RARE DISEASE LEARNING CENTERS +++ +...

RARE DISEASE LEARNING CENTERS Rett Syndrome https://checkrare.com/rett-syndrome/ Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome. Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency https://checkrare.com/aromatic-l-amino-acid-decarboxylase-aadc-deficiency/ Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients. AADC deficiency is caused by defect in the dopa decarboxylase (DDC) gene, which leads to a reduction in the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin in the brain. WHIM Syndrome https://checkrare.com/whim-syndrome/ WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. The acronym “WHIM” stands for (W)arts, (H)ypogammaglobulinemia, (I)nfections, and (M)yelokathexis. Myelokathexis refers to an abnormal retention of white blood cells, in the bone marrow, that causes a reduction of immune fighting white blood cells, and most notably the reduction of neutrophils and lymphocytes. Patient Perspective: TUBB4B and The Need for Awareness Makayla Alger, patient advocate with TUBB4B, and her… https://checkrare.com/