BB40124: Human developmental disorders
[Page last updated: 02 August 2022]
| Academic Year: | 2022/23 |
| Owning Department/School: | Department of Biology & Biochemistry |
| Credits: | 6 [equivalent to 12 CATS credits] |
| Notional Study Hours: | 120 |
| Level: | Masters UG & PG (FHEQ level 7) |
| Period: |
- Semester 1
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| Assessment Summary: | OT 30%, SM 70% |
| Assessment Detail: |
- Seminar presentation (SM 70%)
- Participation (OT 30%)
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| Supplementary Assessment: |
- Re-assessment Essay (where allowed by programme regulations)
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| Requisites: |
In taking this module you cannot take BB40085 OR take BB40102 OR take BB40118 OR take BB30229
Before taking this module you are advised to take BB20149
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| Learning Outcomes:
| After taking this course the student should be able to:
* explain how and why various techniques have been applied to the study of gene function in developmental disorders;
* evaluate the appropriate literature to determine the key facts that lead to our current understanding of the basis of a genetic disorder;
* evaluate the value and limitations of various experimental approaches in forming conclusions about a given disorder;
* present oral and written reports that form concise and up-to-date summaries of our knowledge of a genetic disorder.
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| Aims: | To explore the cellular and molecular basis of various human developmental disorders with a genetic or epigenetic basis. To investigate how different experimental approaches, especially the use of animal models, can be used to provide understanding of these disorders.
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| Skills: | Learning and studying T/F/A, Written communication T/F/A, Oral communication T/F/A, Information handling & retrieval T/F/A, Working independently T/F/A.
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| Content: | Developmental diseases may include the following syndromes: albinism, Angelman, Beckwith-Wiedemann, Denys Drash, Frasier, Hirshprung's, piebaldism, Prader-Willi, Rett, Silver-Russell, Waardenburg. Experimental approaches to encompass human molecular genetic studies (including screening for mutations, analysis of pedigrees and distinction of polymorphisms from causal mutations), techniques for evaluating mutant protein function (biochemically and in cell culture), and use of animal models.
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| Programme availability: |
BB40124 is Optional on the following programmes:
Department of Biology & Biochemistry
- USBB-AFB03 : BSc(Hons) Biology (Year 3)
- USBB-AKB07 : BSc(Hons) Biology with Professional Placement (Year 4)
- UXXX-AFB11 : BSc(Hons) Biomedical Sciences (Year 3)
- UXXX-AKB11 : BSc(Hons) Biomedical Sciences with Professional Placement (Year 4)
- USBB-AFM07 : MBiol(Hons) Biology (Year 3)
- UXXX-AFM11 : MBioMed(Hons) Biomedical Sciences (Year 3)
Programmes in Natural Sciences
- UXXX-AFM01 : MSci(Hons) Natural Sciences (Biochemistry with Chemistry stream) (Year 4)
- UXXX-AAM02 : MSci(Hons) Natural Sciences (Biochemistry with Chemistry stream) with Study year abroad (Year 5)
- UXXX-AKM02 : MSci(Hons) Natural Sciences (Biochemistry with Chemistry stream) with Professional Placement (Year 5)
- UXXX-AFM01 : MSci(Hons) Natural Sciences (Biochemistry with Pharmacology stream) (Year 4)
- UXXX-AAM02 : MSci(Hons) Natural Sciences (Biochemistry with Pharmacology stream) with Study year abroad (Year 5)
- UXXX-AKM02 : MSci(Hons) Natural Sciences (Biochemistry with Pharmacology stream) with Professional Placement (Year 5)
- UXXX-AFM01 : MSci(Hons) Natural Sciences (Biology with Chemistry stream) (Year 4)
- UXXX-AAM02 : MSci(Hons) Natural Sciences (Biology with Chemistry stream) with Study year abroad (Year 5)
- UXXX-AKM02 : MSci(Hons) Natural Sciences (Biology with Chemistry stream) with Professional Placement (Year 5)
- UXXX-AFM01 : MSci(Hons) Natural Sciences (Biology with Pharmacology stream) (Year 4)
- UXXX-AAM02 : MSci(Hons) Natural Sciences (Biology with Pharmacology stream) with Study year abroad (Year 5)
- UXXX-AKM02 : MSci(Hons) Natural Sciences (Biology with Pharmacology stream) with Professional Placement (Year 5)
- UXXX-AFM01 : MSci(Hons) Natural Sciences (Biology with Physics stream) (Year 4)
- UXXX-AAM02 : MSci(Hons) Natural Sciences (Biology with Physics stream) with Study year abroad (Year 5)
- UXXX-AKM02 : MSci(Hons) Natural Sciences (Biology with Physics stream) with Professional Placement (Year 5)
- UXXX-AFM01 : MSci(Hons) Natural Sciences (Chemistry with Biochemistry stream) (Year 4)
- UXXX-AAM02 : MSci(Hons) Natural Sciences (Chemistry with Biochemistry stream) with Study year abroad (Year 5)
- UXXX-AKM02 : MSci(Hons) Natural Sciences (Chemistry with Biochemistry stream) with Professional Placement (Year 5)
- UXXX-AFM01 : MSci(Hons) Natural Sciences (Chemistry with Biology stream) (Year 4)
- UXXX-AAM02 : MSci(Hons) Natural Sciences (Chemistry with Biology stream) with Study year abroad (Year 5)
- UXXX-AKM02 : MSci(Hons) Natural Sciences (Chemistry with Biology stream) with Professional Placement (Year 5)
- UXXX-AFM01 : MSci(Hons) Natural Sciences (Physics with Biology stream) (Year 4)
- UXXX-AAM02 : MSci(Hons) Natural Sciences (Physics with Biology stream) with Study year abroad (Year 5)
- UXXX-AKM02 : MSci(Hons) Natural Sciences (Physics with Biology stream) with Professional Placement (Year 5)
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Notes: - This unit catalogue is applicable for the 2022/23 academic year only. Students continuing their studies into 2023/24 and beyond should not assume that this unit will be available in future years in the format displayed here for 2022/23.
- Programmes and units are subject to change in accordance with normal University procedures.
- Availability of units will be subject to constraints such as staff availability, minimum and maximum group sizes, and timetabling factors as well as a student's ability to meet any pre-requisite rules.
- Find out more about these and other important University terms and conditions here.
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