Rare Disease Recognition and Awareness Days By: Jake Ciszewski| Updated on: Jun 6, 2025 +++ +++ +++ +

https://checkrare.com/rare-disease-awareness-days-and-recognition-page/ CLINICAL PERSPECTIVES Digital Voice Analysis as a Biomarker of Acromegaly https://checkrare.com/digital-voice-analysis-as-a-biomarker-of-acromegaly/ A recent study published in The Journal of Clinical Endocrinology & Metabolism analyzed the use of digital voice analysis as a biomarker of acromegaly. Long-term Efficacy of TransCon PTH to Treat Hypoparathyroidism https://checkrare.com/long-term-efficacy-of-transcon-pth-to-treat-hypoparathyroidism/ A new study by Clarke and colleagues published in the Journal of Clinical Endocrinology & Metabolism highlights the safety and efficacy of TransCOn PTH (palopegteriparatide) to treat adults with hypoparathyroidism. Prader-Willi Syndrome: A Caregiver’s Perspective https://checkrare.com/prader-willi-syndrome-a-caregivers-perspective/ Kelly Guillo, Board Member of the Prader-Willi Syndrome Association in Georgia, discusses Prader-Willi syndrome (PWS) from the perspective of a caregiver. 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. 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.