusses the recent U.S. Food and Drug Administration (FDA) approval of iptacopan as the first and only treatment of adults with C3 glomerulopathy (C3G). Atypical Autosomal Dominant Polycystic Kidney Disease With IFT140 Variants https://checkrare.com/atypical-autosomal-dominant-polycystic-kidney-disease-with-ift140-variants/ This study evaluates the characterization of this atypical phenotype and focuses on 75 patients with ADPKD-like phenotypes with 41 different monoallelic predicted loss-of-function IFT140 variants. Navigating the Challenges of the Orphan Drug Market https://checkrare.com/navigating-the-challenges-of-the-orphan-drug-market/ Johanna Rossell, Senior Vice President and General Manager of Rare Diseases at Sumitomo Pharma America, discusses best practices for navigating challenges of the orphan drug market and provides personal experience through her work with congenital athymia. Mental Health and the Rare Disease Community https://checkrare.com/mental-health-and-the-rare-disease-community/ Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, discusses how industry partners can support the mental health of rare disease communities. Challenges Faced by Rare Disease Patients in India https://checkrare.com/challenges-faced-by-rare-disease-patients-in-india/ Ramaiah Muthyala, PhD, Research Associate Professor at University of Minnesota and President and CEO of Indian Organization for Rare Diseases (IORD), discusses the challenges faced by rare disease patients in India. Global Genes’ Patient and Advocate Initiatives https://checkrare.com/global-genes-patient-and-advocate-initiatives/ Daniel DeFabio, Director of Community Engagement and Education at Global Genes, Co-Founder of Disorder: The Rare Disease Film Festival, and rare disease father, discusses Global Genes’ patient and advocate initiatives. Newborn Screening Update Following RFK’s Removal of Advisory Committee https://checkrare.com/newborn-screening-update-following-rfks-removal-of-advisory-committee/ Dean Suhr, President and co-founder of the MLD Foundation, discusses newborn screening updates and plans for gaining recommended uniform screening panel (RUSP) approval.