Molecular & Genomic Diagnostics Conference

Overview:

The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease.  

The translation of the emerging data and concepts to the clinical setting is an exciting area for development for the molecular pathology community and will be addressed in this conference 

Key topics:

• Rapid whole genome sequencing in NICU settings
• Long read sequencing
• Genetic counselling in the Middle East
• Clinical applications of long-read sequencing 
• Ultra-rapid Nanopore whole genome sequencing in a critical care setting 
• Complex structural variation in a complete human genome 
• Rapid whole genome sequencing of critically ill paediatric patients from genetically underrepresented populations 
  

Benefits of attending:

• Evaluate rapid whole genome sequencing of critically ill paediatric patients 
• Review genetic counselling in the Middle East 
• Discuss clinical applications of the Qatar whole genome sequencing program
  
• Identify rare pathogenic variants detected by microarray in children with developmental delay 
  

Chair:

• Dr Ahmad Abou Tayoun, Director, The Al Jalila Children’s Genomics Centre; Associate Professor, Genetics, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE 
  

 Activity Director:  

• Dr Ziad Peerwani, Medical Director, Cleveland Clinic Laboratories, Pathology & Laboratory, Medicine Institute-PLMI, Cleveland Clinic, Cleveland, Ohio, USA 

Speakers: 

• Prof Danny E. Miller, Associate Professor, Institute for Stem Cell and Regenerative Medicine, Seattle Children’s Hospital, and the University of Washington School of Medicine; Seattle, Washington, USA 
  
• Prof Evan E. Eichler, Principal Investigator, Howard Hughes Medical Institute; Professor of Genome Sciences, University of Washington, Seattle, Washington, USA 
  
• Dr Ismail Said, Director - Qatar Genome Program, Qatar Foundation, Doha, Qatar 
  
• Dr John E. Gorzynski, Life Science Research Professional, Department: Medicine - Med/Cardiovascular Medicine, Stanford University, Stanford. California, USA 
  
• Nour Halabi, Molecular Biology Technologist, Al Jalila Children's Specialty Hospital, Dubai, UAE 
  
• Shruti Shenbagam, Genetic Counsellor, Al Jalila Children’s Specialty Hospital, Dubai, UAE