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Dr. Farah Bibi

March 07, 2022: 
Till Date


I am working as a Post-doctoral research fellow at Alpha Genomics (PVT) Limited, where my field of interest includes molecular biology procedures that includes DNA extraction, PCR (conventional/gradient/real-time), Gel electrophoresis, UV-visible spectrophotometry (range: 200-1000 nm), fluorometric enzyme assays, fluorescence–based assays, AlphaImager ProteinSimple (Gel documentation system) (chemiluminescence, DNA quantification, Primer designing, Sanger sequencing, Genetics analysis/genotyping, flowcytometry, Protein expression, blotting techniques etc



The dream journey of genetics and epigenetics regarding perfect transition of research
from lab to clinic require the identification of causative gene and the comprehensive insight of underlying pathology for respective disorder. The inherited disorders as encrypted pathologies and presented as the best “human disease models” are definitely enroute to this journey. Breaking the disease code of inherited disorders using rational multidisciplinary approaches will surely not only enhance our understanding of biological processes contributing towards human biology but eventually lead to triangulation of factors that can be manipulated for therapeutic paradigm.

During my MPhil and PhD degrees, I worked on Molecular and cellular basis of human
genetic diseases especially neurodegenerative diseases. During my doctorate degree, I worked on more than twenty different families segregating various types of neurodegenerative diseases. Disease causing genes in the families were searched by genotyping microsatellite markers, SNPs array, whole exome sequencing, whole genome sequencing, and Sanger sequencing. I got a scholarship from Higher Education Commission of Pakistan to visit and work in the University College London (UCL), United Kingdom, where I got expertise in SNP genotype and exome data analysis. I have associated novel mutations in various genes including (HEXA, GJC2, CYP2U1, ZFYVE26, SETX and ATM) causing various types of cerebral/cerebellar Motor Dysfunction Disorders underlying both neurodegenertaion and de/dys myelination.




  • Clinical Biochemistry, Cellular and Molecular Immunology
  • Advanced Experimental Design and Data Analysis, Advances in Biochemistry
  • Integrated Biological Resource Management, Project Planning, Monitoring and Evaluation



• Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., ... & Reutter, H. (2021). Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genetics in Medicine,1-11.

• Bibi, F., Ullah, A., Bourinaris, T., Efthymiou, S., Kriouile, Y., Sultan, T., ... & Raja, G. K. (2021). Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco. Klinische Pädiatrie.

• Ullah, A., Bibi, F., Haider, N., Shahid, G., Mustajab, T., Khaliq, T., & Ahmad, W. (2020). Clinical and genetic characterization of congenital lipoid adrenal hyperplasia. Clinical Dysmorphology, 29(4), 173-176.

• Chen, Z., Yan Yau, W., Jaunmuktane, Z., Tucci, A., Sivakumar, P., Gagliano Taliun, S. A., ... & Houlden, H. (2020). Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of clinical and translational neurology, 7(9), 1716-1725.

• Bibi, F., Haider, N., Din, S. U., Shah, M., Krishin, J., Qayyum, N., ... & Ullah, A. (2020). Sequence variants in three genes underlying leukodystrophy in Pakistani families. International Journal of Developmental Neuroscience, 80(5), 380-388.

• Bibi, F., Efthymiou, S., Bourinaris, T., Tariq, A., Zafar, F., Rana, N., ... & SYNaPS Study Group. (2020). Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia. Journal of the neurological sciences, 411, 116669.

• Vandervore, L. V., Schot, R., Milanese, C., Smits, D. J., Kasteleijn, E., Fry, A. E., ... & Mancini, G. M. (2019). TMX2 is a crucial regulator of cellular redox state, and its dysfunction causes severe brain developmental abnormalities. The American Journal of Human Genetics, 105(6), 1126-1147.

• Wang, H., Kaçar Bayram, A., Sprute, R., Ozdemir, O., Cooper, E., Pergande, M., ... &

Cirak, S. (2019). Genotypephenotype correlations in CharcotMarie-Tooth disease due to MTMR2 mutations and implications in membrane trafficking. Frontiers in neuroscience, 13, 974.