Difference between revisions of "Instruction:5e0e41cd-f7b5-4108-a0b1-9107a89ec20f"
(Undo revision 10505 by 0009-0001-9914-1502 (talk)) Tag: Undo |
|||
| Line 31: | Line 31: | ||
{{Instruction Step Trainee | {{Instruction Step Trainee | ||
|Instruction Step Title=What is Hunter Syndrome? | |Instruction Step Title=What is Hunter Syndrome? | ||
| − | |Instruction Step Text=Watch the video below to learn about Hunter syndrome and its effects and impacts | + | |Instruction Step Text=[[File:A_child_using_building_blocks.jpeg|600px]] |
| + | |||
| + | Watch the video below to learn about Hunter syndrome and its effects and impacts | ||
| Line 43: | Line 45: | ||
Hunter syndrome is a rare genetic disorder that primarily affects males. It is part of a group of diseases known as mucopolysaccharidoses or MPS, which are caused by the body's inability to break down certain complex sugars called glycosaminoglycans or GAGs. For people with Hunter syndrome, a lack of the enzyme iduronate-2-sulfatase or IDS, means that GAGs build up inside the body leading to a wide variety of symptoms including developmental issues, physical problems and mental decline. For example: | Hunter syndrome is a rare genetic disorder that primarily affects males. It is part of a group of diseases known as mucopolysaccharidoses or MPS, which are caused by the body's inability to break down certain complex sugars called glycosaminoglycans or GAGs. For people with Hunter syndrome, a lack of the enzyme iduronate-2-sulfatase or IDS, means that GAGs build up inside the body leading to a wide variety of symptoms including developmental issues, physical problems and mental decline. For example: | ||
| − | * Physical development impacts like coarse facial features, thickened skin, enlarged tongue, and joint stiffness. | + | *Physical development impacts like coarse facial features, thickened skin, enlarged tongue, and joint stiffness. |
| − | * Developmental delays in children affecting motor skills, speech, and learning. | + | *Developmental delays in children affecting motor skills, speech, and learning. |
| − | * Respiratory problems with frequent respiratory infections, sleep apnoea, and other breathing difficulties. | + | *Respiratory problems with frequent respiratory infections, sleep apnoea, and other breathing difficulties. |
| − | * Hearing loss. | + | *Hearing loss. |
| − | * Enlarged liver and spleen, leading to abdominal distension. | + | *Enlarged liver and spleen, leading to abdominal distension. |
| − | * Heart problems with heart valve abnormalities and other cardiac issues. | + | *Heart problems with heart valve abnormalities and other cardiac issues. |
| − | * Skeletal abnormalities like joint stiffness, short stature, and abnormal bone development. | + | *Skeletal abnormalities like joint stiffness, short stature, and abnormal bone development. |
| − | * The onset of the disease is usually between the ages of 2 and 4 years and developmental decline is usually evident between the ages of 18 and 36 months. | + | *The onset of the disease is usually between the ages of 2 and 4 years and developmental decline is usually evident between the ages of 18 and 36 months. |
| Line 59: | Line 61: | ||
Enzyme replacement therapy (ERT). Regular, often weekly, infusions of a synthetic version of the missing enzyme can help reduce the buildup of GAGs. However, the enzyme is not able to pass the blood-brain-barrier, so this form of treatment does not help to protect against brain damage. | Enzyme replacement therapy (ERT). Regular, often weekly, infusions of a synthetic version of the missing enzyme can help reduce the buildup of GAGs. However, the enzyme is not able to pass the blood-brain-barrier, so this form of treatment does not help to protect against brain damage. | ||
| − | |||
| − | |||
| − | |||
| − | |||
| − | Despite treatment, those with severe disease usually die in their teens. Those with a milder form of Hunter syndrome might live with more gradual deterioration in health until middle age. | + | # <br /> Symptomatic treatments for specific issues including physical therapy for joint problems, medications for respiratory and heart problems, and surgical interventions for specific complications. |
| + | # <br /> Despite treatment, those with severe disease usually die in their teens. Those with a milder form of Hunter syndrome might live with more gradual deterioration in health until middle age. | ||
}} | }} | ||
{{Instruction Remarks Trainee}} | {{Instruction Remarks Trainee}} | ||
Revision as of 13:30, 6 March 2025
InstructionsGene Editing Case Study with Human Application
The aim of this module is to facilitate reflection upon the ethics issues associated with the development and use of gene editing in humans.
Learning outcomes
At the end of this module, learners will be able to:
- Identify and analyse the ethics issues and dilemmas associated with an example research proposal.
- Make suggestions for how the ethics issues might be addressed.
- Identify ethics guidelines and policies that are relevant to the proposed research.
Video Transcript
In humans, gene therapy via gene editing is a rapidly growing field of research with many potential benefits for health and wellbeing. It involves the editing of genes to modify or knock out specific genes to achieve desired traits, to correct genetic defects, to treat or prevent disease, or to enhance cellular functions.
In this module we consider an example proposal for a research project that is based upon a real-world study. The study aims to trial gene therapy for Hunter syndrome in a small group of young children. As you work through the module, we invite you to consider the ethics issues that are associated with this type of study from a variety of perspectives as well as how they might be addressed. We begin with some information about the disease.
What is Hunter Syndrome?
Watch the video below to learn about Hunter syndrome and its effects and impacts
Video Transcript
What is Hunter syndrome?
Hunter syndrome is a rare genetic disorder that primarily affects males. It is part of a group of diseases known as mucopolysaccharidoses or MPS, which are caused by the body's inability to break down certain complex sugars called glycosaminoglycans or GAGs. For people with Hunter syndrome, a lack of the enzyme iduronate-2-sulfatase or IDS, means that GAGs build up inside the body leading to a wide variety of symptoms including developmental issues, physical problems and mental decline. For example:
- Physical development impacts like coarse facial features, thickened skin, enlarged tongue, and joint stiffness.
- Developmental delays in children affecting motor skills, speech, and learning.
- Respiratory problems with frequent respiratory infections, sleep apnoea, and other breathing difficulties.
- Hearing loss.
- Enlarged liver and spleen, leading to abdominal distension.
- Heart problems with heart valve abnormalities and other cardiac issues.
- Skeletal abnormalities like joint stiffness, short stature, and abnormal bone development.
- The onset of the disease is usually between the ages of 2 and 4 years and developmental decline is usually evident between the ages of 18 and 36 months.
There is currently no cure for Hunter syndrome, but treatments can help to manage the symptoms and improve quality of life. Options include:
Enzyme replacement therapy (ERT). Regular, often weekly, infusions of a synthetic version of the missing enzyme can help reduce the buildup of GAGs. However, the enzyme is not able to pass the blood-brain-barrier, so this form of treatment does not help to protect against brain damage.
Symptomatic treatments for specific issues including physical therapy for joint problems, medications for respiratory and heart problems, and surgical interventions for specific complications.
Despite treatment, those with severe disease usually die in their teens. Those with a milder form of Hunter syndrome might live with more gradual deterioration in health until middle age.
