EFTA00378352.pdf

From: Joseph Thakuria To: Lesley Groff <1 Subject: Re: Jeffrey Epstein-Coordinate Payment Date: Tue, 03 Dec 2013 21:48:33 +0000 It's exciting since with the exception of the clinical whole genome (that Illumina has offered for years but at a very low volume due to cost and very limited clinical indication (for now)), the other stuff (including the clinical exomes) hasn't really even been around beyond a year or so. The iPS cell lines would have been something you could only get from a handful of labs worldwide and, even then, the researchers would most likely be prioritizing their own projects - not doing "one-off" individualized cell lines for interested parties. Anyway, I'll make sure he gets access to the latest and greatest and he can choose those things that are of the greatest scientific and personal interest for him from the list. Maybe along the way also help some of these kids with genetic disorders that we haven't been able to molecularly diagnose through conventional Sanger sequencing at MGH. Cheers, Joe On Tue, Dec 3, 2013 at 4:36 PM, Lesley Groff > wrote: thanks so much for this Joe...we will await an invoice...and I'm sure Jeffrey will get back to you on all of this. Lesley On Dec 3, 2013, at 4:24 PM, Joseph Thakuria wrote: Hi Lesley (and Jeffrey), I was hoping to have a draft invoice ready today for Jeffrey's review but can I get another 24-48hrs to work on this? I'm going to put together costs for: a) whole genome sequencing through illumina b) bioinformatic support for JE's wgs data c) iPS cell line (ie, adult stem cell) generation from the pro bono fibroblast cultures I made from his skin biopsy +1- if he's interested further differentiation of these iPS cell lines to iPS-derived neurons (as a way to study Jeffrey's brain cells without undergoing brain biopsy). d) perhaps if there's some funds remaining within the numbers he mentioned over the phone last night, throw in a few clinical exomes for 2-3 of my indigent medical genetics pediatric patients at mgh who I know could potentially benefit greatly from having their exome sequenced (which is cheaper than the whole genomes; and the part I focus the bulk of my analysis on anyway) but whose insurance I know will not cover it (and I also know their parents will definitely not be able to pay out of pocket). Once I get this draft invoice over to you, I can discuss further with Jeffrey briefly over the phone if he's available and he'll be able to choose from options ranging from getting only his getting his whole genome sequenced to some combination (or all) of the above. This probably goes without saying but I would also be happy to cite Jeffrey's foundation with respect to any publication's coming out of any of the data generated through his funding. (And, even in my early stage career, I already have a good track record of medical genomic publications. I also just wrote the Clinical Interpretation of Genomic Data chapter for the recently published American College of Physicians textbook, EFTA00378352 Clinical Genomics (the first and only medical genetics/genomics textbook put out by the ACP to my knowledge). http://www.mcgrawhill.ca/professional/products/9780071622448/ Exciting times. More to follow soon once I have pricing and turn around times for everything. Onward, Joe Joseph V. Thakuria, MD, MMSc Medical Genetics and Metabolism Attending Physician Director, MGH Stickler Syndrome Program Harvard Catalyst CRC Protocol Review Committee MGH Center for Human Genetics Research Massachusetts General Hospital 185 Cambridge St., Rm. 2222 Boston, MA 02114 Office: Fax:' email The information in this e-mail is intended only for the person to whom it is addressed. If you believe this e-mail was sent to you in error and the e-mail contains patient information, please contact the Partners Compliance HelpLine at http://www.partners.org/complianceline . If the e-mail was sent to you in error but does not contain patient information, please contact the sender and properly dispose of the e-mail. On Tue, Dec 3, 2013 at 10:11 AM, Lesley Groff < wrote: Hello Joe. Jeffrey asked that I contact you regarding coordinating payment for his gene work....just send me the details and I will have our accounting department take care of things. Thanks, Lesley Assistant to Jeffrey Epstein EFTA00378353 EFTA00378354