Samenvatting
Samenvatting Genetics And Public Health
- Instelling
- Vrije Universiteit Amsterdam (VU)
Summary genetics and public health + important illustrations from the lectures + question/discussion hours notes
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Voorbeeld van de inhoud
Genetics and public healthWeek 1
Lecture 1: Introduction to the course
Genetics and public health is about how to use genetic knowledge in public health (how to get the
research findings to public health). This is difficult, because many steps are needed to translate
findings to public health.
Practical issues:
- Prepare homework at home before lectures
- Assignments:
o Assignment: From bench to bedside (bench = laboratory) how to translate results
from laboratory to bedside
In subgroups
30% of the final mark
Explanation Thursday 29th of October (translation lecture, compulsory)
Self-enrollment (after the lecture on Thursday 29 th October, before 14.30):
enrol yourself for a topic with 2 people (so 3 in total).
You have to write a report, write a peer review and give a presentation
Check deadlines in schedule
o Assignment: dilemmas in decision making
Prepare before 23th of November. Watch video and answer question about
this video.
And read 3 cases on genetic testing.
o Assignment: DTC genetic testing
Before 30th of November: view 1 website offering direct-to-consumer genetic
testing with subgroup
Present finding at 30th of November
Same subgroups as assignment of ‘From bench to bedside’ (self-enrollment)
o Upload peer review, draft/final report and presentations on Canvas
- On the 3rd and the 11th of November: 2 workgroups in which the entire group is divided into
2. Check on Canvas in which group you are.
- Presence is compulsory during introduction, translatation lecture (29 th of October), all group
assignments, working lectures. If you cannot be there, send an email and you have to make
an assignment at home.
- Final mark:
o 70% exam
Multiple choice questions
Open questions
Online proctoring
No dictionaries allowed
o 30% assignment ‘from bench to bedside’
Oral presentation (10%)
Written report, including peer review (20%)
o Exam, oral presentation and written report should all be passed (5,5 or more)
- For receiving marks, you have to be present at compulsory sessions, gave a presentation,
submitted the report and peer review. If you submit a document after the deadline, 1 point
could be subtracted from final mark for the course.
- Every Thursday/Friday: meet the teacher(s), practice exam, submit your question on
Discussion bord or email l.henneman@amsterdamumc.nl
- Study material:
, o PACITA-document in some lecture you will be asked to prepare readings from this
document. PACITA = parliaments and civil society in technology assessment.
o Every lecture has articles (look at the learning goals from the lecture, these are
leading for the articles. So when reading, use learning goals to separate relevant
information from side information)
o Lecture slides
o Assignments literature used for assignments that are NOT on the literature list,
are NO study material
Topics:
A. Breast cancer
B. Folic acid: vitamin which is used in pregnancy
C. Familial hypercholesterolemia
D. Cystic fibrosis
E. Lynch syndrome (colon cancer)
F. Duchenne muscular dystrophy
Lecture 2: Meet and greet: Mendel
Learning goals:
You are able to:
- Explain the principles of monogenetic (mendelian) inheritance and illustrate them with
examples
- Create a pedigree using information about a family and calculate the risks of suffering from
or passing on an inherited disorder, in the case of autosomal dominant, autosomal recessive
and X-linked recessive transmission.
First picture:
Squares are man, circles are women
Black = affected
Firstborns on the left, youngest on the right
Pedrigree symbols
- Square is men
- Rounds is females
- Black is affected
- Half black, half white is carrier of disease / heterozygous
- Line through the square/round is death
- One line between 2 persons is couple
- Two lines between 2 persons is that person are related with each other = consanguineous
mating, in this the husband and wife are related with each other
- Black dot in the middle is X-ray
,Autosomal dominant inheritance pattern
Characteristics:
Several generations
On average 50% of children of affected parents are also affected
Inheritance from man to woman, woman to woman, man to woman, woman to man. This is
important for inheritary breast cancer. Sometimes, although men have a less likely chance to
develop breast cancer, they can still pass the affective allele to the daughters.
If one of the parents is homozygous dominant, all the children will be affected/diseased.
When you’re making a pedigree, the diseased parent will be heterozygous, because being
homozygous dominant is very rare.
Example of autosomal dominant disorders:
- Huntington disease: 100% penetrant when you have the disease you will always get the
disease
- Some disorders, like breast cancer, are non-100% penetrant, breast cancer is also dominant
disorder. Penetrant is characteristic of disease.
- Lynch syndrome is also dominant disorder
- Achondroplasia (dwarf growth) also a dominant disorder
Autosomal recessive inheritance
Characteristics of a pedigree of a family with a typically autosomal recessive inheritance pattern
- Both parents have to be carriers, to get an affected child
- Parents are healthy, so mostly unaware of the risks
- A quarter of their children are affected
- Sometimes parents are consanguineous
- Usually just 1 generation
- The half colored circles/squares are only used in recessive
- Occurs in cousin marriages
, Examples of autosomal recessive disorders:
- Cystic fibrosis (CF)
- Hemoglobinopathies (sickle cell anemia, thalassemia)
- Phenylketonuria (PKU)
Case: Peter and Daniëlle have a relationship. A nephew of Daniëlle has Duchenne Muscular
dystrophy. Peter does not want to have children if his children have a high risk to have DMD.
However, Daniëlle would very much like to have children. Cousin Edward is Daniëlle’s brother’s son.
DMD is a X-linked recessive inheritance pattern:
o If a son has it, he will always get it from his mother. So the mother is the
carrier/don’t get it from there father.
o Women are not affected: they are carrier, they can pass on the predisposition.
Usually they are not affected.
o No inheritance from man to man
o So Edward got it from his mother
o Fathers (if fertile) can have daughters who are carriers
Calculate the risk that the child of Daniëlle and Peter has DMD as well:
o In general: no increased risk on X-linked disorder if there is a healthy male in
between.
o Daniëlle’s brother has a normal X-chromosome otherwise he would have had DMD
as well.
o Edward got it from his mother (or it is a ‘de novo’ = new mutation), who is not
related to Daniëlle. So Daniëlle’s brother has a normal X-chromosome, otherwise he
would have had DMD as well.
o Therefore the risk that the child of Daniëlle and Peter have a child with DMD is 0%.
So referral to a clinical genetics center is not necessary. aN
Case: Jasper and Lisa have a relationship. The cousin of Lisa, Tim, has DMD. Jasper does not want to
have children if they have a high risk to have DMD. However, Lisa would very much like to have
children. Tim is the son of Henk and Isabelle. Isabelle is the sister of Lisa’s mother.
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