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Genetic perspectives in neuropaediatrics: neurodevelopmental disorders

4.7

Accredited (Credits: 1)
Free
1h 38min
Audio: English +1
Subtitles: English +1

Synopsis

This course provides an introduction to genetics and its relevance to neuropaediatrics, offering perspectives on the limitations of genetic studies and ethical considerations. It also delves into the interpretation of genetic data, clarifying the nomenclature of genetic variants and providing practical strategies for clinical application, culminating in the review of real clinical cases. By participating in this basic course, neuropaediatricians and other interested health professionals will acquire the knowledge and skills necessary to harness the power of genetic studies in the understanding and managing neurodevelopmental disorders. This activity is supported by an independent support grant from Illumina, administered by the Spanish Association of Human Genetics and the Spanish Society of Paediatric Neurology.

Accreditation

This course is accredited with 1 ECMEC credit valid in 26 countries. To claim your credits take the evaluation (satisfaction survey and evaluation questionnaire). You have 3 attempts for the evaluation. You need to pass the evaluation with a sufficient score to validate the course. Your diploma is issued instantaneously and sent to your email.

See more information on the accreditation at: Accreditation

Duration

1h 38min

Target audience

Medical genetics, Neurology, Pediatrics

Authors

Dr. Encarna Guillén Navarro

Encarna Guillén Navarro, MD, PhD, is the president of the Spanish Association of Human Genetics (AEGH). Dr. Guillén is head of service at the Hospital Clínico Universitario Virgen de la Arrixaca and belongs to the University of Murcia and the Instituto Murciano de Investigación Biosanitaria (IMIB-Pascual Parrilla), as well as the Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER-ISCIII.

Conflicts of interests statement:

Encarna Guillén Navarro declares that she has no conflict of interest.

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FAQs

What you will learn

Before you begin

  • Pre-course assessment: please complete to help us personalise your learning experience

Trailer

  • Trailer

Genetics in neuropaediatrics

  • Presentation of the module
  • Basic concepts in genetics
  • Types of genetic diseases
  • Genetic counselling
  • Types of genetic studies
  • NGS. Interpretation of variants
  • Limitations and other considerations
  • Final messages

Challenges and solutions in the interpretation of genetic test results

  • Presentation of the module
  • Limitations of genetic studies
  • Ethical considerations
  • Interpretation of results reports and nomenclature of genetic variants
  • Databases
  • Possible solutions

Genetics and neurodevelopment

  • Presentation of the module
  • General overview of neurodevelopmental disorders
  • Exploring the genetic basis of NDDs and their relevance to neuropaediatric practice
  • How to effectively approach genetic studies in patients with NDDs
  • Final reflections

Presentation and discussion of clinical cases

  • Clinical case 1
  • Clinical case 2

Accreditation - Evaluation

  • Satisfaction survey
  • Multiple-choice test

Register now for free!

Over 100,000 doctors have already joined Xpeer — register now to find out why, and get instant access to this course and many more.

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