Trainee Author: Zafar Iqbal, PhD
Researcher
Oslo University Hospital, Oslo, Norway
(Photo courtesy Iqbal)
This multi-investigator exome sequencing project aims to discover pathogenic mutations for autosomal recessive intellectual disability in a unique sample of families from Pakistan that contain consanguineous marriages. It illustrates how population genetics can be mined to pinpoint potentially causal genetic variants for a complex phenotype by using unique samples, state-of-the-art sequencing and bioinformatics methods, as well as open access gene expression databases.
In addition to the scientific findings, the study epitomizes the spirit of international collaboration and diversity.
ASHG: Could you describe your research for us?
Dr. Iqbal: I have been investigating the molecular causes of neurological disorders by high throughput sequencing technologies. I am also exploring the functional role of non-coding DNA to improve molecular diagnosis. In addition, I am devising molecular diagnostic strategies for various neurological disorders.
ASHG: What are your career goals?
Dr. Iqbal: Being a geneticist, my goal is to contribute to the knowledge of molecular genetics that could be used to improve human health. Specifically, I aim to improve genetic diagnosis, ultimately culminating in possible therapeutic interventions.
ASHG: Why did you choose genetics as your field of study?
Dr. Iqbal: As a student of biology, I have been fascinated with understanding how complex processes work in an extremely organized way in a cell. As genetics is the source of this great orchestration, furthering understanding of genetics in health and disease is therefore one of the best ways to disentangle complex systems of a cell.
ASHG: Describe yourself in three words.
Dr. Iqbal: Compassionate, Curious, Enthusiastic.
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