Learn about how genomics is being used to diagnose intellectual disability, autism, multiple congenital anomalies and epilepsy.
- High Resolution Detection of Copy Number Variation
- Methods to identify biomarkers and copy number variants and how they has improved diagnostic yield for individuals with intellectual disability and its potential for patients with intractable cryptogenic epilepsy.
- Speakers: Dr. Colin Collins and Dr. Michelle Demos
- Methods to identify biomarkers and copy number variants and how they has improved diagnostic yield for individuals with intellectual disability and its potential for patients with intractable cryptogenic epilepsy.
- Microarrays and Findings of Uncertain Significance
- Shows how microarrays have been used to diagnose children with intellectual disability, congenital malformations and autism and methods used by scientists to interpret “variants of unknown significance”.
- Speaker: Dr. Christine Tyson
- Shows how microarrays have been used to diagnose children with intellectual disability, congenital malformations and autism and methods used by scientists to interpret “variants of unknown significance”.
- Neurogenomics – Exome Sequencing for Intellectual Disability
- Discusses the strengths and limits of whole exome sequencing and how it is used to diagnose mendelian diseases and intellectual disability.
- Speaker: Dr. Jan M Friedman
- Discusses the strengths and limits of whole exome sequencing and how it is used to diagnose mendelian diseases and intellectual disability.
- Genomics in the Digital Era – a Tool Towards Treatment
- Overview of treatable genetic disorders which cause intellectual disability and epilepsy, how genomics is being used to diagnose this conditions, and what treatment options are available.
- Speaker: Dr. Clara van Karnebeek
- Overview of treatable genetic disorders which cause intellectual disability and epilepsy, how genomics is being used to diagnose this conditions, and what treatment options are available.
- Diagnostic Dilemmas: Solving Clinical Problems with Chromosomal
Microarray- This session discusses the principles of clinical microarray analysis, how it is being used to diagnose patients and how physicians should use this test in their clinical practice.
- Speakers: Dr. Patrick Macleod, Dr. Gudrun Aubertin, Dr. Patrice Eydoux
- This session discusses the principles of clinical microarray analysis, how it is being used to diagnose patients and how physicians should use this test in their clinical practice.
- Riding the TIDE: Innovating the Diagnostic Approach to Treatable
Intellectual Disabilities- This lecture discusses treatable causes of intellectual disability (ID), and how different approaches and speciality areas, such as genomics, are being used to diagnose ID.
- Speaker: Dr. Clara van Karnebeek
- This lecture discusses treatable causes of intellectual disability (ID), and how different approaches and speciality areas, such as genomics, are being used to diagnose ID.