MO Human genetics and genome-base health 17/10

Question 1

Abstract

Answer 1

outlines the relationship between genetics, genomics, and health. Genetics focuses on the study of individual genes and their inheritance patterns, while genomics examines the entire genome and its interactions with environmental factors. A significant portion of global health issues, such as genetic disorders, stems from mutations in genes or chromosomes. Advances in genomics have facilitated key applications, including personalized cancer treatments, prenatal testing, and diagnostics for rare diseases. Genomic medicine is evolving to integrate multi-omics data, allowing a deeper understanding of disease mechanisms. Technological advances like Next-Generation Sequencing (NGS) and bioinformatics platforms like DRAGEN enhance the speed and accuracy of genetic testing. Understanding the patterns of inheritance—autosomal, X-linked, mitochondrial—is crucial for diagnosing monogenic, polygenic, and chromosomal disorders. The future of genomics lies in preventive medicine, pharmacogenomics, and improved ethnic diversity in genomic databases.

Question 2

Difference between genetics and genomics

Answer 2

genetics is more focused on individual genes and heredity, while genomics looks at the entire genome and its complex interactions.

Question 3

Genetic disorders can be categorized into three main types

Answer 3

• Monogenic disorders (65% of cases), such as cystic fibrosis and sickle cell anemia, caused by mutations in a single gene.
• Polygenic disorders (9% of cases), such as diabetes and heart disease, caused by interactions between multiple genes and environmental factors.
• Chromosomal abnormalities (7% of cases), such as Down syndrome and Turner syndrome, which involve changes in chromosome number or structure.

Question 4

Patterns of Inheritance: Understanding how genetic traits are inherited is crucial for diagnosing disorders

Answer 4

The key patterns of inheritance include:
* Autosomal recessive and dominant (35% and 24% of cases, respectively)
* X-linked recessive and dominant
* Mitochondrial inheritance, where only maternal genes are passed on.

Autosomal Recessive: This pattern occurs when a trait or disorder is expressed only when an individual inherits two copies of the mutated gene (one from each parent). Carriers with one copy of the gene do not show symptoms

Autosomal Dominant: In this pattern, only one copy of the mutated gene is sufficient to express the trait or disorder. An affected individual has a 50% chance of passing the condition to their offspring.

X-Linked Recessive: This pattern is associated with genes located on the X chromosome. Males (with one X and one Y chromosome) are more commonly affected because they have only one copy of the X chromosome. Females (with two X chromosomes) can be carriers without showing symptoms unless they inherit two copies of the mutated gene.

X-Linked Dominant: In this pattern, a mutation in a gene on the X chromosome can cause the trait or disorder to be expressed in both males and females, but females are typically more affected due to having two X chromosomes.

Question 5

Future Trends in Genomics:

Answer 5

• Pharmacogenomics: Personalized treatments based on genetic profiles to improve drug efficacy and reduce side effects.
• Preventive Medicine: Using genetic data to predict and prevent diseases before they manifest.
• Integration of Multi-Omics: Combining genomics with proteomics and metabolomics for a more holistic view of disease mechanisms.
• Ethnic Diversity: Expanding genomic databases to include a more diverse representation of ethnic groups for improved accuracy in diagnosis and treatment.