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G and H > future therapies and technologies > Flashcards

future therapies and technologies Flashcards

week 12

1
Q

What diseases have an excellent potential to be treated by gene therapy and why?

A

recessive

loss-of-function mutations so replacing defective gene eliminates symptoms

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2
Q

What Autosomal dominant diseases will gene therapy work for?

A

NFM and retinoblastoma

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3
Q

Why aren’t dominant diseases effective in gene therapy?

A

most involve gain-of-function

more = worsen disease

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4
Q

Somatic vs germ-line gene therapy

A

Somatic: inserting normal gene so that these cells will make missing gene product

Germline: corrections made or extra genes added to germ line

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5
Q

What is the issue with the mechanical/chemical methods of gene therapy?

A

lacks specificity

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6
Q

How do liposomes deliver gene therapy?

A

Liposomes: lipid membrane microspheres with DNA –> merge cell memebrane and deliver DNA

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7
Q

How do microprojectiles deliver gene therapy?

A

gold coated DNA –> mechanically ‘shot’ –> some randomly integrate

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8
Q

what is the suitibiility of:
a- ex vivo
b- in situ
c- in vivo

for CF?

A

a- not good

b-good but not great as CF is a multisystem disorder

c- best as a vector is introduced to body and homes in on damaged cells.

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9
Q

What was the first approved gebe therapy and:

what did it treat:
what vector did it use:

A

what treat: LPL deficiency

vector: adenovirus

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10
Q

what are the two chromosomal therapies?

A

XIST- inactivates chromosomes
HAG - Human Artificial Chromosomes

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11
Q

What are the two methods of tissue engineering and what is the ADVANTAGE of it?

A

Biopsy –> culture cells on scaffold = graft

Genetically identical

(no rejection issues)

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12
Q

what are the two methods to produce 3-person babies?

A

embryo repair work
egg repair work

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13
Q

Embryo repair work

A

2 embryos formed (parent and donor)

(the bad mitochondria of the mother stay but take the nucleus and put it in donor one with good mitochondria)

Parent pronuclei replace donor pronuclei in donor embryo

Healthy embryo implanted

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14
Q

Egg repair work

A

egg from mother and donor

Genetic material REMOVED from both eggs

Mother’s genetic material inserted into donor egg (can be fert)

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15
Q

How does CRISPR-Cas 9 work?

A

clustered regularly interspaced short palindromic repeats

edit the genome (and potentially epigenome) by gRNA guiding a Cas9 enzyme to target and cleave DNA

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16
Q

what are the problems with CRISPR?

A

Lack of specificity of gRNA

Timing (best time to cut DNA)

Off-target effects:

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17
Q

What are off-target effects in relation to CRISPR?

A

unintended changes in DNA seq from editing in regions outside the targeted area.

18
Q

what is the treatment for:

a- recessive

b-trisomy

c-epigenetic

A

a- replace defective diseases

b- insert XIST gene on chromosomes

c- cut histone tails and CpG islands

19
Q

what is a benefit and a disdvantage of 3-person babies do

A

prevents transmission of mitochondrial mutations (not mother to mother)

no longer trace maternal ancestry

20
Q

Treatment for:

a- cystic fibrosis

b- Down/patau/ Edwards

c- Prader-wili/ Angelman

A

a- In vivo gene therapy

b- Gene therapy or CRISPR

c- HAG or CRISPR- Cas 9

21
Q

Treatment for:

A- B-thalassemia

B- HIV

C- Retinoblastoma

A

A- Ex vivo blood cell therapy or CRISPR Cas-9 (hemoglobin switching)

B- CRISPR Cas-9

C- In-situ (eye) gene therapy

22
Q

What is the best treatment for:

A- leigh syndrome

B- Huntington’s disease

A

A- 3 parent baby

B- RNA interference on mRNA of HTT

23
Q

What are the different types of stem cells?

A

Embryonic stem cells

Adult (s0matic) stem cells

Induced pluripotent stem cells (iPSCs)

24
Q

What are the essential properties of stem cells?

A

Self-renewal

Differentiate into different cell types

25
Q

What are embryonic stem cells?

A

Can become any cell in body (toti or pluriopotent)

26
Q

Characteristics and function of Adult stem cells (somatic)

A

Exist naturally in body, maintain and repair tissues

Multipotent

27
Q

Induced pluripotent stem cells (iPSCs)

A

Made via reprograming of an individuals own differentiated cells

Add 4 genes –> All genes available

28
Q

How us DNA Microarray achieved?

A

Denature DNA

Mix probe and sample together

Binding indicated by signal

29
Q

What are the two types of DNA microarray?

A

Expression profiling

Mutation profiling

30
Q

purpose of Expression profiling vs mutation profiling

A

EP = com[ares relative gene expression

MP= detects polymorphisms

31
Q

what are the only two offences under Prohibition of Human Cloning for Reproduction Act 2002

A

Creating or developing a human embryo by fertilization that contains genetic material provided by more than 2 people

Heritable alterations to genome.

32
Q

What are the ethical issues surroinding gene therapies

A

Sacrifice embryo for embryonic stem cell

Altering germline

Stem cell toursim

33
Q

Briefly describe the main strategies used for gene therapy.

A

Ex vivo- target cells are removed from tge body, cultured with vector then re-inserted

In situ- target tissie is dirtectly exposed (useful when only one tissue affected)

In vivo - vector introducted to body non-specifically and targets site in body.

34
Q

What does CRISPR stand for and what RNA is used in it?

A

Clustered Regularly Interspaced Short Palindromic Repeats.

RNA = gudie RNA or gRNA

35
Q

What is:
T- totipotent
P- plurioptent ‘
M- multipotent

A

T= stem cell that can develop into a completely new oragnism, all cell types including extra-embrynic cells of placenta

P= stem cell that can give rise to all cell types but CANT form a new organism

M= stem cells that can deveop into more than 1 cell type but more limited than P.

36
Q

What can microarray technology be used for?

A

1- detect presence of polymorphsism (SNPS)

2- assess relative expression of genes present in a articular sample via deerming if mRNAs are present or absent between two different samples

37
Q

What is attached to an expression microarray slide or DNA chip?

A

many thousands of different DNA probes in a grid, each represents a single gene, each spot has mamny copies of the same DNA probe

38
Q

What chromosomes is the XIST gene on and what is its role?

A

X chromosome

involved in X-inactivation and result in Barr Body formation

39
Q

haploinsufficiency

A

one degenerative allele is enough to cause the disease

40
Q

What was the name of the first EMA approved gene therapy?

A

Glybera

41
Q

cDNA is copied from what?

A

mRNA

42
Q

What is a major benefit of CRISPR-Cas9 over older gene therapy tools?

A

it delivers a gene to a specific location in the genome.

G and H (16 decks)

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