• Infantile Neuroaxon
  • 51 Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. (malacards.org)
  • Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. (wikipedia.org)
  • Mutations in the NAGA gene, resulting in alpha-N-acetylgalactosaminidase deficiency, cause an infantile neuroaxonal dystrophy known as Schindler disease. (wikipedia.org)
  • research
  • Presenters are Susan Stein, MPH, a member of the Board of Directors of worldwide patient advocate umbrella organization Global Genes, and Juliet Moritz, MPH, Executive Director of Strategic Drug Development for Rare Diseases at Premier Research. (xtalks.com)
  • She joined Premier Research in 2016 to specialize in rare diseases, supporting the strategic development of products that address unmet medical needs associated with rare and orphan afflictions. (xtalks.com)
  • The company has a wealth of experience in rare disease and pediatric research having managed about 100 projects in each area in the last five years alone. (xtalks.com)
  • brain
  • 66 Neurodegeneration with brain iron accumulation 2A: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. (malacards.org)
  • cause
  • Although the cause of PAP is not entirely understood, a major breakthrough in the understanding of the cause of the disease came by the chance observation that mice bred for experimental study to lack a hematologic growth factor known as granulocyte-macrophage colony stimulating factor (GM-CSF) developed a pulmonary syndrome of abnormal surfactant accumulation resembling human PAP. (wikipedia.org)