by Madaline Spencer | Jun 6, 2025
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. ENPP1 deficiency is a rare metabolic disease...
by Madaline Spencer | Jun 5, 2025
Mike Graglia, Co-Founder & Managing Director of the SynGAP Research Fund and rare disease dad, discusses the current landscape of SYNGAP1-related disorders (SRD). SRDs are a rare genetic developmental and epileptic encephalopathies (DEE)...
by Madaline Spencer | Jun 4, 2025
Jolan Walter, PhD, MD, Division Chief of Pediatric Allergy and Immunology at the University of South Florida, discusses genetic testing for WHIM syndrome. WHIM syndrome is an acronym for a rare immunodeficiency disorder: Each letter represents a...
by Madaline Spencer | Jun 2, 2025
Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). ALSP is a rare genetic, neurological condition largely due to damage to...
by Madaline Spencer | May 30, 2025
The U.S. Food and Drug Administration (FDA) has approved Khindivi (hydrocortisone) oral solution as a replacement therapy in patients five years of age and older with adrenocortical insufficiency. Adrenocortical insufficiency is an endocrine disorder characterized by...
