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Questions and Answers
A rare disease is defined as having a prevalence of less than 1/2000.
True
Common diseases are always caused by single-gene defects.
False
Rare diseases are often chronic and can be life-threatening.
True
Pretty much everyone will be affected by a common disease at some point in their life.
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An example of a common disease is Huntington’s disease.
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Rare diseases are always caused by multiple gene interactions.
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Common diseases can affect virtually everyone at some point in their life.
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Multifactorial inheritance describes the interactions of several genes in a disease.
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Sickle-cell anemia is classified as a common disease in the European population.
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The prevalence rate for a rare disease is higher than 1/2000 cases in the general population.
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Single-gene defects are characterized by interactions of several genes.
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It is estimated that the collective prevalence of rare diseases affects 6-8% of the population.
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Common diseases typically have their onset in early childhood.
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Huntington’s disease is classified as a rare disease that affects most individuals before adulthood.
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Polygenic defects involve only a single genetic locus.
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Study Notes
Human Inherited Diseases
- Diseases can be caused by genetic defects, leading to a disease phenotype
- There are two broad categories of diseases:
- Single-gene (monogenic) defects
- Caused by a single disease allele, dominant or recessive
- Exhibit simple Mendelian inheritance patterns
- Multi-gene (polygenic) defects
- Caused by interactions of several genes
- Exhibit complex, non-Mendelian inheritance patterns
- Single-gene (monogenic) defects
Rare Diseases
- Defined as diseases with a prevalence of less than 1 in 2,000 individuals
- Often, but not always, governed by a single gene/locus
- Characterized by being chronic and life-threatening
- Often have an early onset, affecting children
- Estimated that 5,000-7,000 rare diseases exist
- Collectively, rare diseases are common: 6-8% of the population are affected
- Examples include:
- Neurofibromatosis
- Huntington’s disease
- Phenylketonuria
- Sickle-cell anemia (prevalence varies by region; 1/160,000 in EU, higher in Bahrain)
Common Diseases
- Commonly occurring in a population
- Often polygenic or multifactorial in nature
- Can be chronic, with onset later in life
- Nearly everyone is affected by a common disease at some point in their lives
Human Inherited Disease
- Human diseases are caused by genetic defects that result in a disease phenotype.
Two Broad Categories of Inherited Disease
- Single-gene (monogenic) defects: A single disease allele is inherited in a dominant or recessive manner, following a simple Mendelian pattern.
- Multi-gene (polygenic) defects: Interactions of several genes result in complex (non-Mendelian) inheritance patterns.
Rare Diseases
- Prevalence is less than 1 in 2000 people.
- Often, but not always, caused by a single gene.
- Chronic and life-threatening.
- Often present early in life, affecting children.
- Estimated 5,000-7,000 rare diseases exist, affecting 6-8% of the population.
- Examples: Neurofibromatosis, Huntington’s disease, Phenylketonuria, Sickle-cell anemia.
Common Diseases
- Occur commonly in a population.
- Polygenic or multifactorial in nature.
- Can be chronic.
- Onset is often later in life.
- Most people experience a common disease at some point in their lives.
Human Inherited Disease
- Some diseases are caused by DNA defects resulting in a disease phenotype.
- Two categories:
- Single-gene (monogenic) defects: Single disease allele, dominant or recessive, simple Mendelian inheritance.
- Multi-gene (polygenic) defects: Interactions of several genes, complex inheritance.
Rare Disease
- A disease with a prevalence of less than 1/2000.
- Often (but not always) governed by a single gene/locus.
- Often chronic and life-threatening.
- Often early onset - affecting children.
- Estimated 5,000-7,000 rare diseases exist.
- Collectively, rare diseases are common.
- Estimated 6-8% of the population are affected by a rare disease.
- Examples: Neurofibromatosis, Huntington's disease, Phenylketonuria, Sickle-cell anemia (prevalence varies by region: 1/160,000 in EU, higher in Bahrain).
Common Disease
- Occurs commonly in a population.
- Polygenic or multifactorial in nature.
- Can be chronic.
- Onset is often later in life.
- Pretty much everyone is affected by a common disease at some point in their life.
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Description
Test your knowledge on human inherited diseases, including their genetic causes and classifications. This quiz covers both single-gene and multi-gene disorders, as well as details on rare diseases and their prevalence. Perfect for students learning about genetics and disease inheritance patterns.
