PAST WINNERS

Medical Award in ASMD - 1st Edition

Sphincs GmBH, Hochheim, Germany - Dr Yasmina Amraoui

• Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges. Mol Genet Metab Rep. 2022 Jul 19:32. doi: 10.1016/j.ymgmr.2022.100900. eCollection 2022 Sep.

Semmelweis University, Budapest, Hungary - Dr Judit Molnar

• Case report: The spectrum of SMPD1 pathogenic variants in Hungary. Front Genet. 2023;14:11581808. Published online 2023 Jun 6. doi 10.3389/fgene.2023.1158108.

Hospital Universitario Ramon y Cajal, Madrid, Spain - Dr Jesus Villarubia

• Acid Sphingomyelinase Deficiency: The diagnostic challenge of genetic imprinting of the SMPD1 gene and its role on genotype-phenotype correlations

Medical Award in ASMD – 2nd Edition

Paracelsus Medical University, Austria – Dr Anna-Maria Wiesinger

• Development of a suspicion index tool to aid diagnosis of ASMD disease

Children's Hospital of Chicago, United States – Rachel Hickey

• Newborn Screening for Acid Sphingomyelinase Deficiency in Illinois: A Single Center’s Experience

Child Welfare Teaching Hospital, Iraq – Dr Mays Al-Tai

• Overview of clinical and laboratory profile of ASMD patients registered in CWTH / Baghdad

North West University, South Africa – Dr Chris Vorster and Dr Alva van der Merwe

• ASMD deficiency in a South African boy: A genetic diagnosis