i) Original Research
- “Personalized approach to muscle and neuromuscular genetic disease in Qatar: Paths from clinical genetics and genomics signature research to preventive and precision medicine” (Grant: PPM1-1206-150013 )
- “Hereditary spastic paraplegias (HSPs) in Qatar: Clinical, Genetics and expression study” (Grant: NPRP5- 448-3-118)
- “Brain Growth and developmental genes in Qatar”( NPRP4-099-3- 039)
ii) Collaborative Research
- Genetics and immunogenetics of Epilepsy in Qatar. Sidra Medicine, PI: Dr. Khalid Zamel
- Establishing a monogenic disorder research consortium at WCMQ. WCMQ, PI: Dr. Karsten Suhre
- Genetics and epigenetics of Neural tube defects. WCM, PI: Margaret Ross
1. Clinical ascertainment (Site: HMC)
- History: Pedigree [multiple generations], diseases’ history, family history of similar or related conditions.
- Examination: Dr. Aleem is the clinical geneticist; the team also involves neurologists, radiologists and physiotherapist.
- Relevant Investigations: orders of case-related clinical and imaging investigations
2. Our clinical approach is linked to the construction of clinical databases for the patients' demographic and disease features
3. Whole Genome Sequencing (Site: WCMQ – Genomic Center NY)
We are performing WGS in a family format including DNA of patients, their parents and healthy siblings. Bioinformatics genomic data analysis, using the commercial online tool of IVA.
4. Functional analysis of candidate variants (WCMQ)
Using In-vitro functional assay system (cell lines and primary patients’ tissue “fibroblasts”): the construction of wild and mutant plasmids is regularly performed in the lab to study the impacts of the likely candidate genetic variants on the expression of encoded proteins, associated protein complexes, alteration in subcellular localization, mitochondrial dynamics as well as additional functional assays. Transcriptomic analysis of blood derived RNA and proteins are also of the lab functional assays.