Full course description
Explore the genetic underpinnings of neurodevelopmental disorders, from foundational principles and historical context to advanced clinical applications. This comprehensive course covers psychosocial and ethical considerations, genetic counseling, family history analysis, diagnostic testing, and treatment options. Gain insights into specific conditions such as Angelman Syndrome, Fragile X, and Down Syndrome, and stay informed on the latest advances in pharmacogenomics and epigenetics.
The Genetics Chapter spans 35 topics across five levels of instruction. Levels 1 and 2 provide foundational knowledge beneficial for medical professionals and allied professionals, including educators, social workers, therapists, and psychologists.
Levels 3 to 5 shift to a more clinical focus, offering advanced insights geared toward medical doctors and sub-specialists.
The table below outlines the complete course content.
Chapter Editor
Julie Cohen, ScM, CGC is the Director of Genetic Counseling Services at Kennedy Krieger Institute and an Assistant Professor of Neurology at Johns Hopkins University School of Medicine. She is a licensed, certified genetic counselor with more than 14 years’ experience specializing in neurodevelopmental disorders, neurogenetics, and clinical genomics. In her clinical practice at Kennedy Krieger, Ms. Cohen provides genetic counseling and evaluations for pediatric and adult patients with NDDs and a wide range of rare neurogenetic diseases. Her research focuses on investigating the genetic basis of cerebral palsy and other NDDs, as well as psychological aspects of living with rare and undiagnosed genetic conditions. Ms. Cohen is a dedicated educator and member of the Executive Committee of her alma mater, the JHU/NIH Genetic Counseling Training Program. In addition to training future genetic counselors, she is passionate about educating and empowering healthcare providers to incorporate genetics into their practice.
Content, Featured Experts, and Learner Groups
Level |
Neurodevelopmental Topic Content |
Featured Expert |
Learner Group(s) |
Level 1 |
1.1 Intro to Genetics of Neurodevelopmental Disorders: Why Etiology Matters |
Jacqueline Harris, MD, MS |
Allied professionals |
1.2 Fundamentals of Genetics 1 |
Kelsey Guthrie, MGC, CGC |
||
1.3 Fundamentals of Genetics 2 |
Kelsey Guthrie, MGC, CGC |
||
1.4 Historical Perspective |
Ada Hamosh, MD, MPH |
||
Level 2 |
2.1 Psychosocial considerations and impact |
Rebecca McClellan, MGC, CGC |
Allied professionals |
2.2 Ethical Considerations |
Rebecca McClellan, MGC, CGC |
||
2.3 Legal Issues and Genetic Discrimination |
Rebecca McClellan, MGC, CGC |
||
2.4 Resources for Patients and Families |
Amy Patterson, MS, CGC |
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2.5 Genetic Counseling |
Ben Akman, SCM, CGC |
||
Level 3 |
3.1 Family History and Pedigree 1 |
Kelsey Guthrie, MGC, CGC |
Medical Professionals Sub-Specialist Professionals |
3.2 Family History and Pedigree 2 |
Kelsey Guthrie, MGC, CGC |
||
3.3 Dysmorphology and Physical Exam 1 |
Mahim Jain, MD PhD |
||
3.4 Dysmorphology and Physical Exam 2 |
Mahim Jain, MD PhD |
||
3.5 Overview of Genetic Tests |
Stephanie Riley, ScM, CGC |
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3.6 Exome and Genome Sequencing |
Jane Juusola, PhD, FACMG |
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3.7 Variant Classification |
Jane Juusola, PhD, FACMG |
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3.8 Understanding a Genetic Test Report |
Jane Juusola, PhD, FACMG |
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Level 4 |
4.1 Pre-Test Counseling and Consent |
Alyssa Blesson, MGC, CGC |
Medical Professionals Sub-Specialist Professionals |
4.2 Delivering Genetic Test Results and Diagnoses |
Alyssa Blesson, MGC, CGC |
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4.3 Clinician Resources for Diagnosis and Management |
Ada Hamosh, MD, MPH
|
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4.4 Metabolic Disorders |
Hilary Vernon, MD, PhD |
||
4.5 Treatment of Genetic Disorders 1 |
Hilary Vernon, MD, PhD |
||
4.6 Treatment of Genetic Disorders 2 |
Hilary Vernon, MD, PhD |
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4.7 Family Planning and Reproductive Options |
Cathleen Lawson, MS, CGC |
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4.8 Navigating Insurance Coverage for Genetic Tests |
Chelsea Flanigan, MS CGC |
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Level 5 |
5.1 Pharmacogenomics and PGx testing |
Jim Stevenson, PharmD, MS, BCPP |
Medical Professionals Sub-Specialist Professionals |
5.2 Principles of Epigenetics |
Jacqueline Britton, MGC, CGC |
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5.3 Mendelian Disorders of the Epigenetic Machinery |
Jacqueline Harris, MD, MS |
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5.4 Angelman Syndrome |
Wilfreda LIndsey, MD, MS |
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5.5 Synaptic Disorders |
Constance Smith-Hicks, MD PhD |
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5.6 Fragile X/FMR1 Disorders |
Wilfreda Lindsey, MD, MS |
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5.7 Rett Syndrome |
Constance Smith-Hicks, MD, PhD |
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5.8 Epilepsy Genetics |
Christa Habela, MD, PhD |
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5.9 Tuberous Sclerosis Complex |
Ryan Gill, MD |
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5.10 Down Syndrome |
Clay Smith, MD |
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