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Exon skipping . Common type of pathogenic variant
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Classroom Contents
Clinical Genomics in 2022- From Testing to Treatment
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- 1 Intro
- 2 Objectives • Understand common indications for genetic testing
- 3 Why genetic testing?
- 4 Most common pediatric indications
- 5 Most common adult indications
- 6 Genetics in a pandemic
- 7 MITOCHONDRIAL GENOME SEQUENCING
- 8 Pretest counseling
- 9 ACMG 73
- 10 Limitations of genetic testing
- 11 Whole exome sequencing Overall yield: - 1/3 of cases solved
- 12 2 year old patient
- 13 Patient outcome
- 14 Treating genetic diseases
- 15 Duchenne Muscular Dystrophy
- 16 DMD - genetics
- 17 Exon skipping . Common type of pathogenic variant
- 18 Eteplirsen efficacy
- 19 Single patient trials
- 20 Ocular Gene Therapy
- 21 First Gene Therapy Approved
- 22 Spinal Muscular Atrophy Gene Therapy
- 23 Gene Therapy Clinical Trials
- 24 Summary
