National Disease Research Interchange - Advancing Autism Spectrum Disorder … · 2019. 6. 19. ·...
1
Advancing Autism Spectrum Disorder (ASD) Research via a Multiple-Site Donation Initiative Casie Heinemann, Saboor Shad, Cristina Kelly, Jason Cavanaugh, Melissa VonDran, PhD, Gene Kopen, PhD, Bill Leinweber, and Thomas J. Bell, MS, PhD National Disease Research Interchange (NDRI), Philadelphia, PA Brain Is Our Leading Neurological Biospecimen Placement NDRI’s Partnering TSS Serve as the Link Between Donors and the Advancement of ASD Research: NDRI partners with 14 tissue source sites (TSS) that screen all brain donation opportunities using the ASD Project DSW, work with next-of-kin to obtain authorization for donation specifically for the ASD Project, and recover tissues from eligible donors. NDRI coordinates shipment to the NIH NeuroBioBank (NBB) where tissue is stored and distributed to approved investigators studying the pathophysiology of ASD. National Disease Research Interchange www.ndriresource.org Key Objectives: 1. Discuss screening tools to identify, authorize, and recover biospecimens from ASD and normal control donors 2. Report on the need for greater access to human neurological biospecimens Summary: Project Performance Funded by the National Institute of Mental Health (NIMH) through a supplement to HTORR Brain and temporal muscle recovered from ASD and normal pediatric control donors at 14 TSS Currently in Program Year 4 Supplemental HTORR Funding Will Support a Resource for Alzheimer’s Disease and Related Dementias (AD/ADRD) Research: The National Institute of Aging (NIA) at NIH awarded NDRI a supplement to its HTORR program to create a new human biospecimen resource, the ADBR, to support AD/ADRD research. NDRI leads an advisory council made up of NIH, academic, and industry leaders in the field whose goal is to identify the areas of greatest need within AD/ADRD research. • Supported by NIH Grant 3U42OD011158-28S2&3 to NDRI • Partnering TSS (Center for Organ Recovery and Education, Dakota Lions Sight and Health, Donor Network West, Gift of Life Donor Program, LifeGift, LifeLink Foundation, LifeNet Health, Mid-America Transplant, Unyts, Washington Regional Transplant Center) • NDRI would also like to thank the donors and their families for providing valuable donations to advance ASD research. Advancing ASD Research: Studying human biospecimens is essential to advance our understanding of pathogenesis and treatment of neurological disease, including Autism Spectrum Disorders (ASD). The lack of suitable human biospecimens to conduct ASD research and develop new Background NDRI’s Brain Donor Screening Worksheet (DSW) Enables Identification of Critical Donation Opportunities: NDRI developed a donor screening worksheet (DSW) utilized by all partnering OPOs to clearly rule potential brain donors in or out for the ASD project. OPO staff use the DSW for each potential brain donor. If a donor is eligible, OPOs approach NOK for authorization. Eligibility criteria are shown in the table above. treatment options is a significant impediment for the field. More effective approaches and reliable sources of human biospecimens are needed to address this gap for the ASD research community. Here we report our efforts to address this gap and advance ASD research through supporting the development of a human tissue bank that provides high- quality human biospecimens to the ASD research community NDRI Contributes to Neurological Disease Research Through Human Tissue and Organ for Research Resource (HTORR) The impact of the resource is evident by high-impact investigator publications, including: Acknowledgements Brain, 848, 42% CSF, 188, 9% Peripheral Ganglia, 641, 31% Peripheral Nerves, 134, 7% Spinal Cord, 232, 11% NDRI provides a range of neurological tissues to investigators worldwide: The pie chart indicates the types of neurological tissue placed by NDRI in the last 5 years from TSS partners. Brain continues to be the most requested tissue type. Tissues placed include those from normal as well as diseased donors (including Alzhiemer’s disease, ALS, depression, PTSD, and spinal cord injury). ASD Donors Normal Control Donors 30 5 Identifying ASD and Normal Pediatric Control Donors Requires Enhanced Donor Screening ASD Donors Normal Controls Age > 2 Age 2-18 ASD diagnosis (Autism, Asperger’s, or Pervasive Dvpt Disorder) No neurological disorders No chemo/radiation in past 24 months No chemo/radiation in past 24 months No sepsis at time of death No sepsis at time of death Ventilator < 24 hours Ventilator < 24 hours Collection must occur within 24 hours of cardiac cessation Collection must occur within 24 hours of cardiac cessation NDRI and TSS Partners Are Essential For the Success of the ASD Program Donor Screening by TSS with DSW NDRI Receives Donor Offer and Confirms Eligibility TSS Recover Brain and Temporal Muscle NDRI Arranges Shipment To NIH NBB NBB Stores and Ships Tissue To Investigators TSS Obtains Authorization for Donation Yes Yes Yes The NIH NeuroBioBank Facilitates Cutting-edge ASD Research by Providing Access To Valuable Donated Specimens Identify the donor criteria and biospecimens of greatest need with an ADBR Advisory Council Collaborate with TSS to develop methods for screening, authorizing, and recovering biospecimens from eligible AD/ADRD donors Velmeshev D, et al. Single-cell genomics identifies cell type-specific molecular changes in autism. Science. 2019 May 17;364(6441):685-689. Avino TA, et al. Neuron numbers increase in the human amygdala from birth to adulthood, but not in autism. PNAS 2018 Apr 3: 115 (14): 3710- 3715. Wang Z, et al. Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice. Molecular Psychiatry 2019 Alzheimer’s Disease Biospecimen Resource (ADBR) 1. ASD investigators require greater access to human brains to expand our understanding of pathophysiology of ASD and develop new treatments 2. The NIH’s NeuroBioBank partnership with NDRI expands their reach to screen and recover ASD donation opportunities to support a diverse range of studies 3. NDRI is building upon their established ASD donation model to support other neurological biospecimen needs for the research community NDRI’s HTORR program has been funded by the NIH for > 30 years Through HTORR, NDRI supports a range of neurological research Autism Spectrum Disorder (ASD) Research Requires Human Tissue Donation Meeting Unmet Needs of the AD/ADRD Research Community
Transcript of National Disease Research Interchange - Advancing Autism Spectrum Disorder … · 2019. 6. 19. ·...
Advancing Autism Spectrum Disorder (ASD) Research via a Multiple-Site Donation InitiativeCasie Heinemann, Saboor Shad, Cristina Kelly, Jason Cavanaugh, Melissa VonDran, PhD,
Gene Kopen, PhD, Bill Leinweber, and Thomas J. Bell, MS, PhDNational Disease Research Interchange (NDRI), Philadelphia, PA
Brain Is Our Leading Neurological Biospecimen Placement
NDRI’s Partnering TSS Serve as the Link Between Donors and theAdvancement of ASD Research: NDRI partners with 14 tissue source sites(TSS) that screen all brain donation opportunities using the ASD Project DSW,work with next-of-kin to obtain authorization for donation specifically for theASD Project, and recover tissues from eligible donors. NDRI coordinatesshipment to the NIH NeuroBioBank (NBB) where tissue is stored anddistributed to approved investigators studying the pathophysiology of ASD.
National Disease Research Interchangewww.ndriresource.org
Key Objectives:1. Discuss screening tools to identify, authorize, and recover
biospecimens from ASD and normal control donors2. Report on the need for greater access to human neurological
biospecimens
Summary:
Project Performance Funded by the National Institute of Mental Health (NIMH) through a supplement to HTORR
Brain and temporal muscle recovered from ASD and normal pediatric control donors at 14 TSS
Currently in Program Year 4
Supplemental HTORR Funding Will Support a Resource for Alzheimer’sDisease and Related Dementias (AD/ADRD) Research: The NationalInstitute of Aging (NIA) at NIH awarded NDRI a supplement to its HTORRprogram to create a new human biospecimen resource, the ADBR, to supportAD/ADRD research. NDRI leads an advisory council made up of NIH,academic, and industry leaders in the field whose goal is to identify the areasof greatest need within AD/ADRD research.
• Supported by NIH Grant 3U42OD011158-28S2&3 to NDRI• Partnering TSS (Center for Organ Recovery and Education, Dakota Lions Sight
and Health, Donor Network West, Gift of Life Donor Program, LifeGift, LifeLinkFoundation, LifeNet Health, Mid-America Transplant, Unyts, WashingtonRegional Transplant Center)
• NDRI would also like to thank the donors and their families for providing valuabledonations to advance ASD research.
Advancing ASD Research: Studyinghuman biospecimens is essential toadvance our understanding ofpathogenesis and treatment ofneurological disease, including AutismSpectrum Disorders (ASD). The lack ofsuitable human biospecimens toconduct ASD research and develop new
Background
NDRI’s Brain Donor Screening Worksheet (DSW) Enables Identificationof Critical Donation Opportunities: NDRI developed a donor screeningworksheet (DSW) utilized by all partnering OPOs to clearly rule potential braindonors in or out for the ASD project. OPO staff use the DSW for eachpotential brain donor. If a donor is eligible, OPOs approach NOK forauthorization. Eligibility criteria are shown in the table above.
treatment options is a significant impediment for the field. More effectiveapproaches and reliable sources of human biospecimens are needed toaddress this gap for the ASD research community. Here we report ourefforts to address this gap and advance ASD research throughsupporting the development of a human tissue bank that provides high-quality human biospecimens to the ASD research community
NDRI Contributes to Neurological Disease Research Through Human Tissue and Organ for Research Resource (HTORR)
The impact of the resource is evident by high-impact investigator publications, including:
Acknowledgements
Brain, 848, 42%
CSF, 188, 9%
Peripheral Ganglia, 641, 31%
Peripheral Nerves, 134, 7%
Spinal Cord, 232, 11%
NDRI provides a range of neurological tissues to investigatorsworldwide: The pie chart indicates the types of neurological tissue placedby NDRI in the last 5 years from TSS partners. Brain continues to be themost requested tissue type. Tissues placed include those from normal aswell as diseased donors (including Alzhiemer’s disease, ALS, depression,PTSD, and spinal cord injury).
ASD Donors Normal Control Donors
30 5
Identifying ASD and Normal Pediatric Control Donors Requires Enhanced Donor Screening
ASD Donors Normal ControlsAge > 2 Age 2-18
ASD diagnosis (Autism, Asperger’s, or Pervasive Dvpt Disorder)
No neurological disorders
No chemo/radiation in past 24 months No chemo/radiation in past 24 months
No sepsis at time of death No sepsis at time of deathVentilator < 24 hours Ventilator < 24 hours
Collection must occur within 24 hours of cardiac cessation
Collection must occur within 24 hours of cardiac cessation
NDRI and TSS Partners Are Essential For the Success of the ASD Program
Donor Screening by TSS with DSW
NDRI Receives Donor Offer and Confirms
Eligibility
TSS Recover Brain and Temporal
Muscle
NDRI Arranges Shipment
To NIH NBB
NBB Stores and Ships Tissue
To Investigators
TSS Obtains Authorization for
Donation
Yes
Yes Yes
The NIH NeuroBioBank Facilitates Cutting-edge ASD Research by Providing Access To Valuable Donated Specimens
Identify the donor criteria and biospecimens of greatest need with an ADBR Advisory Council
Collaborate with TSS to develop methods for screening, authorizing, and recovering biospecimens from eligible AD/ADRD donors
Velmeshev D, et al. Single-cell genomics identifies cell type-specific molecular changes in autism. Science. 2019 May 17;364(6441):685-689.
Avino TA, et al. Neuron numbers increase in the human amygdala from birth to adulthood, but not in autism. PNAS 2018 Apr 3: 115 (14): 3710-3715.
Wang Z, et al. Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice. Molecular Psychiatry 2019
Alzheimer’s Disease Biospecimen Resource (ADBR)
1. ASD investigators require greater access to human brains to expand ourunderstanding of pathophysiology of ASD and develop new treatments
2. The NIH’s NeuroBioBank partnership with NDRI expands their reach toscreen and recover ASD donation opportunities to support a diverserange of studies
3. NDRI is building upon their established ASD donation model to supportother neurological biospecimen needs for the research community
NDRI’s HTORR program has been funded by the NIH for > 30 years
Through HTORR, NDRI supports a range of neurological research
Autism Spectrum Disorder (ASD) Research Requires Human Tissue Donation
Meeting Unmet Needs of the AD/ADRD Research Community
