program

Scientific PROGRAM

time
08:00am to 09:00am

Registration

time
09:00am to 10:10am

Opening Ceremony

Session 1 – Newborn Screening World Wide
Moderators : Dr. Laila Bastaki, Prof. Bradford L. Therrell

time
10:10am to 10:40am

Newborn Screening Worldwide: What About Molecular Testing?

Prof. Bradford L. Therrell

Abstract
time
10:40am to 11:00am

Newborn screening: Egyptian Experience

Dr. Mona Hafez

time
11:00am – 11:20am

Newborn Screening: an Update

Dr. Osama Aldirbashi

Abstract
time
11:20am – 11:40am

Newborn screening: Kuwait Experience

Dr. May Al-Rushood

Abstract
time
11:40am – 12:00pm

Saudi newborn screening: Challenges and opportunities in the OMIC era

Prof. / Dr. Aida Al-Aqeel

Abstract
time
12:00pm - 12:10pm

Newborn Screening for SMA

Prof. Eduardo Tizzano

time
12:10pm - 12:25pm

Panel Discussion & Coffee Break

Session 2 – Population Genetics
Moderators : Dr. Makia Marafie, Dr. Brian Meyer

time
12:25pm – 12:55pm

Saudi Genome Project

Dr. Brian Meyer

Abstract
time
12:55pm – 01:25pm

Iranian Genome Project

Prof. Hossein Najmabadi

time
01:25pm – 01:45pm

Inherited disorders in Saudi Arabia after NGS Era

Dr. Ahmad Alfares

time
01:45pm – 02:05pm

Population Genetics: Oman Experience

Dr. Anna Rajab

Abstract
time
02:05pm – 02:15pm

Panel Discussion

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02:15pm – 03:00pm

Lunch Break

Session 3 – Pre-implantation Genetic Testing
Moderators : Dr. Amal Alwadaani, Mrs. Alison Lashwood

time
03:00pm – 03:30pm

Pre-Implantation Genetic Diagnosis

Prof. Jose Miravet-Valenciano

time
03:30pm – 04:00pm

Clinical and Ethical Challenges of pre-implantation genetic diagnosis

Mrs. Alison Lashwood

time
04:00pm – 04:25pm

PGS

Dr. Abdulrahman Alserri

Abstract
time
04:25pm – 04:50pm

How pre-implantation genetic diagnosis is practiced in the UK

Mrs. Alison Lashwood

time
04:50pm – 05:10pm

PGT-A and PGT-M

Dr. Mohammad Al-Ali

Abstract
time
05:10pm to 05:20pm

Panel Discussion

time
05:20pm to 05:30pm

Closing Remarks

Session 4 – Update in neuromuscular disorders
Moderators : Prof. J Andoni Urtizberea, Dr. Haya Al-Balool

time
08:00am to 08:30am

Therapeutic options in spinal muscular atrophy: latest developments

Prof. J Andoni Urtizberea

Abstract
time
08:30am – 08:50am
time

Neuromuscular Disorder in Egypt: an overview

Dr. Rasha El Sherif

time
08:50am – 09:10am

Treatment of spinal muscular atrophy (Qatar Experience)

Dr. Tawfeg Ben-Omran

time
09:10am – 09:40am

Duchenne Muscular Dystrophy: Overview, Natural History, and Unmet Needs

Dr. Nahla AlShaikh (Genpharm)

time
09:40am – 09:50am

Panel Discussion

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09:50am – 10:00am

Coffee Break

Session 5 – Management of genetic disorders (part 1)
Moderators : Dr. Maha Mostafa, Dr. Ahmad Alfares

time
10:00am – 10:30am

Novel therapies in Duchenne Muscular Dystrophy

Prof. J Andoni Urtizberea

Abstract
time
10:30am – 11:00am

Life Cycle management of MSUD: from newborn diagnosis to management during pregnancy

Prof. Carmencita David Padilla

Abstract
time
11:00am – 11:20am

DMD ‘Personalized’ Therapeutics: Evidence of Efficacy and Clinical Perspective

Dr. Nahla AlShaikh (Genpharm)

time
11:20am – 11:40am

Initial years of life with CF: Advances in CF management

Dr. Jayachandran Panickar

time
11:40am – 12:00am

The application of whole exome sequencing in the diagnosis of mitochondrial disease in Kuwait

Mr. Ahmad Alahmad

Abstract
time
12:00pm – 12:10pm

Panel Discussion

time
12:10pm – 12:25pm

Coffee break

Session 6 – Metabolic Disorders
Moderators : Prof. Carmencita David Padilla, Dr. Shakir Bahzad

time
12:25pm – 12:55pm

Lysosomal Storage Disorder Newborn Screening: Comparing Performance Of Tandem Mass Spectrometry And Digital Microfluidics Platforms

Dr. David S. Millington

time
12:55pm – 01:15pm

Treatment of Inborn Errors of Metabolism

Dr. Mona Hafez

time
01:15pm – 01:35pm

Treatment of inborn errors of metabolism; the role of laboratory monitoring

Dr. Osama Aldirbashi

Abstract
time
01:35pm – 01:55pm

Treatment of hypercholesterolemia

Dr. Shakir Bahzad

time
01:55pm – 02:15pm

Association between an intronic variant in LPL gene with both obesity and high-density lipoprotein cholesterol

Dr. Ahmad Al-Serri

Abstract
time
02:15pm – 02:25pm

Panel Discussion

time
02:25 - 03:15pm

Lunch Break

Session 7 – Kuwait Medical Genetic Center's Experience
Moderators : Dr. Ahmad Alaqeel, Dr. Abdullah Alhouly

time
03:15pm – 03:35pm

Unusual genotype/phenotype presentation in a family with nephrogenic diabetes insipidus

Dr. Ahmad Alaqeel

Abstract
time
03:35pm – 03:50pm

LAMA2 gene mutations in Kuwaiti families

Miss. Bashayer Duaij

Abstract
time
03:50pm – 04:05pm

Updates on the Genetics of Bardet-Biedl Syndrome in Kuwait

Miss. Reem Al Shammari

Abstract
time
04:05pm – 04:25pm

RNA sequencing to detect gene fusion

Dr. Abdullah Alhouly

Abstract
time
04:25pm – 04:45pm

Excellent lesson learnt from an unusual mutation in a family with Gitelman syndrome

Dr. Ahmad Alaqeel

Abstract
time
04:45pm – 05:05pm

Kuwait birth defect registry

Dr. Ashraf Hosni

Abstract
time
05:05pm – 05:15pm

Panel discussion

time
05:15pm – 05:20pm

Closing Remarks

Session 8 – Precision Health care and Pharmacogenomics
Moderators : Prof. Ann Daly, Dr. Mohammad Al-Ali

time
08:00am – 08:30am

A New CLSI Guideline on Hemoglobinopathy, Newborn Screening and the Results of Two Decades of Screening for Sickle Hemoglobinopathies in the U.S.

Prof. Bradford L. Therrell

Abstract
time
08:30am – 08:50am

Pharmacogenomics of adverse drug reactions

Prof. Ann Daly

Abstract
time
08:50am – 09:10am

Bridging the gap between Precision Medicine and Precision Public Health

Prof. Carmencita David Padilla

Abstract
time
09:10am – 09:30am

Pharmacogenomics of anticoagulant treatment and prospects for clinical implementation

Prof. Ann Daly

time
09:30am – 09:50am

Personalized Medicine

Dr. Massoud Houshmand

Abstract
time
09:50am – 10:00am

Panel discussion

time
10:00am – 10:20am

Coffee Break

Session 9 - Management of genetic disorders (Part 2)
Moderators : Prof. Robert Taylor, Dr. Hanan I. Elbastawisy

time
10:20am – 10:40am

Novel POLG gene contributes to severe intellectual disability

Dr. Anna Rajab

time
10:40am – 11:00am

Gene therapy for Retinitis pigmentosa

Dr. Tareq El Emary

time
11:00am – 11:20am

Sickle Cell Disease Management based on new Proposed Clinical Classification

Dr. Hassan A Al-Jafar

Abstract
time
11:20am – 11:50am

Updates in Mitochondrial Disorders

Prof. Robert Taylor

Abstract
time
11:50am – 12:00pm

Panel Discussion

time
12:00pm – 12:15pm

Coffee Break

Session 10 - Molecular Genetics for Clinicians
Moderators : Prof. Adekunle Adekile, Dr. Alaa Elshafey

time
12:15pm – 12:35pm

Alpha thalassemia alleles in Kuwait

Prof. Adekunle Adekile

Abstract
time
12:35pm – 12:55pm

Molecular Genetics for Clinicians

Dr. Shakir Bahzad

time
12:55pm – 01:15pm

Molecular Genetics of some autosomal recessive disorder in Kuwait

Dr. Alaa Elshafey

Abstract
time
01:15pm – 01:25pm

Panel Discussion

time
01:25pm – 02:25pm

Lunch Break

Session 11 - General Session
Moderators : Dr. Suzanne Al-Bustan, Dr. May Al-Rushood

time
02:25pm – 02:45pm

Syndromic and non-syndromic cases at Kuwait Medical genetic center

Dr. Haya Al-Balool

Abstract
time
02:45pm – 03:05pm

Association of a novel LPL intronic variant g.18704C>A with triglyceride levels identified in Kuwaiti Arabs

Dr. Suzanne Al-Bustan

Abstract
time
03:05pm – 03:25pm

Investigating AR intellectual disabilities genes in Iranian population

Dr. Hossein Najmabadi

time
03:25pm – 03:45pm

Massively parallel NGS to investigate the cis and trans acting genetic modifiers of somatic instability in HD

Dr. Asma Al Shammari

Abstract
time
03:45pm – 04:05pm

Stem Cell Therapy

Prof. Massoud Houshmand

Abstract
time
04:05pm – 04:25pm

A Six-Year Analysis Report by the Cytogenetic Department of Kuwait Medical Genetics Center

Mrs. Muna Alhashemi

Abstract
time
04:25pm – 04:35pm

Panel Discussion

time
04:35pm – 05:00pm

Closing ceremony and Conference recommendations