QNRF Newsletter Archive

Hatem El-Shanti: Tackling genetic disease from all sides

Prof. Hatem El-Shanti

Prof. Hatem El-Shanti

Professor Hatem El-Shanti is the Managing Director of Shafallah Medical Genetics Center (SMGC) in Doha, Qatar. As a paediatrician and clinical geneticist, he has a particular interest in the biological mechanisms behind genetic disorders and birth defects in humans. His aim, with QNRF's help, is to make Shafallah a hub for molecular genetic research in human disease in Qatar and beyond.

Having graduated from Cairo University School of Medicine, El-Shanti went on to work in Jordan, the University of Iowa and Indiana University before taking on his role at Shafallah. He has published extensively in academic journals, co-authored a book on Familial Mediterranean Fever and has given keynote speeches at many international conferences. He has served as the Managing Director of SMGC since its launch.

Shafallah Medical Genetics Center was established 5 years ago with the mission of providing high-quality medical genetics and educational services and the pursuit of fundamental knowledge by fostering an active research enterprise. We met with Prof El Shanti recently to discuss how QNRF was helping to realize these goals.

Q: Thank you Prof El-Shanti for agreeing to this interview. Could you start by telling us about some of the work which goes on here at Shafallah?
A: There are two main bodies on the campus here in West Bay which cover basic research and family services. One is the Shafallah Medical Genetics Centre, which I head up, and the other is the Shafallah Centre for Children with Special Needs. It is quite special to have both facilities side-by-side with each other. Together we form a comprehensive center which includes both basic academic research and family services such as counselling, education and childcare advice for parents of children with the diseases we are working on. Children can be educated here and undergo physiotherapy and occupational therapy. Families get help too and researchers can understand more about the issues surrounding genetic disorders. It is a very valuable resource to have in Qatar and one which complements our approach to trying to eradicate some of these diseases.
Ongoing work at SMGC

Genetic research taking place at SMGC

Genetic research taking place at SMGC

Genetic research taking place at SMGC

Q: So what kind of research goes on at SMGC? What are your primary areas of focus?
A: Our primary focus is on human genetic disorders, especially those in children which lead to disability. Specifically we focus on the molecular pathways which result in these genetic disorders. We have projects here which deal with gene discovery and autism, gene discovery and epilepsy as well as identifying disease-causing mechanisms behind cognitive disabilities.
Together with the Al-Noor Institute for the Blind, which also falls under the Shafallah umbrella, we are also investigating the genetic causes of blindness and familial forms of eye disease.

Q: And do you work with other institutions too?
A: Absolutely. We have a very good laboratory set-up here, so we can function as a platform for others who study genetic disorders. We have collaborations with many partners for whom we provide primarily technical support, with the intellectual component coming from outside parties. For instance we work with researchers at Hamad Medical Corporation who are working on genetic disorders which are not a primary interest at Shafallah, but the techniques and approaches are the same. So we provide support to work at HMC on a variety of research projects coverings areas like heart disease, diabetes and obesity. We hope that there may be some insights we gain which will be mutually beneficial to both parties.

Q: Do you think that some of the work you do here may lead to a simple test for something like autism or blindness or any of the other disorders you have mentioned?
A: That is already ongoing. About a year and a half ago our laboratory identified the gene which causes a dislocation of the lens of the eye caused by defects in the gene ADAMTSL-4. Consequently, SMGC became the world center for genetic tests for that disease. Most of the samples for tests originate from outside Qatar and have included New Zealand, Brazil, Argentina, Australia, Europe and the US. Now our diagnostic facility is seeking accreditation from the College of American Pathologists, which will provide our lab with legitimacy in reporting tests not only for research, but also for diagnostic purposes.
El-Shanti with gene sequencing machine

Prof. El-Shanti with the new gene
sequencing machine for SMGC

Prof. El-Shanti with the new gene sequencing machine for SMGC

Prof. El-Shanti with the new gene sequencing machine for SMGC

Q: What are the most recent developments in your labs here?
A: For the first 2-3 years from launch of the center, the research side of things has been concentrated on getting the laboratory to full capacity in terms of staff and equipment and the relevant expertise. In the last year or two, we were comfortable enough to expand, so we have added two components to our existing laboratory structure. The first was a recombinant DNA laboratory where we make recombinant proteins from the genes. This allows us to study the genes we identify, particular the variations and mutations, and see how these affect the protein function.
The second addition is next-generation sequencing, including whole genome sequencing, to identify variations linked to genes. This methodology is still under development right now but we expect to have a solid tool for research before the summer.

Q: How is QNRF helping you and SMGC realize your goals?
A: QNRF has provided us with support for five different projects through the NPRP. The peer review process helped improve the grant applications enormously and eventually lead to success for us. The fact that QNRF funds projects which are already underway is great. In our case it allows us to free up some resources which can in turn be used to benefit families and children living with the diseases we are looking into.

Q: What do you hope or expect for SMGC in the next years?
A: For the first five years or so, we have been spending a large proportion of our time on building up capacity and skills amongst technicians and staff. In the next five years we hope this investment will start to pay off and make SMGC a hub for molecular genetic research in human disease in Qatar. We also want to provide a model for other comprehensive medical genetic centers, providing services alongside high quality research.

Professor El-Shanti, we thank you very much for this interview and wish you well for all your future endeavors.
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