Briefly review the lysosomal storage diseases and discuss the laboratory approach to achieving a diagnosis of a
lysosomal storage disease. Use Pompe disease as an example. (min 500words)

Give an account of the molecular genetic defects that underlie
thalassaemia and sickle cell disease.
What are the resulting clinical features of these conditions?
Describe the current status and future prospects of ONE of the following
genetic-based treatment options for these haemoglobinopathies:
(i) gamma-globin gene reactivation; (ii) gene therapy. (min 500words)

**Please do not write in cursive**

Q: How are the parasitic types of flatworms different in what body organs they have and how they go about reproduction and development compared to free-living (non-parasitic) flatworms?

The “reading frame hypothesis” can explain the difference in
phenotype between Duchenne and Becker muscular dystrophies (DMD
and BMD respectively), diseases which are both caused by mutations
affecting the gene encoding the protein dystrophin. How has our
understanding of the molecular bases of these two diseases led to
development of molecular therapies for DMD using antisense
oligonucleotides to modulate dystrophin RNA splicing, and involving a
mechanism of so-called exon skipping? (min 500words)

6. At which stage(s) of meiosis does the following occur?

1. Replication? ______________________________________

2. Crossing over? ______________________________________

3. Random assortment? ______________________________________

4. Separation of bivalents? ______________________________________

5. Separation of sister chromatids? ______________________________________

6. Transition from diploid to haploid? ______________________________________

List the different classes of antibodies, where they are found and their functions

Describe the functions of the following proteins and how they modify other proteins to activate or inactivate these other protein’s enzymatic functions: 1)Kinases, 2)Phosphatases, 3)Acetyltransferases, 4)Methyltransferases.

In a gene regulatory network, describe the differences between: a) Inducible versus Repressible control systems b) Up and Down regulation

If being a cancer cell was easy every cell would do it. Based on what you learned from this course, using at least 3 distinct points, justify this statement. (5 points)

Metastasis is responsible for about 90% of cancer associated deaths. The five year survival rate comparisons for metastatic and non-metastatic tumors in various tissues was presented in lecture 10. The prostate cancer survival rate for non-metastatic tumors is 100%, whereas for liver cancer it is 28%. Why do you think there is such a big difference in survival rates for these two cancer types when both are non-metastatic tumors? (5 points)

Knockdown of a protein "TAP" in mice leads to a loss of tumor associated pericytes. What consequence would this have on metastasis and why? (5 points)

List and Describe three regulated stages of gene expression (hint there are six to choose from).

In the lectures you heard “Cancer cells hijack the EMT process”. The definition of hijack according to the Cambridge dictionary is “to take control of or use something that does not belong to you for your own advantage”. Now, explain what does it mean when you say cancer cells hijack the EMT process or in other words, how are the cancer cells hijacking the EMT process? (5 points)

Explain how the replication of the lagging strand occurs in E. coli. Include a description of the role of each of the key enzymes involved.