Genetics & Disability

Sunday, 15 Rajab 1439 AH - 1 April 2018 AD 10:20-12:00 Auditorium 2

Session moderator : Dr Essa Faqeh


1- O-12 : Reducing the burden of disability in Saudi Arabia through genomics

Speaker: Dr Fowzan Alkuraya

Time: 10:20 AM - 10:40 AM

Dr Fowzan S. Alkuraya

Professor of Human Genetics, Al Faisal University

Senior Consultant & Principal Clinical Scientist, King Faisal Specialist Hospital & Research Hospital 

Fowzan Alkuraya is a Professor of Human Genetics at Alfaisal University and a Senior Consultant and Principal Clinical Scientist at King Faisal Specialist Hospital and Research Center.  He graduated with first class honor and was the valedictorian of his class at the College of Medicine, King Saud University, Riyadh, Saudi Arabia.  He did his pediatric residency at Georgetown University Hospital, followed by a fellowship in clinical genetics and another in molecular genetics at Harvard Medical School.  He also did a postdoctoral research fellowship in the area of developmental genetics in the lab of Prof. Richard Maas at Harvard Medical School.  He returned to his native Saudi Arabia to establish the Developmental Genetics Lab at KFSHRC.  He is an authority in the area of Mendelian genetics with more than 330 published manuscripts that describe his lab’s discovery of hundreds of novel disease genes in humans as well as many other seminal contributions to the field of human genetics.  He is a frequently invited speaker at local, regional and international conferences, on the editorial board of prominent human genetics journals, and the recipient of numerous prestigious awards including William King Bowes Award in Medical Genetics and King Salman Award for Disability Research.


Reducing the burden of disability in Saudi Arabia through genomics


Until recently, the magnitude of genetic diseases in Saudi Arabia was only assumed to be significant without actual data to quantify the disease burden.  Indeed, lack of such data was arguably a major reason for the selective inclusion of sickle cell disease and thalassemia in the mandatory premarital screening program, assuming these are the most common recessive diseases in the country.  However, the recent implementation of large scale genomics into the diagnostic workup of individuals with genetic diseases in Saudi Arabia has provided us with a wealth of information regarding the landscape of these diseases and their allelic architecture.  We were able to make the first data-driven estimate of the disease burden of recessive diseases in the country, which revealed an extraordinarily high burden of diseases that cause developmental delay and intellectual disability among Saudi children and the combined carrier frequency of their respective pathogenic alleles rivals that of sickle cell disease and thalassemia.  This calls for a re-evaluation of the current premarital screening program to incorporate this and additional critical information related to the actual disease burden in the country.  Unlike most other countries, we are at a unique position to drastically reduce the burden of genetic diseases in the country through carefully planned expanded carrier screening programs given the overwhelmingly recessive nature of genetic diseases in our country

2- O-13 : Further Molecular Characterization of Hereditary Deafness in Saudi Arabia

Speaker: Dr Faiqa Ahmad

Time: 10:40 AM-11:00 AM

Dr Faiqa Imtiaz

Senior Scientist & Head, First Arabian Hereditary Deafness (FAHD) Unit,

Department of Genetics
King Faisal Specialist Hospital & Research Centre


Dr Faiqa Imtiaz is a senior scientist and section head of the First Arabian Hereditary Deafness (FAHD) unit in the Department of Genetics at KFSH&RC. She obtained her master’s degree in Human Molecular Genetics from Imperial College and her PhD in Genetics and Biochemistry (2002) from the Institute of Child Health at UCL in England. She joined KFSH&RC in 2002 as a post-doctoral fellow and completed two fellowships at the University of California (Irvine) and a three-year Dubai-Harvard fellowship prior to becoming a scientist in 2007. Her research direction includes hereditary deafness, metabolic disorders and concentrates her efforts into characterizing the underlying molecular causes of both in the Saudi Arabian population. She was the Co-Principal Investigator on a 3 year KSCDR funded research project entitled “Role of DFNB1 Locus in Hereditary Deafness in the Saudi Population”.

Her clinical service work is considerable as she is responsible in the design, implementation, analysis and reporting of approximately 150 laboratory-based molecular genetic diagnostic tests that were previously not available in the Kingdom. A number of these tests are now also offered to a number of other hospitals in Saudi Arabia and the Gulf region. The results from these have translated into a large number of prenatal and pre-marital screening, carrier testing, and pre-implantation diagnosis tests. Since 2011, Dr Faiqa is also supervising and signing out on all the prenatal molecular genetic diagnostic testing at KFSH&RC, which includes molecular genetic testing on chorionic villus and amniotic fluid samples received from the Department of OB/GYN at KFSH&RC and a number of other hospitals in Saudi Arabia.

She has co-authored 50 publications in peer-reviewed journals and is very supportive in the training and mentoring of individuals from high school students to medical fellows. Dr Faiqa is keen to collaborate with departments within KFSH&RC and is proud to have collaborations from a number of respected institutions in Saudi Arabia and internationally.

Further Molecular Characterization of Hereditary Deafness in Saudi Arabia

Deafness is the most common sensory deficit in humans with both genetic and
environmental etiologies. It is estimated that the incidence in Saudi Arabia is significantly
higher that of the worldwide rate. Hearing impairment is clinically and genetically
heterogeneous. Impaired auditory function can be the only clinical manifestation (non-
syndromic forms of deafness) or can be associated with other symptoms or anomalies
(syndromic forms of deafness). During the last decade, many deafness loci and the
underlying genes have been identified at a rapid rate.
The major objective of our study is to continue to research and define the genetic basis
of recessive deafness in the Saudi population. To achieve this, we have concentrated
our efforts on families segregating profound congenital deafness with an autosomal
recessive mode of inheritance, using homozygosity mapping and/or Next-Generation
Sequencing Technology.
So far, over 800 patients/family members (150 separate families) have been enrolled in
this project. We have identified a large number of different disease-causing mutations in
60 families. In addition, we have validated an “in house” Hereditary Deafness Gene-
Panel to use for the rapid analysis of a large number of genes known to cause deafness
as a diagnostic tool in the future.

We hope that the most common forms of hereditary deafness, their incidence and
distribution in the Saudi population will be identified as the result from this study and to
provide knowledge and awareness through screening of carrier status and genetic
counseling having an overall major impact upon early intervention for and prevention of
hereditary deafness.

3- O-14 : Prevention of disability due to congenital anomalies

Speaker: Dr Domenica Tarusco

Time: 11:00 AM - 11:20 AM


Dr Domenica Taruscio

Director of the National Centre for Rare Diseases

National Institute of Health (Istituto Superiore di Sanità - ISS, Rome, Italy).


Director of research on rare diseases at the Italian National Institute of Health

She performed her medical degree (Summa cum laude) and specialization in histopathology at Bologna University; post-doctoral studies in human genetics at Yale University (CT-USA); master in bioethics (Sapienza University, Rome).

Author of more than 150 scientific peer-reviewed publications

Co-Chair of the Interdisciplinary Scientific Committee of IRDiRC (www.irdirc.org)

Co-founder of the Undiagnosed Diseases Network International (UDNI, www.udninternational.org)

Scientific leader of the bilateral agreement on rare diseases between ISS-Italy and NIH-USA (since 2003 up to now)

Past President of ICORD - International Conference on Rare Diseases & Orphan Drugs (2010-2012, www.icord.se) and currently ICORD Board Member

She is or has been member of several International (e.g. COMP-EMA, EUCERD) and National Committee (National Plan for Rare Diseases; Italian National Body for European Reference Networks; National Program on Expanded Newborn Screening)

Scientific coordinator of several EU projects (among them: NEPHIRD, EUROPLAN, EPIRARE, RARE-Bestpractices); WP Leader (RD-Connect Registry WP; Advance-HTA, BURQ-OL, E-RARE, EUROCAT Joint Action; EUCERD Joint Action, RD-Action).

Principal Investigator of the bilateral project Italy (ISS)-USA (NIH) "Undiagnosed rare diseases (2015-2018)

Director of the International School on Rare Disease and Orphan Drug Registries


Prevention of disability due to congenital anomalies


Domenica Taruscio, Director of the National Centre for Rare Diseases, Istituto Superiore di Sanità Italy.

Congenital anomalies (CA) are a global health issue affecting around 1 in 33 infants and producing an estimated burden of approximately 3.2 million cases of disability and 270,000 deaths during the first 28 days of life every year (World Health Organization, 2016).

CA can contribute to long-term disability, which may have significant impacts on individuals, families, health-care systems, and societies. A number of risk factors associated with CA (e.g., alcohol drinking, tobacco smoking) also increase the risk of other adverse birth outcomes, such as preterm birth and developmental delays, with an additional burden for community health (Taruscio et al, 2015). Most CA are considered multifactorial diseases, where genetic predisposition interacts with exogenous factors and agents. It is noteworthy that the risk of CA is enhanced in resource-constrained communities, where mothers may have increased and concurrent exposure to imbalanced nutrition, poor environment and lifestyle as well as infections (World Health Organization, 2011). Therefore, CA are a public health issue calling for science-supported primary prevention policies (Taruscio et al, 2015). Since 2013 the European Union has endorsed a body of evidence-based recommendations for CA primary prevention; the recommendations aim at facilitating the inclusion of primary prevention actions in the National Rare Disease Plans of EU Member States (Taruscio et al, 2014). The recommendations deal with drugs, food, lifestyles, maternal health and health services and environmental risk factors (including biological and chemical hazards), thus encompassing different public health fields. The targets can be either specific, high-risk groups (e.g., women with chronic illness needing drug treatment during pregnancy) and/or the whole community (e.g., policies to reduce active/passive smoking). Implementing each recommendation can reduce the incidence of one or more main group of CA; well-established examples include improved folate status and the risk neural tube defects (Taruscio et al, 2011), and avoidance of tobacco smoke and the risk of orofacial clefts and congenital heart disease (Hackshaw et al, 2011). In the case of drugs and chemicals, the pre-marketing toxicity tests required by regulations in industrialized countries aim at minimizing the chance of human exposure to teratogenic substances; nevertheless, epidemiological surveillance is still necessary to identify any unrecognized risk. Overall, CA primary prevention, calling for integrated actions encompassing diverse groups of risk factors, appears a major field for implementing translation of research into public health practice (Rasmussen et al, 2009).  This presentation will discuss specific aspects of the topic (drugs; food; maternal health and health services; infections; environmental chemicals) giving attention to recent developments. Vaccination against rubeola, adequate intake of folic acid and adequate antenatal care are discussed as examples of established approaches for CA prevention.

4- O-15 : An Overview of Retinal Degenerations and Current Treatment Strategies

Speaker: Dr Sawsan Nowilaty

Time: 11:20 AM - 11:40 AM

Dr. Sawsan Rashad NOWILATY

Senior Academic Consultant Ophthalmologist, Vitreoretinal Division

Director of Continuous Medical Education

King Khaled Eye Specialist Hospital


Dr. Nowilaty obtained her Doctorate Degree in Medicine from the Faculty of Medicine in Tunis, Tunisia in1988. She obtained both the Saudi Board of Ophthalmology and the King Saud University (KSU) Fellowship in Ophthalmology Degree, with Vitreoretinal Surgery as her subspecialty, in November 1993.

She was appointed to the King Khaled Eye Specialist Hospital (KKESH) Medical Staff in December 1993, where she has been working as a fulltime physician member of the Vitreoretinal Division until now. She served as Associate Chief of the Vitreoretinal Division from 1997- 2004, and Director of Medical Education from 2005 to 2011.

In addition to patient care, Dr Nowilaty is a full-time teacher, both practical and didactic, to Ophthalmology Residents and Fellows and provides mentorship and supervision of residents and fellows research projects. She’s a regular Saudi Ophthalmology Board examiner. She is also regularly invited to lecture both in Saudi Arabia and abroad including the American Academy of Ophthalmology. Dr Nowilaty’s also organized the Annual Saudi Ophthalmology Symposium from 2005 to 2011 and in 2018.

Dr Nowilaty’s major research interests include diabetic retinopathy, macular telangiectasis, posterior microphthlamos and hereditary retinal degenerations.

She has delivered over 110 scientific presentations, 21 courses, 14 Grand Round Lectures and 47 retinal subspecialty lectures in both local and major international ophthalmology meetings in the USA and Europe. Her publications include two thesis, 34 peer reviewed publications in indexed journals and numerous published abstracts.

Dr Nowilaty is a member of the Saudi Ophthalmologic Society, the American Academy of Ophthalmology, the American Society of Retina Specialists, and the Association for Research in Vision and Ophthalmology.


An Overview of Retinal Degenerations and Current Treatment Strategies


5- O-16 : Intellectual disabilities in KSA and related Syndrome Discoveries

Speaker: Dr Eissa Faqieh

Time: 11:40 AM-12:00 PM

Dr Eissa Faqieh
Director, Medical Genetics Fellowship Training Program KFMC & Saudi Council Level 
Consultant, Pediatric Clinical / Metabolic Medical Genetics
King Fahad Medical City
Dr. Eissa Ali Faqeih, has been a Sub-speciality Consultant  of Pediatric and Medical Genetics from
July 2005 up to present at King Fahad Medical City-Children’s Specialized Hospital.  He is active
researcher in the field of clinical genetics with more than 80 publications. His expertise area is;
Medical Genetics;  birth defects and Inborn Error of metabolism. Genetics diagnosis, testing,
prevention and  intervention. Genetic Counseling and future risk assessment.
Intellectual disabilities in KSA and related Syndrome Discoveries