Human Genetics and Genomics
Genetics is becoming more and more important across all areas of clinical
medicine. The importance of genetic knowledge in Primary Care has been
accepted by the Department of Health and within the next few years all health
professionals will be expected to have a rigorous understanding of the
contribution of genetic variation to health and disease. Genetics underpins all
biomedical disciplines molecular, cell and developmental biology, neuroscience
and psychology, physiology, pathology and epidemiology. The rapidly developing
field of medical bioinformatics and personalized medicine will have a significant
impact on diagnosis and patient care, across the whole of medicine.
Students on the Human Genetics and Genomics iBSc will be given a thorough
introduction to the field by taking the three compulsory modules. “Introduction to
Human Genetics” and “Advanced Human Genetics” in term one will build on the
genetics teaching in the later part of year 2 of the MBBS and introduce you to the
techniques used to map and understand the interactions between genes involved
in human disease. .”Human Genetics in Context” will introduce you to the worldleading research currently being carried out in the department of Genetics,
Evolution and Environment (GEE). Please visit the department’s web page to get
an idea of the range of research topics covered.
In addition to the core modules and their research project students choose 2-3
optional modules. You may choose to study the broader application of genetics
and genomics to understand any number of topics including, but by no means
restricted to, cancer progression, neurodegenerative and neuropsychiatic
disorders, the biological basis of the ageing process, the ongoing co-evolution of
humans and disease organisms or the origins of sexual reproduction and
eukaryotic cells. The exact courses to be taken should be discussed with the
programme tutor, Dr.Hazel Smith. The option offered by the department (GEE)
are listed below but the list is far from definitive.
HUMAN GENETICS/GENETICS - COURSE STRUCTURE
Module
Code
Module Title
Unit
BIOL2006
Introduction to Human Genetics
0.5
BIOL3011
0.5
BIOL3013
Human Genetics in Context
Advanced Human Genetics:
Research Principles
1
2
0.5
1
Core
Project
BIOL3004
Literature Review
1.0
1&2
OR
BIOL3005
Introduction to Research
1.5
1&2
Optional
modules
offered by
GEE
BIOL3012
Sex, Genes and Evolution
0.5
2
BIOL3017
Biology of Ageing
Advanced Molecular Biology:
Genomics and Evolution
0.5
1
0.5
2
Core
Taught
BIOL3024
Term
Students on the iBSc Human Genetics and Genomics also take options in other
departments across UCl. Popular options in the past year have included:
*BIOC3010 Computational and Systems Biology
*CELL3001 Stem Cells and Regenerative Medicine
*BIOC3013 Cancer Biology OR INIM3009 Neoplasia and its Treatment
*BIOC3016 Genes to Disease OR *ANAT3028/ANAT3029: Neurobiology of
Neurodegenerative disease OR *ANAT3040 Molecular basis of Psychiatric Disorders
PSYC3307 Genes and Behaviour
*Some of these modules are capped so you cannot be guaranteed a place on them.
The criteria used for selection are generally based on your academic background
and this may include your second year MBBS harmonised iBSc grade. You can find
up to date information of the cap and the criteria used for selection on the module
database or by talking to the programme director.
Detailed descriptions of core and optional modules offered by GEE
BIOL2006: INTRODUCTION TO HUMAN GENETICS
0.5 unit
Dr Nikolas Maniatis
Assessment: Essay and workshop/ practicals 30%. Unseen two-hour written
examination 70%
This course builds on what you have covered in the 2nd year of the MBBS to
introduce you to the full range of human genetics, to enable you to appreciate the
implications of genetic research for society and to provide a basis for more advanced
studies. 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 methods by which quantitative and
multifactorial traits are studied are introduced. These methods are followed by a
section on molecular genetics which continues into genetic mapping techniques
which culminated in the multi billion dollar human genome project. Within this section
we examine 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. One week is spent considering chromosomes.
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
existence 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.
Further information:
http://www.ucl.ac.uk/lifesciences-faculty-php/courses/viewcourse.php?coursecode=BIOL2006
BIOL3013: ADVANCED HUMAN GENETICS: RESEARCH PRINCIPLES
0.5 unit
Prof Francois Balloux
Assessment: Unseen two-hour written examination 75%. Three genetics
problems and one essay (1,500-2,000) 25%
Human Genetics has undergone a tremendous expansion in recent years, in no
small measure due to a wide-ranging technological revolution. Results from this
research are having a growing impact across a range of disciplines, including
medicine, biology, anthropology and forensics. This module introduces the basic
principles underlying modern human genetics research. A combination of lectures
presenting the theoretical principles, practical exercises allowing you to apply these
principles, and research-focused lectures providing illustrative case-studies.
Further information:
http://www.ucl.ac.uk/lifesciences-faculty-php/courses/viewcourse.php?coursecode=BIOL3013
BIOL3011 HUMAN GENETICS IN CONTEXT
0.5 unit
Dr Garrett Hellenthal
Assessment: Unseen two-hour written examination 75%. 20% coursework and
5% problem solving (25%)
Genetic and environmental variation affects all complex human traits and disorders.
However, which variants affect us and how they have their effects depends on the
environmental, developmental and evolutionary context. For example, some genetic
effects may be apparent only in childhood, only in the centre of large cities, or only
when we are exposed to certain pathogens. In addition, human genetics is not
studied in a vacuum: it is influenced by and influences human society. This module
builds on your term one human Genetics modules to introduce the burning issues in
the science of human genetics, how context affects our genomes, and how
discoveries in human genetics are affecting our society.
Further information:
http://www.ucl.ac.uk/lifesciences-faculty-php/courses/viewcourse.php?coursecode=BIOL3011
BIOL3005: INTRODUCTION TO RESEARCH
1.5 unit
Dr Daniel Pearce
Assessment: Coursework 100%
The course provides the opportunity to undertake an individual research project of 9
weeks duration (including writing the assessed report) under supervision. Projects
can be based on experimental research, field work, theoretical or data analysis. You
will develop skills in designing experiments, framing questions, and, where relevant,
planning the details and implementing the practical work. You will also receive
guidance on assessing results and on presenting the project in both written and
verbal form. You will also be expected to read relevant literature.
Further information:
http://www.ucl.ac.uk/lifesciences-faculty-php/courses/viewcourse.php?coursecode=BIOL3005
BIOL3004: LITERATURE REVIEW
1.0 unit
Dr Daniel Pearce
Assessment: Coursework 100%.
The course provides the opportunity to undertake an individual review of published
literature on a specified topic under supervision. You will develop skills in searching
databases for relevant recent scientific literature, genetic or genomic information,
collation and qualitative/quantitiative analysis of research findings from the primary
research literature, writing in the style of an article for an established scientific journal
and conveying your research results to others in an oral presentation,
Further information:
https://www.ucl.ac.uk/lifesciences-faculty-php/courses/viewcourse.php?coursecode=BIOL3004
BIOL3012: SEX, GENES AND EVOLUTION
0.5 unit
Prof A Pomiankowski
Assessment: Unseen two-hour written examination 60%. Coursework 40%
A lecture and seminar course on modern aspects of evolutionary genetics and
sociobiology. The course will concentrate on (a) the evolution of sex and its
consequences and (b) evolutionary conflicts between individuals and genes within
individuals. A wide range of topics will be covered including: the evolutionary origins
of sexual reproduction; the maintenance and consequences of selfish genetic
elements (meiotic drive genes, cytoplasmic genes, transposable elements, B
chromosomes); the evolution of sex chromosomes; the evolution of distinct sexes;
the origin and evolution of social insects; sexual selection; sperm competition;
genomic imprinting; the inheritance of acquired characters; the biology of ageing.
The course is designed to attract students from a diverse range of backgrounds. In
previous years, students have attended from Biology, Ecology, Genetics, Human
Genetics, Human Sciences, Integrated Medical Students, Zoology and the Human
Evolution MSc.
Further information:
http://www.ucl.ac.uk/lifesciences-faculty-php/courses/viewcourse.php?coursecode=BIOL3012
BIOL3017: BIOLOGY OF AGEING
0.5 unit
Prof David Gems
Assessment: Unseen two-hour written examination 80%. Tutorial essays 20%
This course surveys the biology of ageing (biogerontology). It covers evolutionary
and mechanistic theories of ageing; comparative biology of ageing; the new model
organism genetics of lifespan (eg C. elegans, Drosophila); methods in ageing
research (eg microarray analysis); the biology of caloric restriction; cellular
senescence, telomeres and cancer; ageing-related disease; the biology of insulin
signalling, energy handling and associated diseases (eg diabetes and obesity); stem
cells and tissue engineering; prospects for treatments for ageing; and social and
ethical issues relating to research on ageing.
Further information:
http://www.ucl.ac.uk/lifesciences-faculty-php/courses/viewcourse.php?coursecode=BIOL30127
BIOL3017: ADVANCED MOLECUALR BIOLOGY: GENOMICS AND EVOLUTION
0.5 unit
Dr Paola Oliveri
Assessment: Unseen two-hour written examination 70%. Workshops 20%
Presentations 10%
The course will be divided into two major parts: 1) an initial part where key concepts
of gene regulation and essential molecular biology and genomic approaches will be
taught via lectures and practicals 2) a second part where specific topics will be
addressed and case studies analyzed via interactive seminars complemented with
activities (tutorials, problem based learning, workshops), in which the students will be
learning critical analysis of data and how to use genomic databases and biocomputational tools.
Further information:
http://www.ucl.ac.uk/lifesciences-faculty-php/courses/viewcourse.php?coursecode=BIOL3o24
TITLES OF PAST RESEARCH PROJECTS
Investigation of mutations in the Glycine Cleavage System protein H (GCSH) gene
and if they play any part in the development of neural tube defects
Preimplantation genetic diagnosis protocol development for the BRCA1 gene
Studying the interaction between Nrp1 and Wnt signalling in retinal vascularisation
Molecular genetics of inherited blinding disease
Retinal astrocyte vessel interactions – is Efnal involved?
The clinical utilisation of CYP2D6 testing in tamoxifen prescription for breast cancer
MLPA analysis of MFN2 and MPZ in patients with Charcot-Marie Tooth disease
Did the Anglo-Saxons migrate en masse?
Investigation of gene expression during craniofacial development
Looking at axon duplication/deletion in DOPA responsive dystonia
RECENT PUBLICATIONS (iBSC STUDENT AUTHORS IN BOLD) RESULTING
FROM THE iBSC PROGRAMME
Futema M, Shah S, Cooper JA, Li K, Whittall RA, Sharifi M, Goldberg O, Drogari E,
Mollaki V, Wiegman A, Defesche J, D'Agostino MN, D'Angelo A, Rubba P, Fortunato
G6, Walus-Miarka M, Hegele RA, Aderayo Bamimore M, Durst R, Leitersdorf E,
Mulder MT, Roeters van Lennep JE, Sijbrands EJ, Whittaker JC, Talmud PJ,
Humphries SE. Refinement of Variant Selection for the LDL Cholesterol Genetic
Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial
Hypercholesterolemia and Replication in Samples from 6 Countries. (2014)
Clin. Chem. Epub 2014 Nov 20
Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar
SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O,
Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F,
Del Giudice E, Chong WK, Pitt M, Clayton PT. Epilepsy due to PNPO mutations:
genotype, environment and treatment affect presentation and outcome. (2014)
Brain. Epub 2014 Mar 18
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I,
Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M,
Cheetham ME, Gorin MB, Hardcastle AJ. Deep intronic mutation in OFD1,
identified by targeted genomic next-generation sequencing, causes a severe
form of X-linked retinitis pigmentosa (RP23). (2012) Hum Mol Genet. Epub 2012
May 22.
PROGRAMME TUTOR: Dr Hazel Smith – [email protected] / 020 7679 3309 /
extension 40882
PROGRAMME ADMINISTRATOR: Mrs Kathryn Ball - [email protected] 020 7679
1330 / extension 31330
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Human Genetics and Genomics