ANAT2341 Lab 2 2013

Introduction To Group Projects

This 2013 course is divided into the lecture content and the laboratory practicals and assessment is divided equally between these components. The short answer/ multiple choice tests that are conducted during the laboratories will constitute 20% of the final mark. The group project work conducted and supported during the laboratories will constitute 30% of the final mark. The remaining 50% will be by examination at the end of the course and will focus on lecture content and the course textbooks.

Group projects - "Using mouse models to understand human genetic developmental abnormalities"

This series of practicals has been designed to complement the lecture material by providing an opportunity to examine human embryology in the context of modern medical research aimed at understanding the cellular and molecular basis of human developmental abnormalities that are caused by genetic mutations. Since students may have a variable understanding of human genetics, mouse model development and cellular and molecular analytical techniques, each laboratory will provide tutorials on these topics and make use of a series of examples to support the research process as it progresses.

Objectives of this laboratory

1. First short answer/ multiple choice test of last week's lecture material
2. Describe the group project process and assessment procedure
3. Tutorial on an example of usage of mouse models to understand human genetic abnormalities - Williams-Beuren Syndrome
4. Provide time for the formation of groups and begin selection of the group project topic

First short answer/ multiple choice test on Lectures - Fertilization and Week 1 and 2 Development

The laboratories for this 2013 Embryology course support the lecture material by reviewing the content of the previous week using short answer questions and multiple choice tests to ensure that the material is understood and students are staying up to speed. Paper answer sheets will be provided at the beginning of the laboratory and the questions will be delivered by Powerpoint. It is important that students are on time for laboratory classes as the test will take place in the first minutes of the class. Questions arising from this test can be addressed immediately afterwards.

The group project process and assessment

Forming a group

Groups should ideally have 3 members but 2 is also allowable to take into account the final class size. Groups of 4 are not permitted. Groups should be formed during this 2nd laboratory either voluntarily or by random selection.

Selecting a topic

Below is a set of approved topics for group projects. Groups can select one of these but once it has been selected no other groups can make the same choice. Groups can also select their own topic but it must be approved by the course coordinator.

System	Human disease	OMIM	Gene	Relevant mouse models
Skin	Gorlin Sydndrome/Basal Cell Nevus Syndrome	109400	PTCH1	K14-Cre Ptc mutants
Craniofacial	Treacher-Collins Syndrome 1	154500	TCOF1	Tcof1 mutants
Limb development	Split-hand/foot malformation 1 with sensorineural hearing loss	220600	DLX5	Dlx5/6 mutants
Gonadal development	Campomelic Dysplasia	114290	SOX9	Sox9 transgenics/LOF mutants
Heart development	Holt-Oram Syndrome	142900	TBX5	Tbx5 mutants
Kidney development	Polycystic kidney disease, adult type I	173900	PKD1	Pkd1,2 mutants
Multisystemic	DiGeorge Syndrome	188400	TBX1	Multiple
Eye	Aniridia	106210	PAX6	Small eye (Sey)
Blood	Omenn Syndrome	603554	RAG1 and RAG2	Rag1 mutant and Rag2 knockin
Bone	Cleidocranial Dysplasia	119600	RUNX2	Runx2 mutant and knockout
Neural tube	Neural tube defects including spina bifida	182940	T	Tailless Brachyury mutants
Sexual differentiation	Androgen Insensitivity Syndrome	300068	AR	Tfm mice
Neural Crest Derivatives	Waardenburg Syndrome Type 4	277580	EDNRB	Endothelin-B receptor mutant