Human Genetics GN.pdf

In partnership with Human Genetics Relevance in Dentistry Jiann Khaw Tutor Dentist  A brief introduction to The human genetics and its Aim relevance in dentistry 2 Learning Outcomes: At the end of this session, you should be able to: 1.Describe b...

In partnership with Human Genetics Relevance in Dentistry Jiann Khaw Tutor Dentist  A brief introduction to The human genetics and its Aim relevance in dentistry 2 Learning Outcomes: At the end of this session, you should be able to: 1.Describe basic principles of human genetics Loading… 2.Identify the impact of gene mutation in humans 3.Recognise the relevance of human genetics in dentistry GDC Learning Outcome: 1.1, 1.1.3, 1.7.2, 7.1, 7.2 C1.4, C1.5, C1.32, C2.2.1, P1.5 3  Human Genetics Introduction to Basic Principles 4 "DNA strand" by M Pinarci is licensed under CC BY 2.0  I heredity from whats another. generation to Loading… Genomics vs Genetics Why have this distinction Image source: Genomics Education, Health Education England 5 Impact of Human Genome Project on Healthcare The Human Genome Project Timeline and History (Image source: www.genomicsforeveryone.org) 6  Mendel’s Principle of Inheritance Image source: Sciencia58 , CC0 Characters (phenotype) are distinct red flowers Genetic characteristic (alleles) have alternate forms - with red white Phenotype + Phenotype reflects ‘dominant’ allele Random segregation of alleles -reappearance of recessive trait. red-I dominant 7 30% red withmixed allee 25 % white - T recessive  Human Chromosomes Key facts: 23 pairs of chromosomes Each half is inherited from both parents Each chromosomes have multiple genes Each gene is sequenced by DNA – AT, GC 8  Purpose o Gene? 9 Image Source: Glick (2015) in Burket’s Oral Medicine  Stimulates proteins or supresses multiplication cells of Purpose of a gene? ↓ effects development and function Of Blueprint codes to create proteins cells in body (DNA. ) Effect on development Determines structure of protein Controls where, when and quantity of protein needed and function of the body/cell Proteins are important for : Cell function of body -repair tissues Bioactivity - -enzymes which causes chemical reaction (e.g. starch 10 digestion) Protein Synthesis Watch animated video - Click on link below to access ‘The animated genome’ by Sanan Media: Loading… https://www.unlockinglifescod e.org/media- gallery/animated-genome (Accessed: May 2024) Image source: BBC Bitesize 11 Proteins acting on stem cells leading to other cell formation, differentiation and function 12  Human Genetics Impact of Variant or Mutation 13 "TAGTAT" by francisco.j.gonzalez is licensed under CC BY 2.0 Why gene variant or mutation occurs? Non-Inherited Inherited Occurs in somatic cells (somatic variants) Passed from parent to child Occurs at some point in an individual’s life Variant gene was present from birth Variants cannot be passed to child Phenotype not expressed if recessive gene Caused by environmental factors (e.g. X- Individual may be a carrier radiation in medical examination, UV from sun) Error in DNA replication during cell division 14 I m a g e S o u r c e : G l 5 types of Mutation i c k ( 2 0 1 5 - No change to encoded amino acid ) i n sequence B u r - Single change to encoded amino acid sequence k e - missence. t Translate ‘STOP’ codon, leading to nonsend ’ - s - O r a truncation of amino acid sequence l M e d - Change in encoded amino acid i c sequences at point of mutation leading to formation of different codons i n e 15 Medical Condition Single Gene Change I m a g e s o u r I c m e a g Cystic Fibrosis - : B e s mutation of both B C o u copies of CF N e r c Transmembrane w s e : Conduction Regulator d Huntington’s Disease– x [CFTR] l mutation in Huntington Gene i affects long tissue Image source: HBO n [HTT] e Achondroplasia -mutation of Fibroblast. i + digestive system. Growth Factor Receptor 3 [FGFR3] neurodegenerative disease. n physical of dwarfism 16 f outcome Damages to brain cells o ↳ Medical Condition Genetic variant (or defect) "Si ckl e cell blo od sm I ear m s" a by g sc e I oot s m erd o a mu u g is r e lice c s ns e o ed : u un W r e Down Syndrome –Trisomy 21 der c Haemophilia –X-linked e Sickle Cell Anaemia C C l l presence of extra chromosomes in 21. : recessive non-functioning B B –autosomal recessive BY 2.0 c o E gene delay in physical - mental development m C Beta-globin gene Y e C * affects affects clotting factor. I o Inherited l causes excessive bleeding shape of red blood all l genetic e 17 c · or longer for bleedingto stop. condition. t i Dental Condition Some examples resulting from genetic condition Hypodontia missing teeth- Hyperdontia (Supernumery) small teeth Microdontia extra large teeth - Macrodontia large tongue- Macroglossia (Ds) S condition Amelogenesis Imperfecta genetic effecting development of enach Dentinogenesis or dentine Imperfecta 18 Explore further impact of human genetics: https://podcasts.apple.com/gb/ podcast/episode-4-the-genetic- revolution- implications/id1539658870? i=1000654905473 (Accessed: May 2024) https://www.bbc.co.uk/programmes/m000sthc Click on link to watch: BBC documentary on DNA Family Secrets Hosted by Stacey Dooley (Accessed: May 2024) 19  Human Genetics Relevance in Dentistry 20 "A Unique Routine for Preparing for the Dentist Office" by idaknight316 is licensed under CC BY 2.0 Relevance of Genetics in Dentistry Professional development Care provision Legal, Ethical & Social Image source: NHS England 21  Relevance of Genetics in Dentistry Professional Influences on human development Recognise origins of effects seen development clinically Care provision Aid in diagnosis of disease condition Legal, Ethical & Social Anticipate care options Communicate with healthcare colleagues Genomic services and associated infrastructure ↓ direct patients to see further. help 22  we up to date so Professional development: Keep CPD+ knowledge best care for these can provide the I challenging patients. How is virus DNA used Covid-19 Hypodontia – common in Down Syndrome Vaccination to create safe microdontia - managing oral health condition. vacinations. ete. 23  Relevance of Genetics in Dentistry prevention is better that cure. · Provide personalized dental came. Professional development Routine dental care for patient with genetic conditions Care provision Discussion about dental condition related Legal, Ethical & Social to genetics Risks – condition, care modalities, susceptibility vs resistance to caries + perio. Saliva Test kits – Caries risk, Periodontal Disease risk, Cancer risk, etc. Availability? Safety? Validity? Effectiveness? 24 Care provision: Brinkley et al. (2009) JADA, 140 (7): pp.896-905. 25  Relevance of Genetics in Dentistry Professional development Privacy of genetic information Affordability & Access = Fairness? Care provision Social + Emotional support for patients & Legal, Ethical & Social carers Genetic counselling = risk to unborn child aware of laws that govern patients genetic information. Holistic care. 26  Gene Therapy Press Association (2021) Weston (2021) in The Roberts (2024) in BBC News - Click here for full Guardian News - click - click here for full article. article. here for full article. (Accessed: May 2024) (Accessed: May 2024) (Accessed: May 2024) 27 Principles of Function of functions inheritance Proteins protei Human Genetics Relevance Summary in Mutation Mutation Link to: Dentistry and and Variants Variants Embryology Oral Diseases Cell body development Adaptation of diagram by 28 S.Balian (2021)  Bibliography for this presentation: 1. Brinkley, C.J., Beacham, A., Neace, W., Gregg, R., Liem, E. and Sessler, D. (2009) Genetic variation associated with red hair color and fear of dental pain, anxiety regarding dental care and avoidance of dental care. JADA, 140(7), pp. 896-905. DOI: 10.14219/jada.archive.2009.0283 2. Hart, P.S. and Hart, T.C. (2016) Invited commentary: The need for human genetics and genomics in dental school curricula. Mol Genet Genomic Med, 4, pp. 123-125. DOI: 10.1002/mgg3.216 3. Neves, V., Pugh, J. and Savulescu, J. (2021) Beyond oral hygiene, are capacity-altering, biologically based interventions within the moral domain of dentistry?. Br Dent J, 231 (5), pp. 277–280. DOI: Loading… 10.1038/s41415-021-3335-y 4. Siddique, N., Raza, H., Ahmed, S., Khurshid, Z. and Zafar, M.S. (2016) Gene Therapy: A Paradigm Shift in Dentistry. Genes, 7 (11), 98, pp. 1-12. DOI: 10.3390/genes7110098 5. Slavkin, H.C., Navazesh, M. and Patel, P. (2015) Basic Principles of Human Genetics: A Primer for Oral Medicine, in Glick, M.(Ed) Burket’s Oral Medicine. 12th Edition. USA: People’s Medical Publishing House, pp. 625-652. 6. Waugh, A. and Grant, A. (2018) Chapter 17: Introduction to genetics. Ross & Wilson Anatomy And Physiology In Health And Illness. 13th Ed. Edinburgh: Elsevier, pp. 475-486. 7. Williams, L.A., Davis-Dusenbery, B.N. and Eggan, K.C. (2012) SnapShot: directed differentiation of pluripotent stem cells. Cell, 149 (5), pp. 1174-1174.e1. DOI: 10.1016/j.cell.2012.05.015. 29  Human Genetics Student Activities 30 "DNA strand" by M Pinarci is licensed under CC BY 2.0  Moodle Activities: 1. Share one foreseeable challenge in providing oral health care for a patient with Treacher Collins or Down Syndrome in the group discussion forum 2. Complete the quiz section to test your knowledge on this session 31 "Victorian Dentist - II" by thy is licensed under CC BY