Achille Iolascon
Medical genetics and genomics of human diseases

Iolascon Achille


MD, PhD – Full Professor of Medical Genetics

1972-1978: M.D. University of Naples
1978-1981: Postgraduate school in Pediatrics
1982-1885: Postgraduate school in Oncology
1986: Ph.D. in Pediatrics.

Currently, Achille Iolascon is a full Professor of Medical Genetics at University of Naples “Federico II”, Director of Post-graduate School of Medical Genetics at University Federico II of Naples, director of the Medical Genetics Unit at “Federico II” University/Hospital, and PI of the group of Medical Genetics of diseases of the developmental age at CEINGE - Biotecnologie Avanzate (Napoli).


Since 1983 Prof. Iolascon works in the field of medical and human genetics. His research activity covers a broad range of arguments, ranging from pharmacogenetics, cancer genetics, and rare inherited diseases. In particular, he reached international recognition in the field of genetics of hereditary anemias. Using continuously renewed methods in molecular biology and medical genetics, the group directed by Prof. Iolascon characterized several causative genes of hereditary anemias: SLC4A1, SEC23B, ABCB6, KCNN4, and PIEZO1. His research team is currently an international reference group for the genetics of rare hemolytic anemias, either due to hyporegenerative defects and erythrocyte membrane defects. Scientific output: 317 articles; total citations: 9147, h-index: 49 (SCOPUS).

Research lines
  1. Genetics and genomics of rare anemias (RA). Anemia affects 6 billion people worldwide, about 10% of these individuals are affected by RA of which 80% are hereditary. The pathophysiology of most of RA is poorly understood. The primary aim of this research line is to develop a translational genomics workflow for the differential diagnosis/identification of new loci of these disorders by using custom gene panels, WES, and array-CGH.
  2. Unraveling the pathophysiology of RA and associated hepatic iron overload. To functionally characterize the causative role of new pathogenic/likely pathogenic variants identified by genomic approaches, the research group is currently generating different engineered cellular systems by CRISPR/CAS9 system in both erythroid and hepatic systems.
  3. Targeting erythropoiesis to develop new therapeutic strategies for RA. Emerging therapies for ineffective erythropoiesis include the use of molecules targeting regulator of erythropoiesis. The aims of this research line are: (i) to functionally characterize and select molecules interfering with the key targets in models of ineffective erythropoiesis; (ii) to deliver new candidate molecules for possible clinical development to treat ineffective erythropoiesis.
  4. Genomics of Neuroblastoma (NBL). NBL is pediatric cancer accounting for 15% of childhood cancer mortality. The aim of this research line is the identification of clonally acquired oncogenic aberrations in relapsed disease by WGS and the in vitro functional validation by genome editing.
Research Group
  • Roberta Russo, PhD, Medical Geneticist Assistant professor
  • Immacolata Andolfo, PhD, Medical Geneticist – EHA researcher
  • Francesco Manna, Technician
  • Barbara Eleni Rosato, PhD student
  • Roberta Marra, PhD student
  • Gianluca De Rosa, PhD student
  • Antonella Gambale, MD, Medical Geneticist
  • Flora Cimmino, PhD, Medical Geneticist
  • Annalaura Montella, Biologist
Most relevant publications

1. Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, Caforio P, Pinto V, Pignataro P, Radhakrishnan K, Unal S, Tomaiuolo G, Forni GL, Iolascon A. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Am J Hematol. 2018;93(5):672-682.

2. Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A. Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia. Haematologica. 2016;101(8):909-17.

3 Russo R, Andolfo I, Manna F, De Rosa G, De Falco L, Gambale A, Bruno M, Mattè A, Ricchi P, Girelli D, De Franceschi L, Iolascon A. Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II. Blood. 2016;128(14):1899-1902.

4. Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. 2013 May 9;121(19):3925-35.

5. Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009;41(8):936-40.