Summary
Deborah Morris-Rosendahl is the Asmarley Senior Research Fellow in the Molecular Genetics and Genomics Group in the National Heart and Lung Institute. Dr. Morris-Rosendahl obtained her BSc Honours Degree in Zoology with distinction from the University of Cape Town and then the Mammal Research Institute (MRI), University of Pretoria. With the dawn of recombinant DNA technology, she decided to move into the field of Human Genetics in 1983 and completed her PhD in human molecular genetics at the South African Institute for Medical Research and University of the Witwatersrand in 1989. Post-doctoral positions in the MRI, University of Pretoria and Baylor College of Medicine, Houston, Texas, were followed by her move to Germany after being awarded an Alexander von Humboldt Research Fellowship. After two years in in the Institute of Human Genetics in the Free University Berlin, she moved to the University of Freiburg, where she obtained the “Habilitation” in 2003 and headed the Molecular Genetics Diagnostic Division in the Institute of Human Genetics, until moving to London in 2012. As a Consultant Clinical Scientist, Dr. Morris-Rosendahl now heads the Clinical Genetics and Genomics Laboratory in the Royal Brompton and Harefield NHS Foundation Trust.
Dr. Morris-Rosendahl’s research has mostly involved the mapping and identification of new disease genes for both single gene disorders as well as complex neuropsychiatric disorders. Her focus during the last 10 years on neurodevelopmental disorders has led to the identification of novel genes and new genotype-phenotype associations for various disorders of cortical development, as well as to refining the genotype-phenotype correlations for lissencephaly, primary microcephaly and microcephaly syndromes. More recently, her work has led to the identification of new genes for malformations of cerebral cortical development using next-generation sequencing. She will be applying this experience to rare lung diseases, with the aim of identifying genes and pathways that may also be important in common complex respiratory disease, thereby improving the diagnostic and therapeutic possibilities for patients with these disorders.
Selected Publications
Journal Articles
Shoemark A, Griffin H, Wheway G, et al., 2022, Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis, European Respiratory Journal, Vol:60, ISSN:0903-1936
Morris-Rosendahl DJ, Edwards M, McDonnell MJ, et al., 2020, Whole-gene sequencing of CFTR reveals a high prevalence of the intronic variant c.3874-4522A>G in cystic fibrosis., American Journal of Respiratory and Critical Care Medicine, Vol:201, ISSN:1073-449X, Pages:1438-1441
Wallmeier J, Frank D, Shoemark A, et al., 2019, De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry, American Journal of Human Genetics, Vol:105, ISSN:0002-9297, Pages:1030-1039
Hoehe MR, Morris-Rosendahl DJ, 2018, The role of genetics and genomics in clinical psychiatry, Dialogues in Clinical Neuroscience, Vol:20, ISSN:1294-8322, Pages:169-177
Whiffin N, walsh R, Govind R, et al., 2018, CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation, Genetics in Medicine, Vol:20, ISSN:1098-3600, Pages:1246-1254
Borck G, Hog F, Dentici ML, et al., 2015, BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies, Genome Research, Vol:25, ISSN:1088-9051, Pages:155-166
Kakar N, Ahmad J, Morris-Rosendahl DJ, et al., 2015, STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly, Human Genetics, Vol:134, ISSN:0340-6717, Pages:45-51
Liegel RP, Handley MT, Ronchetti A, et al., 2013, Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans., Am J Hum Genet, Vol:93, Pages:1001-1014
McDonell LM, Mirzaa GM, Alcantara D, et al., 2013, Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome., Nat Genet, Vol:45, Pages:556-562
Handley MT, Morris-Rosendahl DJ, Brown S, et al., 2013, Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome., Hum Mutat, Vol:34, Pages:686-696
Issa L, Mueller K, Seufert K, et al., 2013, Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation., Orphanet J Rare Dis, Vol:8
Bisschoff IJ, Zeschnigk C, Horn D, et al., 2013, Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability., Hum Mutat, Vol:34, Pages:237-247