Grants - AWARD SUMMARY


EMORY UNIVERSITY


Epigenetic Marks as Peripheral Biomarkers of Autism Autism spectrum disorders (ASD) are a common phenotype with a complex etiology. While a rare single gene or genomic interval may be sufficient to lead to ASD, most patients likely owe their disease to a combination of both genetic and environmental variation. One area that bridges genetic and environmental influences is epigenetic variation. Seeking evidence for epigenetic variation specific to ASD, we screened 49 ASD males and their unaffected fathers for methylation status of 1,505 CpG dinucleotides corresponding to 807 genes. Using 33 pairs as a training set and 16 pairs as a validation set, we statistically identified 116 differentially methylated loci (DML) that gave the highest predictive power to classify ASD boys from their fathers. Using these DML, we screened, in a blinded fashion, DNA isolated from whole blood in an additional 29 ASD son/unaffected father pairs and correctly classified ~80% of the ASD affected individuals. We validated a subset of these loci using bisulfite sequencing and ruled out age-dependent effects. To follow-up on this extraordinary observation, we propose here to conduct a comprehensive genome-wide methylation analysis that will interrogate 27,578 CpG dinucleotides associated with more than 14,000 genes in DNA isolated from whole blood in 300 ASD Simons Simplex 4-person families (father, mother and discordant male sib pair). Using this data, we will then construct a smaller custom set of DML and screen an additional 900 ASD probands and their families. This analysis will directly test our provocative preliminary data and potentially identify DML that could compromise a peripheral biomarker assay for ASD.

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AWARD OVERVIEW

AWARD OVERVIEW
Award Number 1R01MH089606-01 Funding Agency Department of Health and Human Services
Total Award Amount $3,148,467 Project Location - City Atlanta
Award Date 09/28/2009 Project Location - State GA
Project Status Completed Project Location - Zip 30322-4250
Jobs Reported 0.00 Congressional District 05
Project Location - Country US

Recipient Information (Grants)

Recipient Information (Grants)
Recipient Name EMORY UNIVERSITY
Recipient DUNS Number 066469933
Recipient Address 201 DOWMAN DR
Recipient City ATLANTA
Recipient State Georgia
Recipient Zip 30322-1018
Recipient Congressional District 05
Recipient Country USA
Required to Report Top 5
Highly Compensated Officials		 No

Projects and Jobs Information

Projects and Jobs Information
Project Title EPIGENETIC MARKS AS PERIPHERAL BIOMARKERS OF AUTISM
Project Status Completed
Final Project Report Submitted Yes
Project Activities Description Birth Defects, Genetic Disorders & Developmental Disorders Research
Quarterly Activities/Project Description THIS IS THE FINAL REPORT.
Jobs Created 0.00
Description of Jobs Created Jobs Retained: 2.167 FTE 1 x 0.167 FTE - Principal Investigator 1 x 1.000 FTE - Data Analyst 2 x 0.500 FTE - Research Specialist


Purchaser Information (Grants)

Purchaser Information
Contracting Office ID Not Reported
Contracting Office Name Not Available
Contracting Office Region Not Available
TAS Major Program 75-0907

Award Information

Award Information
Award Date 09/28/2009
Award Number 1R01MH089606-01
Order Number
Award Type Grants
Funding Agency ID 75
Funding Agency Name Department of Health and Human Services
Funding Office Name Not Available
Awarding Agency ID 75
Awarding Agency Name Department of Health and Human Services
Amount of Award $3,148,467
Funds Invoiced/Received $3,148,467
Expenditure Amount $3,148,467
Infrastructure Expenditure Amount $0
Infrastructure Purpose and Rationale Not Reported
Infrastructure Point of Contact Name Not Reported
Infrastructure Point of Contact Email Not Reported
Infrastructure Point of Contact Phone Not Reported
Infrastructure Point of Contact Address Not Reported
Infrastructure Point of Contact City Not Reported
Infrastructure Point of Contact State Not Reported
Infrastructure Point of Contact Zip Not Reported

Product or Service Information (Grants)

Product or Service Information
Primary Activity Code H02.03
Activity Description Birth Defects, Genetic Disorders & Developmental Disorders Research

Sub-Awards Information

Sub-Awards Information
Sub-awards to Organizations 0
Sub-award Amounts to Organizations $0
Sub-Awards to Individuals 0
Sub-Award Amounts to Individuals $0
Number of Sub-awards less than $25,000/award 0
Amount of Sub-awards less than $25,000/award $0
Number of payments to vendors greater than $25,000 15
Total Amount of payments to vendors greater than $25,000/award $1,702,829
Number of payments to vendors less than $25,000/award 225
Total Amount of payments to vendors less than $25,000/award $295,088




Vendor Transactions

Applied Biosystems - Award Number 1R01MH089606-01 - Applied Biosystems

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 60693-0320
Vendor Name Applied Biosystems
Product and Service Description Genome Machine Sequencer, Ion One-Touch System
Payment Amount $106,500

Beckman Coulter Inc. - Award Number 1R01MH089606-01 - Beckman Coulter Inc.

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 30326-1053
Vendor Name Beckman Coulter Inc.
Product and Service Description SPRIworks Fragment Library System & Contract
Payment Amount $49,629

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description Human Methylation 450 DNA beadchip kit
Payment Amount $29,203

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description Service Contract Renewal
Payment Amount $29,528

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description Service Contract for HIScan
Payment Amount $34,982

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description Human Methylation 450 DNA Bead Chip Kits
Payment Amount $55,814

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description cBot Cluster - Generation System Automated system for the generation of DNA clonal clusters by bridge amplification
Payment Amount $56,100

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description Human Omni Express-12 v1.0
Payment Amount $81,396

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description This kit is intendedto manually process GoldenGate-Genotyping, Gene Expression-,MiRNA-, DASL-, Methylation-,Infinium-based products usingBeadChip arrays for up to 8beadchips of one assay type JE
Payment Amount $100,350

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description GoldenGate Genotyping and Infinitum Automation Post-Amplication (Equipment) and Infinium WGG Manual to Automated Std
Payment Amount $124,735

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description SQ Module, cBot Cluster Generation System
Payment Amount $132,600

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description Human methylation 450 DNA Anal
Payment Amount $218,160

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description HumanMethylation27 v1.0DNA Analysis BeadChip (48)Each BeadChip can process 12 samples and analyze>27,000 loci. Each packagecontains 4 BeadChips, alongwith reagents for amplifying,fragmenting, hybridizing,labeling and detecting 48 DNA samples.JE
Payment Amount $237,504

ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA - Award Number 1R01MH089606-01 - ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 92121-1975
Vendor Name ILLUMINA INC, 9885 Towne Centre Drive, San Antonio, CA
Product and Service Description BEADXPRESS SYSTEM(220V), iScan System, AutoLoader2-Single (110V/220V)JE
Payment Amount $390,586

Penguin Computing Inc. - Award Number 1R01MH089606-01 - Penguin Computing Inc.

Award Number 1R01MH089606-01
Sub-Award Number N/A
Vendor DUNS Number Not reported
Vendor HQ Zip Code + 4 94538-6413
Vendor Name Penguin Computing Inc.
Product and Service Description IceBreaker Server & Master Node
Payment Amount $55,742



Project Location Detail

Location Information
Latitude, Longitude 33º 47' 41", -84º 19' 36"
Congressional District 05
Address 1 1599 Clifton Road, NE, 4th Floor
Address 2 Mailstop 1599/001/1BH
City Atlanta
County DeKalb
State GA
Zip 30322-4250
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