Introduction to Human Genetics 2005

Introduction

The unifying topic of this course is how genes and their interactions, either with other genes or with the environment, make us what we are. When these interactions break down genetic disease may result, and it is often through these genetic mistakes that we are able to work out what happens in the normal situation. There are several ways in which the study of human genetics differs from that of other animals. First of all it is directly relevant to us, as individuals, as parents and as decision-makers. Secondly although experimentation in humans is limited, enormous amounts of detailed observational data are available. Most topics in this course relate to things we now understand because of some diseases, but much has also been learnt from 'normal' variation. We also benefit from looking at the behaviour of genes and their interaction with the environment not only in cells and in individuals but also in families and in populations.

The Arnolphini Marriage by J. Van Eyke

Course organisation

Human genetics is a complex subject which is studied by a variety of techniques which have evolved rapidly over the past few years. This course covers many of them. Sometimes you will think that we are being unnecessarily historical and/or repetitive. However, by the end of the course the different aspects will have come together and we hope that all will at last make sense!

topics

First comes a reminder that Mendelian rules of inheritance can be applied to human families but that this is not always straightforward to interpret.

Not all traits are inherited in a simple "Mendelian" fashion and the next few lectures introduce the methods by which quantitative and multifactorial traits are studied.

Next comes a section on techniques starting with the techniques of molecular genetics and continuing with the genetic mapping techniques which culminated in the multi billion dollar human genome project. Within this section we will look at some of the better known human genetic diseases which are interesting both for their own sake but also as examples of the results obtained using the molecular methods discussed earlier.

Next comes a week spent considering chromosomes. Some of the facts introduced here are relevant to what has gone before and once you have thought about the evidence obtained by cytogeneticists you yould be well advised to revisit some of the earlier material.

The human genome project has now moved on from the study of "the" human DNA sequence to the study of variation between individuals and populations. The existance of genetic variation "polymorphism" has been known for many years and we look at this both from a historical perspective as well as considering how this is of interest to medicine and to the pharmaceutical industry. The fourth week of the course considers the nature and origin of genetic variation and gives a historical outline of the human genome project.

In the fifth week we consider cancer, the biggest problem of genetic disease and finally we look at the study of human populations.

Textbooks

Any number of good human genetics textbooks can be found in Waterstones and the DMS Watson library. Here are a selection which I have suggested in the past or which I think might be useful now. Because a book is not in this list does not necessarily mean it is not suitable, just that I have not reviewed every possibility. Some of these books are quite advanced and you should probably contemplate purchasing these only if you are intending to take third year human genetics courses.

In the table below, the images on the left are links to the publishers' websites.

	Human Heredity, Principles and Issues. Michael R Cummings. Brooks/Cole Publishing (6th Ed., 2003)	Very good and up to date, useful next year too for those taking further human genetics courses.
	How the human genome works Edwin H. McConkey. Jones & Bartlett (2004)	I have recommended a different book by this author in the past (now too out of date) but have not seen this latest one. The publisher's blurb makes it sound attractive - but it would, wouldn't it! Worth taking a look although, from the table of contents, I would say that there is more in b241 than is covered by the book. It's probably better for medical students than for science students.
	Thompson and Thompson, Genetics in Medicine Nussbaum, McInnes and Willard. Saunders (2004)	An excellent medical genetics textbook. As with Emery (below) this is probably more suitable for medical students with a real interest in human genetics than for science students but even for them it's worth consideration.
	Emery's Elements of Medical Genetics. Turnpenny and Ellard. Churchill Livingstone (12th Ed., 2004)	clinical in its emphasis - intended for medical students but an excellent book
	Human Molecular Genetics. Peter Sudbery. Pearson (2002)	Suitable for those going on to Biology C340 (Disease to Gene to Therapy taken by all 3rd year human genetics students) but a couple of years now since its last revision
	Human Molecular Genetics. Tom Strachan and Andrew Read. Garland Science Publishing 3rd. edition (2003)	New edition (2003) and also particularly suitable for those going on to study Biology C340 next year
	Modern Genetic Analysis Anthony J.F. Griffiths, William M. Gelbart, Richard C. Lewontin and Jeffrey H. Miller. W.H. Freeman and Co. 2nd edition (2002)	Despite not being a specific human genetics textbook this is still recommended, it will also be useful for B200 and for other genetics courses in both the second and the third years.

Lectures

Whilst attendance at lectures is not compulsory, you would be foolish not to come. Almost all the lecturers have placed notes on the web but these are an adjunct to attendance and not a substitute. We recommend that you come to the lectures, take notes, obtain the handouts and use the web notes as an aid to digesting this material, also for revision and for links to other sources of information.
The timetable can be accessed from the icon on the right.

Tutorials and "quizzes"

During the course there are compulsory tutorials and other problem classes on Friday afternoons (usually for one hour but sometimes for longer) when you will work in small groups and be able to ask questions about anything you find difficult or would like to know more about. You will be allocated to your group after the first lecture. Please check the timetable carefully and make sure you can attend at the required times because to be "complete" and allowed to sit the exam you must have attended every session. If there is a problem with your timetable let us know and we will endeavour to alter the timing of a subgroup accordingly (provisionally the awkward squad is timetabled for Thursdays at 2p.m. on the day preceding the main event). The makeup of the groups and the time table can be found by clicking on this blackboard after 3.00 p.m. on Thursday September 30th. If you miss a session you must discuss your reason for absence with Dr. Wolfe.

Assessment

Assessment of this course is 10% work sheets from problem sessions (the Biochemical quiz and the Cytogenetics quiz), 10% essay and 80% exam. The Biochemical genetics quiz will be handed out in the session, demonstrators will be on hand to help with its analysis and there will be additional time afterwards to complete the work before you hand it in. The cytogenetics quiz will be made available on the web shortly before the session and again, there will be demonstrators at the session to help with its analysis but it will be handed in on the day it is done. The examination in May/June will take the form of four essay questions (from nine) to be answered in three hours. Recent past papers can be reached by clicking on the exam paper icon.

Essay

You are required to write one assessed essay as part of this course. The topic should be chosen from the list linked via the notebook on the right. These essays should be handed by 5.00 p.m. on Friday 11^th November to the collection box in room 306 of Wolfson House.

Plagiarism

You will all have received the College instructions on plagiarism, so we do not repeat it in full here but if you are unsure what constitutes plagiarism click on the guy on the right (whom some of you may realise that I have plagiarised from the Grateful Dead!). We hope you will find useful information on the Web. Avoid the temptation to cut and paste it into your essays but digest and re-express it in your own words!

Problems?

We hope there won't be any! But if you do have any problems please contact Jonathan Wolfe, course organiser who can be found in room 109 Wolfson House, phone 27417, email: j.wolfe@ucl.ac.uk

Course Feedback

The results of the 2003/4 student questionnaire are available. Click on the smiley.