Solving Undiagnosed Rare diseases In Saudi Ethnicities (SUNRISE)

Goals of Research Group:
1. Identify novel genetic causes of the undiagnosed rare genetic diseases (URGD) in Saudi Arabia.
2. Provide genetic counseling for families and relatives of patients to avoid recurrence of the disease in those families.
3. Development of an expandable URGD database and commercial gene panel of candidate genes and variants.

Principal Investigator: Dr. Naif Almontashiri

Delineation of genetic defects in autosomal recessive rare neurological disorders

Goals of Research Group:
1. Identification of genetic defects in families segregating autosomal recessive rare neurological disorders.
2. Molecular genetic diagnosis of patients with undiagnosed disease.

Principal Investigator: Dr. Sulman Basit

RareVariant Identification Program (R-VIP)

Goals of Research Group:
1. To identify the prevalence of inherited genetic disease in Saudi Arabia.
2. To identify a novel gene that causes inherited genetic disease
3. To create a molecular diagnostic panel (patent) to diagnose specific inherited genetic disease to a greater extent in Saudi patients.
4. To generate a novel diagnostic assay (patent) to diagnose a specific copy number variant (deletion and duplication).

Principal Investigator: Dr. Fasial Almalki

Rare Human Genetic Disorders

Goals of Research Group:
1. Identification of novel genes involved in RGDs using whole genome SNP genotyping and exome sequencing
2. Detection of correlation between RGDs phenotype, imaging findings, and genetic variants for early diagnosis of RGDs.

Principal Investigator: Dr. Jamil Hashmi

Genetic investigation of Male infertility in Saudi Arabian Population

Goals of Research Group:
1. Developing the facility for male infertility diagnostics that could investigate Y chromosome microdeletions in Arab population from Madinah region.
2. Identification of genetic etiology for male infertility in Saudi Men.

Principal Investigator: Dr. Monis Shamsi

Metabolic Disorders, Molecular Targets, and Drug Discovery (MDMT-DD)

Goals of Research Group:
1. Advancing transformative research on inherited metabolic disorders by integrating molecular target discovery, novel druggable molecules, and biomarker-driven translational science.
2. Uncover molecular pathways central to metabolic disorders and the discovery of novel biomarkers (metabolites).
3. Identifying druggable molecular targets (enzymes, receptors).
4. Integration of metabolic findings with medicinal chemistry (Hit generation)
proposals.

Principal Investigator: Dr. Muhammad Latif