Melanoma accounts for the majority of the mortality from all types of skin cancers. Five to ten percent of the cases are familial melanoma, yet more than 50% of the melanoma families cannot be explained by established susceptibility genes. By understanding the genetics behind un…
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Insecticide application via indoor residual spraying (IRS) and long-lasting insecticide-treated bednets (LLIN) has been a key component in combating malaria in sub-Saharan Africa, with pyrethroids being the traditionally recommended insecticides. However, the resistance of Anoph…
Background: African Heritage (AH) men have a higher overall incidence, earlier age of onset, more clinically advanced and aggressive disease, higher incidence of metastases and mortality from prostate cancer (CaP) compared to Caucasian men. Biological and genetic factors relatin…
Pancreatic Cancer is one of the lethal cancers in the world with vague symptoms and low survival rates. It is the seventh leading cause of cancer-related deaths in the world and will become the second within 2030 in USA. The five (5) years survival rate for all stages diagnosed …
This thesis describes a new disease encompassing infantile-onset movement disorder (including severe parkinsonism and nonambulation), mood disturbance, autonomic instability, and developmental delay that was identified in eight cousins of a consanguineous Bedouin family in Saudi…
Astrocytes maintain ion and neurotransmitter homeostasis within the central nervous system. They do so by expressing channels, receptors and transporters such as excitatory amino acid transporters (EAATs) along their highly ramified arbours. EAATs are well known to be glutamate …
Mutations in the human and mouse Ostm1/Ostm1 gene result in the most severe form of autosomal recessive osteopetrosis, an inherited hematopoietic bone disorder. We isolated and characterized the Ostm1 gene responsible for the spontaneous murine osteopetrotic gl mutation and func…
Feature selection aims to gain a minimal feature subset in a problem domain while conserving the accuracy of the original data. Feature selection is a process for making more efficient data analysis by selecting more relevant features for the related problem solving. Feature sel…
Cell-free circulating DNA (cfDNA) released from dying cells is emerging as an important tool for the diagnosis of disease. However, the utility of cfDNA is limited in conditions in which involved tissues have a normal genome or unknown mutations. I have developed an approach to …
Tuberous Sclerosis Complex (TSC) is a multisystemic, autosomal dominant genetic disease known to symptomatically impact the entire body usually by developing noncancerous tumors. Although increasing in prevalence, TSC remains widely misunderstood due to its complex molecular str…
Bi-allelic mutations in genes encoding the subunits of the adaptor protein complex 4 (AP-4) complex lead to childhood-onset forms of hereditary spastic paraplegia (HSP). To systematically document the clinical presentation and natural history of AP-4-related HSP we developed an …
Colorectal cancer (CRC) is the third leading cause of death from cancer in both men andwomen in the Western world. Improved screening efforts, surveillance, and treatment havereduced CRC mortality in older patients. However, the incidence is increasing in young adults,even in th…
Hox genes, dubbed the choreographers of animal development, lay out body plans by assigning positional identity to cells. In mammals, Hox genes are organized into compact gene clusters, with genes located close to one another. Due to their evolutionary history, the protein produ…
Moyamoya (MMA) is a progressive cerebral steno-occlusive angiopathy which can lead to strokes. Its natural history derives from adult East Asian cohorts with idiopathic disease. Clinical differences in pediatric, non-Asian and syndromic patients are reported but understudied. Th…
Since their discovery, the BRCA1 and BRCA2 genes have garnered the attention of many, as related news and access to genetic testing became more available to the public. Considering the public’s increasing awareness of breast cancer and access to BRCA genetic testing, individuals…
Atopic dermatitis (AD) is a dermatological disease with symptoms of skin dryness and pruritus, erythema and exudation and lichenification. Although AD is not life threatening, frequent complications such as itchiness, sleep insufficiency, and social embarrassment substantially a…
Across a broad range of species, evolution has modified a common vertebrate body plan to produce endless forms most beautiful. A central goal of evolutionary biology is to understand the nature and extent of genetic patterns underlying adaptive phenotypes. For example, when face…
Evolutionary developmental biology (evo-devo) is the study of trait evolution through variation in development. As early as the modern synthesis, it was recognized that to an understanding of the function of genes during development was critical to understanding evolution as a w…
The evolutionary success of sociality an is evident and the variety of different social behaviours in the natural world is extensive. From the immense and wonderfully coordinated school of fish, the incredible aerial displays of starling murmuration, to the bond between mother a…