AQA · GCSE · Combined Science

    Course version: 8464 · Version from Sept 2018

    Modern medical research is exploring the possibility of genetic…

    Full specification wording

    Genetic engineering: Modern medical research is exploring the possibility of genetic modification to overcome some inherited disorders.

    Inherited disorders, such as cystic fibrosis, are caused by faulty alleles inherited from parents.

    Checked against the AQA 8464 specification (opens in a new tab) on .

    • Point 8 of 12
    • 3 key terms

    Study notes

    From the checked teaching notes for this specification point.

    The idea

    Inherited disorders, such as cystic fibrosis, are caused by faulty alleles inherited from parents. Modern medical research is exploring genetic modification, often called gene therapy, to treat these disorders. The basic idea is to insert a normal, working copy of the allele into the cells of a person with the disorder. This allows the patient's cells to produce the functional protein that was previously missing or faulty. Currently, this research is still at an early stage and treatments are not yet routine. There are also ethical concerns, especially if genetic changes were made to sex cells or embryos, as these modifications would be passed on to future generations.

    What earns the marks

    • Inherited disorders are caused by faulty alleles passed from parents to offspring.
    • Genetic modification is being researched as a way to overcome these disorders by inserting a normal allele into the patient's cells.
    • The inserted normal allele allows the cells to produce a functional protein.
    • Research is ongoing to ensure these potential treatments are safe and effective before they become routine.

    Common mistakes and how to put them right

    • Saying genetic modification currently cures all inherited disorders.

      Put it right by stating that research is exploring the possibility and it is not yet a routine cure.

    • Stating that the therapy aims to produce a faulty protein.

      Put it right by explaining the goal is to produce a functional or normal protein.

    • Assuming changes to a patient's body cells will be inherited by their children.

      Put it right by stating that only changes to sex cells or embryos are passed on.

    Exam tips

    • Name a specific inherited disorder, such as cystic fibrosis, to make your explanation concrete.
    • When discussing the aim of the treatment, clearly state that it provides a normal allele so the cell can make a functional protein.

    Try the lesson

    The start of the Genetic engineering: Modern medical research is exploring the possibility of genetic modification to overcome some inherited disorders. lesson, made from checked teaching notes for this specification point.

    Have a go first

    What is modern medical research exploring the possibility of using genetic modification for?

    Listen

    Inherited disorders, such as cystic fibrosis, are caused by faulty alleles inherited from parents. Modern medical research is exploring genetic modification, often called gene therapy, to treat these disorders. The basic idea is to insert a normal, working copy of the allele into the cells of a person with the disorder. This allows the patient's cells to produce the functional protein that was previously missing or faulty. Currently, this research is still at an early stage and treatments are not yet routine. There are also ethical concerns, especially if genetic changes were made to sex cells or embryos, as these modifications would be passed on to future generations. A strong answer earns marks for these points. Inherited disorders are caused by faulty alleles passed from parents to offspring. Genetic modification is being researched as a way to overcome these disorders by inserting a normal allele into the patient's cells. The inserted normal allele allows the cells to produce a functional protein. Research is ongoing to ensure these potential treatments are safe and effective before they become routine. A common slip: Saying genetic modification currently cures all inherited disorders. Instead, stating that research is exploring the possibility and it is not yet a routine cure. Exam tip: Name a specific inherited disorder, such as cystic fibrosis, to make your explanation concrete.

    See it

    A top-down flowchart. The first box, faulty allele inherited from parents, leads to inherited disorder. This leads to genetic modification researched (gene therapy). From there, one arrow goes to a box saying a normal working copy of the allele is inserted into the patient's cells, which leads to cells producing functional protein. Two further arrows branch from the genetic modification box: one to research still at an early stage, and one to ethical concerns, which leads to a final box saying changes to sex cells or embryos are passed to future generations.
    It shows how a faulty allele causes an inherited disorder and how genetic modification research aims to insert a normal allele so cells make a functional protein, alongside early-stage research and ethical concerns.

    Key words

    Say what each word means before you turn the card.

    Inherited disorders

    Try answering aloud or in your head before turning the card.

    Genetic modification in medicine

    Try answering aloud or in your head before turning the card.

    Ethical issues in genetics

    Try answering aloud or in your head before turning the card.

    See every definition
    Inherited disorders
    Conditions caused by faulty alleles inherited from parents, such as cystic fibrosis.
    Genetic modification in medicine
    Research exploring the insertion of a normal, working copy of the allele into the cells of a person with a disorder.
    Ethical issues in genetics
    Concerns about genetic changes made to sex cells or embryos, as these modifications would be passed on to future generations.

    Label the diagram

    Some boxes have lost their names. Pick the right name for each number.

    The diagram again, with 3 boxes numbered instead of named. A top-down flowchart. The first box, faulty allele inherited from parents, leads to inherited disorder. This leads to genetic modification researched (gene therapy). From there, one arrow goes to a box saying a normal working copy of the allele is inserted into the patient's cells, which leads to cells producing functional protein. Two further arrows branch from the genetic modification box: one to research still at an early stage, and one to ethical concerns, which leads to a final box saying changes to sex cells or embryos are passed to future generations.
    • 1Box 1

    • 2Box 2

    • 3Box 3

    0 of 3 labelled

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