Reza Asadollahi

Dr Reza Asadollahi MD, PhD

Senior Lecturer in Genetics

Dr Reza Asadollahi is a Medical Geneticist. He studied Medicine at Shiraz University of Medical Sciences, Iran, and completed his MD-PhD studies at the University of Zurich, Switzerland in 2014 under the supervision of Professor Anita Rauch. During his studies and following fellowships in Switzerland (University of Zurich) and Germany (University of Erlangen-Nuremberg), he has worked and taught in diverse areas of human genetics including clinical genetics and genotype-phenotype correlation, diagnostic cyto- and molecular genetics, mRNA analysis and transcriptomics, genome editing, and in vitro modelling of genetic disorders, as well as public awareness and history of medical genetics.

His work in collaboration with colleagues and patient families has led to the discovery of multiple novel morbid genes causing neurodevelopmental disorders (including MED13L syndrome also known as Asadollahi-Rauch syndrome), clinical/mutational spectra of the disorders, and molecular/functional phenotyping of patient-derived cells. His research aims at improving the molecular diagnosis in patients with rare genetic disorders (with a focus on neurodevelopmental disorders) and unravelling disease pathomechanisms for developing therapeutic approaches.

Dr Asadollahi joined the University of Greenwich in June 2022 as a Senior Lecturer in Genetics, where he continues his teaching and translational research in genetics.

Responsibilities within the university

Teaching, supervision and translational research in genetics.


European Genetics Foundation Award, Bertinoro Di Romagna, Bologna, Italy, 2013

Candoc Research Grant Award, University of Zurich, Switzerland, 2011


Member, Cure MED13L and MED13L Foundation Scientific Advisory Board

Expert Reviewer, Medline Plus Genetics, US National Library of Medicine

Moderator, Human Disease Genes website series (HDG)

Curator, Global Variome shared LOVD database

Member, Swiss MD-PhD Association (SMPA)

Research / Scholarly interests

Dr Asadollahi's main area of research is on translational genomics which aims at improving molecular diagnosis in patients with rare genetic disorders (with a focus on neurodevelopmental disorders) and unravelling disease pathomechanisms for developing therapeutic approaches.

Rare disorders are rare, but patients with rare disorders are numerous. Globally, there are ~300 million people living with rare genetic disorders. Following the advent of high-resolution chromosomal microarrays and next-generation sequencing in the last decade, establishing molecular diagnoses in these patients has considerably increased. Nevertheless, due to the lack of reliable prediction tools, significance of many candidate variants detected by genetic testing remains uncertain. In other words, classifying the candidate variants in either benign or disease-causing category is challenging (diagnostic dilemma). Moreover, there are no effective treatments available for many features of these disorders such as cognitive deficits or refractory seizures.

Dr Asadollahi's research aims at unravelling molecular/cellular signatures in patient-derived samples/cells which reliably correlate with genotype and clinical phenotype of the patients. He studies patient-derived biomedical samples, fibroblasts, iPSCs, and fibroblast/iPSC derived neurons by a variety of assays (e.g., single cell RNA-seq) in order to develop disease-specific signatures. These signatures can then be used to classify genomic variants of uncertain significance, and to explore novel/optimal treatment options in combination with other model systems. He collaborates with clinical and molecular geneticists, scientists and patient foundations/families globally to biobank patient samples and to pursue different research projects.

If you are interested to get involved or collaborate in any part of his research (especially investigating MED13L syndrome), please contact Dr Reza Asadollahi (

Recent publications


Krumm, Laura , Pozner, Tatyana, Kaindl, Johanna, Regensburger, Martin , Günther, Claudia , Turan, Soeren , Asadollahi, Reza , Rauch, Anita , Winner, Beate (2021), Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Elsevier. In: , , , . Elsevier, Stem Cell Research, 56: 102520 ISSN: 1873-5061 (Print), (doi:

Asadollahi, Reza , Britschgi, Christian, Joset, Pascal, Oneda, Beatrice , Schindler, Detlev , Meier, Urs R. , Rauch, Anita (2020), Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene). Wiley Open Access. In: , , , . Wiley Open Access, Molecular Genetics and Genomic Medicine, 8: e1409 (10) 2324-9269 (Online) (doi:

Boonsawat, Paranchai , Joset, Pascal, Steindl, Katharina, Oneda, Beatrice , Gogoll, Laura , Azzarello-Burri, Silvia , Sheth, Frenny , Datar, Chaitanya , Verma, Ishwar C. , Puri, Ratna Dua (2019), Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. American College of Medical Genetics and Genomics - Elsevier. In: , , , . American College of Medical Genetics and Genomics - Elsevier, Genetics in Medicine, 21 (9) . pp. 2043-2058 ISSN: 1098-3600 (Print), 1530-0366 (Online) (doi:

Begemann, Anaïs , Acuña, Mario A., Zweier, Markus, Vincent, Marie , Steindl, Katharina , Bachmann-Gagescu, Ruxandra , Hackenberg, Annette , Abela, Lucia , Plecko, Barbara , Kroell-Seger, Judith (2019), Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. BMC. In: , , , . BMC, Molecular Medicine, 25 (1) ISSN: 1076-1551 (Print), 1528-3658 (Online) (doi:

Popp, Bernt , Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika , Uebe, Steffen , Kohl, Zacharias , Plötz, Sonja , Farrell, Michaela , Trautmann, Udo , Kraus, Cornelia (2018), Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium. Nature Research. In: , , , . Nature Research, Scientific reports, 8: 17201 2045-2322 (Online) (doi:

Asadollahi, Reza , Strauss, Justin E, Zenker, Martin, Beuing, Oliver , Edvardson, Simon , Elpeleg, Orly , Strom, Tim M , Joset, Pascal , Niedrist, Dunja , Otte, Christine (2018), Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Springer Nature. In: , , , . Springer Nature, European Journal of Human Genetics, 26 (2) . pp. 197-209 ISSN: 1018-4813 (Print), 1476-5438 (Online) (doi:

Asadollahi, Reza , Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael , Sticht, Heinrich , Steindl, Katharina , Rauch, Anita (2017), Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Elsevier. In: , , , . Elsevier, European Journal of Medical Genetics, 60 (9) . pp. 451-464 ISSN: 1769-7212 (Print), (doi: