1. Higher Human Biology Sub topic 5 (a)
Human Genomics
Higher Human Biology
Sub topic 5 (a)

2. Learning Intention Describe the human genome project
Explain what DNA sequencing is
Explain what biomatics and systematics is
Discuss pharmacogenetics and ethical issues

3. So …What’s the future of medicine?

4. What is the Human Genome?
Genome – the whole hereditary information of an organism that is encoded in the DNA.
Genomics is the study of the genome.
It involves determining the sequence of the nucleotide base molecules along the DNA
The sequence of bases can be determined for individual genes and entire genomes
- a quick look at SNPs

5. The Human Genome Project
The human genome project began in 1990 and was completed on 14th April 2003.
The main aims of the project were:
To identify the approximate 100,000 genes in the human DNA.
Determine the sequences of the 3 billion bases that make up human DNA.
genome sequencing animation
sequencing

6. What comparing genomes using SNP’s can tell us.
SNPs are SINGLE NUCLEOTIDE POLYMORPHISMS
They act as predictive markers that give info on :
specific diseases
effectiveness of various drugs
linked to a particular drug response
linked to the risk for getting a certain disease.
how active a gene is ( how often it is switched on or off )

7. Bioinformatics
Statistics
Molecular biology
Computers

8. Bioinformatics
Bioinformatics is the sequencing of DNA using computer analysis.
Individual gene / base sequences (and their roles) can be searched for e.g.
Protein coding sequences (same as or similar to those present in known genes)
Start sequences – these help find the start of a gene being searched for
Long sequences that lack stop codons - these often encode whole genes

9. Systematics
The study of a group of living things with respect to their diversity, relatedness and classification.
Data is obtained by comparing human genome sequences and used to study the origins of modern human and their evolutionary relationships.
It can be used to track the origins of disease as well.
The human race has only a difference of about 0.3% in their DNA. This is lower compared to other primates (orang-utans 5%)

10. Early Human Migration

11. Systematics shows there is most genetic diversity in Africa and only a little in the other continents.

12. Mitochondrial and Y-chromosomal DNA
Mitochondrial DNA is only maternal
Y-chromosomal DNA is only paternal
Supports the ‘out of Africa’ theory
human and chimp

13. Personalised Medicine

14. Personalise Medicines
Personal genomics is the sequencing of an individuals genome.

15. Personalise Medicines
Genetic disorders are due to variations in code
Mutant variations are identified as harmful or neutral
Around 2200 disorders have been identified but producing treatment is difficult as….
disorders are due to genetics AND THE ENVIRONMENT

16. Pharmacogenetics
The study of the effects of pharmaceutical drugs on genetically diverse members of the human population.
It has shown us that the same drugs have different effects depending on our DNA
The aim is to use genomic info to customise medicine to match a person.

17. Rational Drug Design What does it do?
It binds to the particular region of DNA in the mutant gene that is causing the genetic disorder and prevents transcription of abnormal mRNA
It binds to the abnormal mRNA preventing translation of abnormal proteins
It binds to and renders inactive the protein whose presence would cause the genetic disorder

18. The drug imatinib was produced to treat chronic myeloid leukaemia because it binds with tyrosine kinase and renders it inactive

19. The future

20. The future…………………
Diabetes, heart disease, cancer and schizophrenia are linked to variations in DNA.
Individuals will be able to have their genome scanned to determine if they are likely to develop a disease/disorder and prevent risk early.
e.g. breast cancer

21. Ethical issues Who has access to the info?
Are people likely to suffer genetic discrimination?

22. Learning Intention Describe the human genome project
Explain what DNA sequencing is
Explain what biomatics and systematics is
Discuss pharmacogenetics and ethical issues

23. Extra clips about personalised medicines…………....
Nice overview of protein structure and drug interactions
( first couple of minutes )
Use of Small Interfering RNA complex to silence gene ( mutant gene silenced by sRNA complex) and gene silenced. No detail required just general idea