Project Mine: an Interna'onal ALS Whole Genome Sequencing Ini'a've

Project MinE: an internaonal ALS whole genome sequencing iniave

Leonard H van den Berg UMC Utrecht, The Netherlands Aim

• To ﬁnd an eﬀecve treatment and cure for ALS paents • ALS one disease, one treatment • ALS mulple diseases, mulple treatments

• Genecs: subgroups, straﬁcaon, disease mechanisms, biomarkers, disease models, etc

1/21/15 2 ALS

• Familial (Mendelian) • Sporadic

Environment, Genes lifestyle

Disease

Disease Twin studies: 61% heritability Aim Project MinE

• Elucidate the genec basis of ALS: a ‘human genome project’ for ALS • Idenfy common as well as rare genec risk factors with high, intermediate and low risk for ALS • Establish a database of genec variants from various backgrounds beneﬁng ALS research for years

1/21/15 4 Spectrum of genec variants

1/21/15 5 Common variants with small eﬀect: GWAS

1/21/15 6 Aim

• Whole genome sequencing: 15,000 ALS paents and 7,500 controls (+ imputaon)

7 Patient-driven

www.projectmine.com • Iniated by 2 paents • Started with fundraising in The Netherlands

1/21/15 9

Internaonal approach

• Consorum of researchers • Consorum of fundraisers, charies

1/21/15 12 12 Internaonal approach Project MinE

• Worldwide collaboraon between ALS centers and foundaons • Groundbreaking scale • Only a mulnaonal approach in various populaons will generate signiﬁcant results • Combinaon of ALS biobanks/paent databases worldwide: unique opportunity for already established databases/ biobanks. • Reducon of whole genome sequencing costs by combining eﬀorts (ered pricing model)

1/21/15 13 Internaonal approach Project MinE

• Internaonal campaign for funding (‘sponsor a genome’) has proven to be successful: raised awareness, raised funding for Project MinE, raised funding for ALS in general • Decentralized organizaonal structure: researchers/charity in each country remain in charge of their own data, funding, campaigns, etc • For example: Belgium sponsors for Project MinE donate to ALS Liga • Discovery of ALS genes will help to idenfy disease pathways necessary to develop treatment for paents • Raising hope for ALS paents

Website for collaboraon & fundraising: www.projectmine.com

www.projectmine.com

What can you do?

• Make a donaon at www.projectmine.com/donate

• Start a campaign to raise funds on www.projectmine.com/campaigns, for example run 5 km/10 km/a marathon, cycle, swim and get sponsoring, sell cookies and donate the proﬁt, Edwin ran a marathon for Project MinE organise an evening with bands/music and donate the proﬁts, etc.

• Involve your employer and raise funds by for example not sending Christmas cards to business contacts this year but instead donate to Project MinE, Ineke convinced her employer to support organise a charity volleyball Project MinE tournament with your company, organise a charity aucon, etc. www.projectmine.com Project MinE: an internaonal ALS whole genome sequencing iniave • Project MinE Netherlands ALS Found Van den Berg, Veldink • Project MinE UK MNDA Al-Chalabi, Shaw, Morrison • Project MinE US ALSA Landers, Glass • Project MinE Belgium ALS LIGA Robberecht, Van Damme • Project MinE Ireland Irish ALS Hardiman • Project MinE Australia MND Aus Blair, Kiernan • Project MinE Switzerland Swiss ALS Weber • Project MinE Israel Prize4life Gotkine • Project MinE Spain FUNDELA Mora Pardina • Project MinE Portugal APELA Carvalho • Project MinE Sweden Neuroforb. Andersen • Project MinE Italy ARISLA Chio, Silani • Project MinE France ARSLA Corcia, Couraer • Project MinE Germany Ger ALS Weishaupt • Project MinE Turkey Turk. ALS Basak • Project MinE …………………… 1/21/15 18 Where is Project MinE • Consorum and datasharing agreement • Core clinical dataset • Environment/lifestyle quesonnaire • Legal issues • Datastorage, computaon power • GWAS analyses ongoing • 6000 genomes • 16,500 to go…..

1/21/15 19

www.projectmine.com 1/21/15 21

Video’s

https://www.youtube.com/watch?v=n9DEXVtsszI - t=11

http://www.youtube.com/watch?v=naxl74JakQk&hd=1

http://pauwenwitteman.vara.nl/media/313165

http://vimeo.com/90307659

https://www.youtube.com/watch?v=nJrMQ5Al4ro

www.projectmine.com http://www.projectmine.com/country/belgium/ Unravel the complexity of ALS

Neuro- Phenotype imaging

Patient

Homepage for paent ALS-FRS-R

• www.tricals.com

• A plaorm for paent-oriented research www.projectmine.com facebook.com/MinEMakeitYours twier.com/_MakeitYours