ערב הורים בנושא גנטיקה נערך ע"י עמותת אשכולות בעמק ובהר בשיתוף עמותת דור לדור בעפולה. בערב הרצה פרופ' בורוכוביץ בפני המשתתפים על העולם הגנטי ועל הייעוץ הגנטי אותו כדאי לקבל

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¯ mdzvi@technion.ac.il
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2. The Problem With an Almost-
Perfect Genetic World
Nov. 2005

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4. ¯

5. 2010
6000 - •
' 25 •
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35 ,

6. <---
Natural history <---
Recurrence risk <---

7. 3-5% -
•
•

8. 20% - Single gene defect –
5% -
*
- *

9. 5% -
Y

10. Jan. 17, 1994

11. 2003
DNA : ~ 30,000 genes
RNA: at least 100,000 transcripts?
Proteins: millions

12. Haemophilia Peptic ulcer
Osteogenesis imperfecta Diabetes
Duchenne Club foot
muscular dystrophy Pyloric stenosis Tuberculosis
Dislocation of
hip
GENETIC ENVIRONMENTAL
Scurvy
Spina bifida
Ischaemic heart disease
Phenylketonuria
Ankylosing spondylitis
Galactosaemia

13. 30% - .1
(DS - ) 10% -
(FRAX - ) 15% -
5% -

14. 20% - .2
1% -
12% - -
7% -

15. ? 50%

16. ......

17. ....
US
X
CMV
A-CGH
SMA
-

18. -
DS-
PGD - US
- -

19. Phenylketonuria
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Maple Syrup Urine disease-MSUD
Homocystinuria
Tyrosinaemia Type 1(Hepatorenal tyrosinemia)
Methylmalonic Acidaemia
Propionic Acidaemia
Glutaric Aciduria Type 1
Medium chain acyl-CoA dehydrogenase
deficiency
Very-long-chain acyl-CoA dehydrogenase
deficiency (VLCAD)
--------------------------------------------------------------------
Hearing screening

20. –
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21. –
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23. •
?
Haemophilia Peptic ulcer
Osteogenesis imperfecta Diabetes
Duchenne Club foot
muscular dystrophy Pyloric stenosis Tuberculosis
Dislocation of
hip
GENETIC ENVIRONMENTAL
Scurvy
Spina bifida
Ischaemic heart disease
Phenylketonuria
Ankylosing spondylitis
Galactosaemia

24. :
" , "
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, ¯
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