Dr. Alice Abdel Aleem Lab
Clinical genetics and genomic studies on neurogenetic and neuromuscular diseases.
Dr A. Aleem's research focuses on uncovering the genetic basis of diseases affecting the central & peripheral nervous system and the large group of neuromuscular disorders in Qatar, as well as applying the results’ outcome into the healthcare system. The translational application of our research involves the primary prevention of diseases and the introduction of new in-house molecular diagnostic tests. We are very much interested in making new discoveries and contributing knowledge in the fields of:
1. Identification of the founder mutations that are specific to Qatari patients having neurogenetic and monogenetic diseases.
2. Genes, commonly underlying these diseases, particularly previously unrecognized genes.
3. The genetic mechanisms that contribute to disease pathophysiology.
4. Proteomic biomarkers in patients and family members’ sera that should help the better understanding of the underlying causes of variability in diseases’ severity and presentations as well as the associated non-neurological symptoms.
5. Clinical and imaging databases for neurogenetic and neuromuscular diseases encountered in our region.
Public education and engagement is one of Dr. A. Aleem's most important activities, together with the collaborative team at Hamad Medical Corporation, Sidra Medicine, and WCM-NY. Her certification as a clinical geneticist has supported this role.
The neurogenetic diseases, in which the lab has invested grant funding, efforts and resources, include:
- Diseases of brain growth (microcephaly and macrocephaly)
- Developmental brain formation (cortical and cerebellar)
- Diseases affecting the corticospinal tract (hereditary spastic paraplegias),
- Congenital dystrophies and primary neuromuscular disorders (lower motor neuron diseases, peripheral neuropathies, neuromuscular junction, and myofibrils).
Major milestones of Dr. A. Aleem's lab
- Genetic sequencing outcomes feed into healthcare diagnostics and counselling
- Genetics training protocol
- Public and patient engagement