Overview and status January 2019

Daniel Vonder Mühll, Executive Director PHRT

PH Alliance Basel-Zurich. 3rd workshop | Basel | January 29, 2019

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From where the ETH/EPF institutions come…1870 1900

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1960

2000

From where the ETH/EPF institutions come…

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From where the ETH/EPF institutions come…

EPF Lausanne

PSI VilligenEMPA St. Gallen

ETH Zurich

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Personalized Health activities in Switzerland

6«science & engineering» «medicine & clinic»

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titleProject categories, number of approved projects

• Interdisciplinary doctoral student and postdoctoral fellowshipsnext generation of PH researchers

• Genomics platform, western Switzerland• Proteomics platform, eastern Switzerland• 10’000 samples per year capacity

technology user facility

• Translate pioneering technologies to “clinical level” of performance clinical tool, new techology platform

• Research projects with high direct clinical relevance‘understand’ human body

PM/H Research Projects ~ 24 million

Technology Translation Projects~ 9 million

Technology Platforms~ 10 million

Education / Fellowships~ 5 million

7

1st call

8+4

2

8

3+4

27

2nd call

7+6

8

1+2

24

25

2

16

10

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PHRT Technology Platforms

8

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PHRT interactions

intXYZPM/H Research Projects

~ 24 million

Technology Translation Projects ~ 9 million

Technology Platforms~ 10 million

Education / Fellowships~ 5 million

9

25

2

16

10

2

4

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PHRT pioneer projectsPatient fibroblasts from Mut-type (methylmalonyl-CoA mutase associated)

methylmalonic aciduria as a case-control study

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PHRT pioneer projectsSample delivery to the Genome Center & MS platform 230 frozen fibroblast cell lines have been provided 150 patient cell lines with mut-type methylmalonic aciduria 50 cell lines that are well characterized with published mutations 100 cell lines that have been biochemically diagnosed

60 patient cell lines with methylmalonic aciduria of unknown origin 20 control cell lines

Each cell line has been provided in triplicate aliquots, 1 aliquot for each analysis type (690 total)

Sample name, type (disease/control), gender, passage number and date of freezing has been provided

Further information (biochemical values; age of onset; clinical values for some) can be provided going forward

Sean Froese, KiSpiZH

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PHRT projects and domainsTotal Driver Research iDoc TPdF TechTranslat.

Cancer 19 2 3 8 4 2

Metabolism 5 0 1 1 2 1

Bone 4 0 0 3 1 0

Neurodegeneration 3 0 0 0 2 1

Cardio 2 1 0 1 0 0

Stroke 1 0 1 0 0 0

Sepsis 1 1 0 0 0 0

Methods 16 0 1 2 1 12

Total 51 4 6 15 10 16

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International collaborations: NIH ICPC

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