103 Genes, Inherited Diseases and Pregnancy

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All human diseases are, to some degree, influenced by genetics 1. The recent pandemic has proved that genetic variation in the human genome is able to influence the susceptibility and severity of disease 2 – that is, how likely you are to get it and how severe it is when you do. In the same vein, not only COVID-19, but all manner of diseases are affected by human genetics. Common complex diseases such as cancer, cardiovascular disease, diabetes, autoimmune disorders, some psychiatric illnesses all pose family or genetic history as one of the strongest risk factors for the likelihood of these diseases 3; which is why medical diagnoses often begin with a full assessment of your family’s medical records.

Rare diseases are diseases that are most commonly caused by genetic mutations and are found in less than 5% of the global population. Rare diseases present themselves in different types of pathologies such as cancers, cardiovascular diseases, and even some non-communicable inherited diseases like Alzheimer’s disease. Its rarity has made it hard for the medical industry to make accurate diagnoses. Patients face an uncertain and unpredictable journey, lasting an average of eight years but sometimes more than 10 years, known as the diagnostic odyssey. Recent advances in genomic technologies such as NGS have increased physicians’ ability to properly diagnose, and thus, treat rare disease patients. This is because, as the saying goes, all cures start with a proper diagnosis.

Conceptualization of the diagnostic process.

Learning Objectives

In this course, you will learn about rare and inherited diseases and the types of diseases that it presents themselves as. In addition, in this course, you will learn the latest diagnostic technologies and treatments for these diseases, including pregnancy and newborn screening. By the end of the course, you will be able to use this knowledge and apply it in the context of healthcare settings and learn about the application of genomic technologies.

Key concepts you will discover:

  • Pedigree and Risk Calculation
  • Inheritable Cancers
  • Inheritable Cardio Vascular Diseases
  • Other Rare Diseases
  • Pregnancy and New Born Screening
  • Genomics and Inherited Diseases

Your investment

This course will approximately take 60 minutes.

Required knowledge

For a good understanding of terminologies and basic principles, it is advised to have finished the Genomics 101 module.

How will you learn?

The course includes film, animation, exercises, and quizzes to help you embed learning and to deepen your understanding of the key concepts. There are knowledge checks where you take the role of a practicing doctor, with expert comments afterward, so you can learn from the experts in the field.
In the bonus lesson at the end you will find extra material, such as links to additional information, a glossary, and the sources of the videos and images of third parties.


Finishing this course will grant you a certificate of participation.
This course is a part of the required training to certify you for the curricula of the PHIX Genomics Academy.

– Want to know first what’s in the course? Click on ‘Expand All’ and scroll down.


This course is developed and owned by PHIX Genomics Inc., inspired by its’ mission to bring genomic innovations to the Philippines and SE Asia. The PHIX Genomics Academy is happy to invite you to take this e-learning.

Participating in the course is free for those who have earned enough credit points with other, successfully finished, training modules from the PHIX Genomics Academy.

Start your learning about Inherited Diseases

– Click on lesson 1 below to start the course.
– You can pause any time you want, go forward or back at your own choice. When you feel you are happy with the material and ideas covered in a step, please ‘Mark as complete’. You can then click ‘next lesson’ to continue or return to earlier lessons.
– You can always come back to a step even after the end of the course.
– The final quiz at the end is the only part with a time limit. This will be explained at the end of the course.


  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7405896/
  2. https://www.nature.com/articles/d41586-021-01773-7
  3. https://www.ncbi.nlm.nih.gov/books/NBK19932/

Course Content

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