16136137
Beschreibung
Mindmap von Rosie Horwood, aktualisiert more than 1 year ago
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Erstellt von Rosie Horwood
vor etwa 6 Jahre
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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
- 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
- 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
- More accurate diagnosis
- Gene therapy
- Somatic cell therapy targets
body cells in affected tissues
- genetic changes not inherited
- 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
- unpredictable effects
- inherited
- Uses virus or plasmid as a vector, or
injection of plasmid DNA
- Can produce an immune response
- Somatic cell therapy targets
body cells in affected tissues
- 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
- delivered to patient in
subcutaneous injection
- other treatment: gene
therapy, stem cells
- Recessive, sex-linked
- 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
- bronchioles and alveoli become
clogged = infections + difficulty
breathing
- water cannot leave cell by osmosis
so mucus becomes thick and
sticky
- Liposome = hollow phospholipid
sphere used as a vehicle to carry
molecules into a cell
- contains CFTR protein, is inhaled
- treatment not cure
- treatment not cure
- contains CFTR protein, is inhaled
- homozygous for recessive allele
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