Genomics and Healthcare

Description

Biology Mind Map on Genomics and Healthcare, created by Rosie Horwood on 24/11/2018.
Rosie Horwood
Mind Map by Rosie Horwood, updated more than 1 year ago
Rosie Horwood
Created by Rosie Horwood over 5 years ago
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Resource summary

Genomics and Healthcare
  1. Human genome project + 100k project will show improvements in healthcare
    1. More accurate diagnosis
      1. e.g. 100k project showed two brothers suffering from peripheral neuropathy had a new mutation
      2. Better prediction of the effect of drugs
        1. individual genetic differences affect metabolic pathways; each patient requires a different drug dose
        2. new and improved treatments
          1. Next-generation sequencing (NGS) sequences genomes v. quickly, patients can have individual therapies based on their DNA sequence
          2. Gene therapy
            1. Somatic cell therapy targets body cells in affected tissues
              1. genetic changes not inherited
              2. Germ-line therapy introduces corrective genes into germ-line cells (oocyte)
                1. inherited
                  1. genes interact with each other, some switch others on
                    1. unpredictable effects
                  2. Uses virus or plasmid as a vector, or injection of plasmid DNA
                    1. Can produce an immune response
                    2. Duchenne Muscular Dystrophy
                      1. Recessive, sex-linked
                        1. Caused by one or more deletions in dystrophin gene
                          1. Dystrophin is a structural protein in muscle
                            1. Drug drisapersen is an antisense oligonucleotide and acts an a 'molecular patch', binding to mRNA over exon with deletion
                              1. delivered to patient in subcutaneous injection
                              2. other treatment: gene therapy, stem cells
                              3. Cystic fibrosis (CF)
                                1. homozygous for recessive allele
                                  1. mutant CFTR allele cannot regulate Na+ and Cl- transport in and out of cells
                                    1. water cannot leave cell by osmosis so mucus becomes thick and sticky
                                      1. bronchioles and alveoli become clogged = infections + difficulty breathing
                                        1. pancreatic duct comes blocked, food digestion is incomplete and absorption limited = large appetites
                                          1. vas deferens in males may become blocked = infertility
                                        2. Liposome = hollow phospholipid sphere used as a vehicle to carry molecules into a cell
                                          1. contains CFTR protein, is inhaled
                                            1. treatment not cure
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