Genetic Landscape of Rare Disease Patients

Analysing a database of 6000+ genetic patients with rare diseases collected since 2013 at London hospitals

Genomic variants represented by the letter “V.” Some are shared among individuals, while others are specific to one person. (Image from )


In this project, we analyse a database of 6000+ genetic patients with rare diseases collected since 2013 at London hospitals.

Identify cases where the disease-causing genetic variants in a patient have been established i.e solved cases by automatically cross-referencing the literature and linking to Pubmed identifiers in our database. Link genetic variants of solved cases to Clinvar identifiers or submit to Clinvar if variants not previously reported. Identify partially-solved cases where the genetic variants do not agree with the expected inheritance pattern for the gene or the disease.

Discover plausible genetic variants which may solve these cases. Attempt to discover novel disease-causing mutations in unsolved patients.

Summarise phenotypic and genetic landscape of a specific disease group. Additional phenotyping may be required and the student will be put in touch with the relevant principal investigators to collect this information. Findings to be published as a review or research article.


  1. Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data. Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, et al. Bioinformatics. Oxford University Press; 2017 Aug 1;33(15):2421-3.
  2. Pheno4J: a gene to phenotype graph database. Mughal S, Moghul I, Yu J, Clark T, Gregory DS, Pontikos N. Bioinformatics. Oxford University Press; 2017 Oct 15;33(20):3317-9.
  3. Phenogenon: Gene to phenotype associations for rare genetic diseases. Pontikos, N., Murphy, C., Moghul, I.,Arno, G., Fujinami, K., Fujinami, Y., Sumodhee, D., Downes, S., Webster, A., Yu, J., & UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium. (2020). PloS One, 15(4), e0230587.
  4. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Pontikos, N., Arno, G., Jurkute, N., Schiff, E., Ba-Abbad, R., Malka, S., Gimenez, A., Georgiou, M., Wright, G., Armengol, M., Knight, H., Katz, M., Moosajee, M., Yu-Wai-Man, P., Moore, A. T., Michaelides, M., Webster, A. R., & Mahroo, O. A. (2020). Ophthalmology, 127(10), 1384-1394.


Nikolas Pontikos

Principal Investigator

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Tianyi Liao

Honorary Research Assistant, Genetics of Human Disease

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We are always eager for hard-working & motivated people to come and work with us.

If you're interested in joining us, please send Nikolas Pontikos a quick email with a CV and personal statement