Contact information
Pamela Kaisaki
Post-doctoral researcher
Work summary
I perform translational research for patients with rare diseases, testing functional consequences of the patient’s mutations to determine whether they cause the disease. Some of these tests involve using CRISPR/Cas9 methodology to edit the genome of a cell line, which then is assayed to see whether the activity of the gene is altered due to the mutation. Currently, together with collaborators within the CHG, on Old Road campus, and inside and outside the university, we are testing the effect of mutations on genes that may cause rare neurodevelopmental syndromes. Determining the genetic causes of rare diseases can help in treatment decisions, may discover novel pathways involved in the disorder, and could contribute to identifying new/re-purposed medicines for improved treatment of patients.
Recent publications
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Pagnamenta AT. et al, (2023), Genome Medicine, 15
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The clinical relevance of tumor RAS/TP53 dual mutation in early and metastatic colorectal cancer (CRC).
Seligmann JF. et al, (2022), JOURNAL OF CLINICAL ONCOLOGY, 40
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Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma
Winter H. et al, (2019), Cancers, 11, 1895 - 1895
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Conserved properties of genetic architecture of renal and fat transcriptomes in rat models of insulin resistance.
Otto GW. et al, (2019), Disease models & mechanisms, 12
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
Pagnamenta AT. et al, (2019), Clinical Genetics, 95, 693 - 703