Dr. Musallam Said Al-Araimi, MD, PhD

Dr. Musallam Al-Araimi (MD, DCH, MSc, PhD) from the sultanate of Oman, is a clinical & molecular geneticist and the head of the clinical genetic and education services department in the national genetic center. He is an establishing member of the Omani society of inherited blood disorders and a member of the Oman national committee of the inherited blood disorders. A warded a certificate of merit from the government of Oman in the year 2011 for his novel discovery of a new gene causing a newly introduced recessive inherited childhood blindness phenotype and named it FHONDA syndrome. He won the second best paper in the third MEMBS international conference 2016.

Title of Presentation (1)

A new case of de novo chromosome 19p13.12 deletion in an Omani girl with global developmental delay and multiple congenital anomalies

19p13.12 deletion syndrome is a rare genetic disorder in which a small section of the short arm of chromosome 19 is deleted. It is a newly identified syndrome that is characterized by developmental delay, learning impairment and facial dysmorphism.

We report a 4 year-old Omani girl with 19p13.12 microdeletion syndrome. She was born as full-term to a non-related parents with global developmental delay, hypotonia and dysmorphism. She presented with multiple phenotypic skeletal abnormalities, hypotonia, and facial dysmorphism including frontal bossing, down slanting palpebral fissures, maxillary hypoplasia, bitemporal narrowing, arachnodactyly and strabismus. Skeletal survey radiographs revealed thin long bones and square shaped of some vertebral bodies. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) of the brain were unremarkable. Parents and the older sibling daughter were asymptomatic.

Using array comparative genomic hybridization (CGH) analysis, a novel 1,594 kbp deletion at 19p13.12 was identified with 53 genes on which 35 are OMIM genes. These include NFIX (OMIM #164005), MAN2B1 (OMIM #609458), PROX2 (OMIM # 615094), CACNA1A (OMIM # 601011) and GCDH (OMIM # 608801) that could be responsible for the presented phenotypes (global developmental delay and varies skeletal anomalies). This was found to be a de nova mutation by investigating the parents. We present this patient as the first case reported in Oman and the Gulf region.

Title of Presentation (2)

Genetic Counselling, The integrated educational process

Genetic Counselling is defined as the procedure applied for helping people and families to understand and adapt to the medical, psychological and familial implications of genetic contributions to the disease of concern. In the National Genetic Centre (NGC), the Department of Genetic Counselling and Education has operated a on the job training in genetic Counselling through clinically exposure course work. This course is considered to be the first academic and professional course in genetic counselling to be operated in the region. It has been designed to broaden all candidates with the knowledge about Medical Genetics and the gain insight into the theory that supports the process of genetic counselling. The curriculum consists of nine modules (3 days / 2 months) and includes theory, clinical rotations, and laboratory rotation. The total period of the course is 16 months. The course strives to train candidates to be able to interface between patients, clinicians and medical geneticists. The candidates of the course will gain the skills of genetic counsellors, including technical, ethical and social awareness. There is a need for the graduates of the course in many different areas in the medical profession such as paediatric genetic clinics, cancer medicine, prenatal diagnosis clinics, as well as in laboratory genetics. The aims, objectives and the expected outcome of the course together with other related details will be presented in the conference.