Our main research focus is on elucidating the molecular mechanisms of rare inherited conditions using gene discovery as well as in vitro and in vivo gene editing approaches. We have a longstanding expertise in motile and non-motile ciliopathies and more recently also include non-ciliary renal diseases as well neurodevelopmental conditions.

Major topics of the laboratory are

• Ciliopathies/Laterality defects: We employ state-of-the art next generation sequencing technologies to identify novel disease-causing genes in humans and dissect genotype-phenotype correlations. Further, we generate both Null- as well as hypomorphic loss-of-function models using renal cell lines, chondrocyte precursor cells and zebrafish systems to scrutinize downstream cell signaling networks employing transcriptomics and cilia-specific proteomics approaches. In addition, we utilize small compound screening to identify therapeutic substances for skeleto-renal ciliopathies.

• Rare Disease genetics: Rare diseases together are a frequent cause of chronic illness, disability and reduced life span and often, the underlying genetic defect is unclear, hampering precise personalized clinical care. Exome and genome sequencing has evolved as a cost- and time-efficient tool to elucidate the underlying genetic basis for rare diseases. Our main emphasis lies on ciliopathies, inherited renal diseases and neurodevelopmental syndromes, where we aim to identify novel disease-causing genes and work on genotype-phenotype correlations.

• Molecular mechanism of rare renal diseases: Childhood-onset renal failure is often caused by genetic conditions; however precise mechanisms are poorly understood and no curative treatment is available to date. We employ gene discovery approaches as well as functional in-depth investigation of renal development in vitro and in vivo.

• DFG  SFB1453 Nephgen: https://www.sfb1453.uni-freiburg.de/
• DFG CRC 1597 small data: https://www.smalldata-initiative.de/
• DFG CIBSS Centre for Integrative Biological Signalling Studies: https://www.cibss.uni-freiburg.de/de/
• DFG FOR 5547«Entschlüsselung der Rolle der primären Ziliendynamik in der Gewebeorganisation und –funktion“

• DFG  SFB1453 Nephgen: https://www.sfb1453.uni-freiburg.de/
• DFG CRC 1597 small data: https://www.smalldata-initiative.de/
• DFG CIBSS Centre for Integrative Biological Signalling Studies: https://www.cibss.uni-freiburg.de/de/
• DFG FOR 5547«Entschlüsselung der Rolle der primären Ziliendynamik in der Gewebeorganisation und –funktion“
• Berta-Ottenstein Program
• Spemann Graduate School of Biology and Medicine (SGBM)
• MD Graduate School: MOTI-VATE

ORCID https://orcid.org/0000-0002-1714-6749

• Loges NT*, Antony D*, Maver A, Deardorff MA, Güleç EY, …, Omran H*, Schmidts M*. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet. 103(6):995-1008 (2018). https://doi.org/10.1016/j.ajhg.2018.10.020
• Rehman AU*, Najafi M*, Kambouris M, Al-Gazali L, Makrythanasis P, …, Yang Y*, Schmidts M.* Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.Hum Mutat. Dec 6. doi: 10.1002/humu.23694 (2018). https://doi.org/10.1002/humu.23694
• Paff T*, Loges NT*, Aprea I, Wu K, Bakey Z, …, Schmidts M*, Omran H*, and Micha D*. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet 100, 160-168 (2017). https://dx.doi.org/10.1016%2Fj.ajhg.2016.11.019

• Schmidts M*, Hou Y*, Cortes CR, Mans DA, Huber C, …,Witman GB. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun 6, 7074 (2015). https://doi.org/10.1038/ncomms8074

• Wheway G*, Schmidts M*, Mans DA*, Szymanska K*, Nguyen TT*, …, Johnson CA. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015). https://doi.org/10.1038/ncb3201

Complete list of publications: https://www.ncbi.nlm.nih.gov/pubmed/?term=schmidts+m