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16136137
Genomics and Healthcare
Descrição
Biology Mapa Mental sobre Genomics and Healthcare, criado por Rosie Horwood em 24-11-2018.
Sem etiquetas
biology
a-level
genomics
healthcare
dmd
wjec
eduqas
cf
biology
Mapa Mental por
Rosie Horwood
, atualizado more than 1 year ago
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Criado por
Rosie Horwood
mais de 5 anos atrás
11
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0
Resumo de Recurso
Genomics and Healthcare
Human genome project + 100k project will show improvements in healthcare
More accurate diagnosis
e.g. 100k project showed two brothers suffering from peripheral neuropathy had a new mutation
Better prediction of the effect of drugs
individual genetic differences affect metabolic pathways; each patient requires a different drug dose
new and improved treatments
Next-generation sequencing (NGS) sequences genomes v. quickly, patients can have individual therapies based on their DNA sequence
Gene therapy
Somatic cell therapy targets body cells in affected tissues
genetic changes not inherited
Germ-line therapy introduces corrective genes into germ-line cells (oocyte)
inherited
genes interact with each other, some switch others on
unpredictable effects
Uses virus or plasmid as a vector, or injection of plasmid DNA
Can produce an immune response
Duchenne Muscular Dystrophy
Recessive, sex-linked
Caused by one or more deletions in dystrophin gene
Dystrophin is a structural protein in muscle
Drug drisapersen is an antisense oligonucleotide and acts an a 'molecular patch', binding to mRNA over exon with deletion
delivered to patient in subcutaneous injection
other treatment: gene therapy, stem cells
Cystic fibrosis (CF)
homozygous for recessive allele
mutant CFTR allele cannot regulate Na+ and Cl- transport in and out of cells
water cannot leave cell by osmosis so mucus becomes thick and sticky
bronchioles and alveoli become clogged = infections + difficulty breathing
pancreatic duct comes blocked, food digestion is incomplete and absorption limited = large appetites
vas deferens in males may become blocked = infertility
Liposome = hollow phospholipid sphere used as a vehicle to carry molecules into a cell
contains CFTR protein, is inhaled
treatment not cure
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