​Professor Shahida Moosa, a senior geneticist at Stellenbosch University's (SU) Faculty of Medicine and Health Sciences, is a recipient of the South African Medical Research Council's (SAMRC) Early Investigators Award.

Moosa is an internationally trained clinician-scientist and a senior medical geneticist at Tygerberg Hospital. She combines her knowledge and skills of clinical genomics, bioinformatics, molecular biology and molecular genomics, and leads the Rare Disease Genomics in South Africa research group.

After completing her specialist training at Wits University, she obtained her PhD at the University of Cologne, Germany (summa cum laude), followed by a postdoctoral fellowship at Harvard Medical School and Boston Children's Hospital. She is passionate about bringing genomics to Africa and using these technologies to benefit African patients with rare diseases, especially those who are still undiagnosed.

In 2021, Moosa established sub-Saharan Africa's first Undiagnosed Disease Programme (UDP). The UDP is transforming patient lives, and provides unique opportunities for capacity building and training for the next generation of genomics experts in southern Africa. 

She is currently an associate professor in medical genetics, in the FMHS' Division of Molecular Biology and Human Genetics, and a senior specialist medical geneticist at Tygerberg Hospital.

Award will assist research

The Rare Disease Genomics in South Africa research group uses the latest in genomic technology to find diagnoses for individuals and families with undiagnosed rare diseases. The award will support these activities, specifically by providing funding for the sequencing, which will be done by Africans, for Africans, and on African soil.

The award is for the amount of R500 000 per year for three years. This is the first large national grant she has been awarded since she established this research group. The group has applied for numerous grants, only to be told that “genomics is not a priority for Africa". This funding will allow the group to demonstrate just what a positive and transformative impact genomics can have for African people with rare diseases.

"I am very humbled and pleased that the SAMRC has chosen me for this programme. The funding will benefit people with rare diseases and enable critical capacity building for the wonderful group of young women who make up this research group," says professor Moosa.

"The award also allows for upskilling and networking beyond the division and the university, which is crucial for the introduction of clinical genomics to southern Africa."

Caption: Professor Shahida Moosa

Photo credit: Damien Schumann