TESTBED FOR NEXT GENERATION REASEARCH & INNOVATION

Transkriptio

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2 PUBLIC-PRIVATE PARTNERSHIPS FOR NEW INNOVATIONS ACADEMIC RESEARCH INDUSTRY +

3 PHARMA R&D SPEND

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5 Important decisions in drug discovery The Problem: It difficult to develop novel therapies that differentiate from standard of care >90% of compounds in clinical trials fail due to lack of safety and efficacy Target Selection and Validation Screening Preclinical Phase I Phase II Phase III Phase IV What Target? Which Patients? Sally John, Biogen Picking the right target is the most important decision we make

6 DATA RESOURCE WITH GENOME AND HEALTH INFORMATION Very large collections combining genome data with health data is needed

7 + + + POPULATION ISOLATE HEALTH REGISTERS BIOBANKS GENOME DATA OPPORTUNITY FOR MULTIPLE STUDY DESIGNS

8 Toimimaton geeni

9 Suojaavat Geenit

10 EARLY SETTLEMENT years ago South and Coast LATE SETTLEMENT 16th century multiple bottle necks EXPANSION 18th century population Today population 5.4 million LATE SETTLEMENT EARLY SETTLEMENT

11 Population isolate Opportunity to identify disease associated low frequency variants Finns have dramatically fewer rare DNA variants than other Europeans Some specific DNA variants jump to unusually high frequencies

12 Two LPA LoF variants ( Finns) LoF variant Frequency in Finns Frequency in non Finns LPA1(4974) 2.8% 0.47% LPA2(4289) 4.8% 3.6%

13 Loss-of-function variants in LPA protects from Coronary Heart Disease Finnish enriched DNA variant lowers LPA levels

14 Loss-of-function variants in LPA protects from Coronary Heart Disease Each copy of LPA lowering variant lowers CHD risk by 15-20% Finnish enriched DNA variant lowers LPA levels

15 Two LPA LoF variants ( Finns) LoF variant Frequency in Finns Frequency in non Finns LPA1(4974) 2.8% 0.47% LPA2(4289) 4.8% 3.6% 227 Finns homozygous/compound het Linking to National Health Records No sign of increased morbidity

16 Truncating mutations in SLC30A8 seen 3x more often in healthy controls than diabetics STRONG protection against diabetes!!!

17 50% of all known Finnish R138X carriers are around Jakobstad And 12, i.e. 50% of them, seem to have a connection to an island called Larsmo

18 Recalling SLC30A8 carriers More than 75% of individuals recalled have returned for extensive phenotyping involving a test meal and numerous blood draws over three hours 73 individuals already successfully studied under this protocol Almost all are healthy controls with no selfinterest in the research

19 These provide precise clues to interventions that could be safe and effective

20 + + + POPULATION ISOLATE HEALTH REGISTERS BIOBANKS GENOME DATA OPPORTUNITY FOR MULTIPLE STUDY DESIGNS

21 NATIONAL REGISTERS

22 EXAMPLE OF HEALTH HISTORIES FROM TWO PERSONS FROM THE NATIONAL BIOBANKS WITH A 40 YEAR FOLLOW-UP

23 + + + POPULATION ISOLATE HEALTH REGISTERS BIOBANKS GENOME DATA OPPORTUNITY FOR MULTIPLE STUDY DESIGNS

24 RECALLING BIOBANK BIOBANK ACT + SOCIAL SECURITY NUMBER CLINICAL STUDIES

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27 IPHG

28 IPHG-hanke Tutkitaan noin 30 pharma kollaboraattorien valitsemaa geeniä Finrisk, Terveys 2000, HBCS, Laseri (Young Finns), NFBC kohortit (yht noin henkilöä) Hilmo, Avo-hilmo, Kela reseptilääkerekisteri, syöpärekisteri, kuolinsyyrekisteri Ei mitään datan tuottoa, käytetään vain olemassa olevaa dataa Kaikki fenotyyppejä sisältävä analysointi tehdään Suomessa, kollaboraattorit saavat ainoastaan analyysituloksia, ei yksilökohtaista tietoa

29 IPHG-hankkeen kokemuksia - Innostava pilotti, joka stimuloinut FinnGenin ja uusia partnereita (Astra-Zeneca) - Liian pieni näytekoko - > tarvitaan suurempi materiaali - Teknistä datan harmonisointia - KELA tiedot raahaavat auttamattomasti perässä, toivottoman hidasta päivittää tietoja

30 EMME OLE AINOA MAHDOLLISUUS Maailmassa lukuisia biopankkeja ja hyviä keräyksiä Lukuisat toimijat ovat aloittaneet biopankkien tehokkaan rakentamisen Meillä vahvuuksia, mutta niihin ei voi tuudittautua Ministeriöiden vuosien kova työ ja tuoreet poliittiset päätökset tärkeitä viestejä kansainväliselle kentälle

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