to investigate the factors that contribute to opioid use disorder (also known as opioid dependence or addiction) and overdose, and how genetic and non-genetic information can be used in the prevention or treatment of this disease.As a leader in the field of personalized medicine, Coriell has a decade of experience in
Cancers Scientists in the CCRC are studying the behavior and health conditions that can cause increased risk for these cancers, such as the consumption of alcohol or Barretts esophagus, a condition found commonly in people diagnosed with gastroesophageal reflux disease (GERD). 06 Aging Cancer is a disease of aging. Cancer
to investigate the factors that contribute to opioid use disorder (also known as opioid dependence or addiction) and overdose, and how genetic and non-genetic information can be used in the prevention or treatment of this disease.As a leader in the field of personalized medicine, Coriell has a decade of experience in
metastatic disease represents a major therapeutic advance, but long-term survival remains limited in advanced disease and novel therapeutic approaches are essential. Low- dose DNA methyltransferase inhibitor (DNMTi) reprograms DNA double-strand break repair (DSBR), producing synergistic in vitro cytotoxicity with poly(ADP
recalcitrant form of lung cancer with a proclivity for early metastatic spread and relapse after initial treatment. Unfortunately, most patients who are diagnosed with ES-SCLC succumb to their disease within 12-15 months. Response to treatment with chemo-immunotherapy is minimal and is short-lived. Limitations to study ES-SCLC
known cause whereas secondary dystonias (non-primary dystonia) can exist as a symptom of another neurological disorder, such as Parkinsons disease, and for which there is an identifiable acquired or exogenous cause.The NINDS Repository distributes DNA and lymphoblastoid cell lines (LCLs) obtained from individuals
walking, swallowing and breathing. These diseases are degenerative and the extent of symptoms associated with MND varies, as does age of onset, prognosis, and the risk of fatality.The NINDS Repository MND collection includes biomaterials from subjects with Amyotrophic Lateral Sclerosis (ALS, or Lou Gehrigs Disease
The signs characteristic of Parkinson's disease (PD) are termed parkinsonism. Not all patients with parkinsonism have Parkinson's disease, though most do. Parkinsonian clinical signs disorders also include Progressive Supranuclear Palsy (PSP), Multiple system Atrophy (MSA), Corticobasal degeneration (CBD
banking Tourette Syndrome subjects. The Repository will also include in the collection unaffected (At Risk") and affected blood relatives of subjects, spouses (spousal controls), and normal healthy individuals (including population and convenience controls).Disease Sub-Collection at a Glance Search the CollectionSamples by
Wills AM, Brown RH, Jr., Landers JE: Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiol Aging 2011, 32(11):2096-2099. PMC2889148van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP et al: Angiogenin variants in Parkinson disease and
Presentations.Principal Investigators Kathleen C. Barnes - Department of Medicine, Johns Hopkins University, Baltimore, MD Rasika A. Mathias - Department of Medicine, Johns Hopkins University, Baltimore, MDCaribbean Team Anselm Hennis - Chronic Disease Research Centre, Tropical Medicine Research Institute, Cave Hill Campus, The University
2024Liu et al. 2024 in Cell Death and Disease Title: Screens in aging-relevant human ALS-motor neurons identify MAP4Ks as therapeutic targets for the disease Samples Used: AG05811, AG08517, AG09969, AG11733, AG12989Rozo-Lopez et al. 2024 in Insects Title: Culicoides-Specific Fitness Increase of Vesicular Stomatitis
Jean-Pierre Issa, MDPresident and Chief Executive OfficerJean-Pierre Issa, MD, is President and Chief Executive Officer of the Coriell Institute for Medical Research. As such, Dr. Issa leads all aspects of the Coriell Institute in its mission to better understand human health and disease as well as serve as a trusted
year clinical and research fellowship in infectious diseases at the Medical University of South Carolina in Charleston, South Carolina. Prior to becoming Founding Vice Dean, she served as Interim Dean of CMSRU and was also the Head of the Division of Infectious Diseases and the Deputy Chief for Administration of the
scientists dedicated to improving human health. Our founder, Dr. Lewis Coriell, played a pivotal role in developing the polio vaccine and made several other significant scientific advancements that continue to shape modern medicine.We honor Dr. Coriell's legacy through our mission of Preventing and Curing Disease.Our MissionIn
Impact the Future of Medicine with CoriellAt Coriell, we stand at the intersection of heritage and hope. With a rich history of pioneering research, we're opening doors to new possibilities in combating diseases that touch each of us. Through projects like the Camden Opioid Research Initiative, the Camden Cancer
investigation into the underlying genetic and non-genetic factors that contribute to opioid use disorder. With our partners on this project Cooper University Health Care and Cooper Medical School of Rowan University were taking a personalized medicine approach to the disease in hopes we can better understand the factors which
investigation into the underlying genetic and non-genetic factors that contribute to opioid use disorder. With our partners on this project Cooper University Health Care and Cooper Medical School of Rowan University were taking a personalized medicine approach to the disease in hopes we can better understand the factors which
information can be used in the prevention or treatment of this disease. I contribute to this project as an application developer, data analyst, and bioinformatics researcher.Prior to and concurrently with CORI, I mine data collected through the Coriell Personalized Medicine Collaborative (CPMC), a research study that explored
ExpansionsBMC Research Notes, August 2018 Laura B. Scheinfeldt, Kelly Hodges, Jonathan Pevsner, Dorit Berlin, Nahid Turan and Norman P. GerryOutcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports *Journal of Genetic Counseling, March 2017Sweet K
are distinguished by many epigenomes modifying the same DNA sequence. Errors in epigenetic mechanisms play important roles in development of diseases.Our President and CEO, Jean-Pierre Issa, MD, has made epigenetics the focus of his lifes work, specifically how changes in our epigenomes affect the way we age, our risks
Material by using the following statement: This research was made possible through the Orphan Disease Center Collection supported by the Loulou Foundation, available from Coriell Institute for Medical Research. In addition, Recipient Scientist will notify Provider of such publication by sending an email to Dan Lavery, PhD
The National Institute of Neurological Disorders and Stroke is committed to gene discovery, as a strategy for identifying the genetic causes and correlates of nervous system disorders. The NINDS Human Genetics Resource Center banks samples donated by individuals with cerebrovascular disease, dystonia, epilepsy, motor
The National Institute of Neurological Disorders and Stroke is committed to gene discovery, as a strategy for identifying the genetic causes and correlates of nervous system disorders. The NINDS Human Genetics Resource Center banks samples donated by individuals with cerebrovascular disease, dystonia, epilepsy, motor
SponsorNational Institute for Neurological Disorders and Stroke, NIHThe Vitamin Intervention for Stroke Prevention (VISP) Clinical Trial Collection is a valuable and finite set of DNA samples for investigating cerebrovascular disease.This special collection of the NINDS Human Genetics Resource Center DNA and Cell
More than 2000 cerebrovascular disease and population control DNA samples from the REasons for Geographic and Racial Differences in Stroke (REGARDS) project (http://www.regardsstudy.org/) are available through the NINDS Human Genetics Resource Center catalog to the scientific community. Since 2003, REGARDS, a NINDS
associated with focal epilepsy in children. Neurobiology of Disease. 2014 62:313-22. PMID: 24157691. Epi4K Consortium and Epilepsy Phenome/Genome Project, et al. De novo mutations in epileptic encephalopathies. Nature. 2013 501(7466):217-21. PMID: 23934111. Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A
NINDS Repository diseases cerebrovascular-disease
Clinical and genetic information from control subjects serves as a standard to compare corresponding data from disease subjects. Genetic differences between control groups and disease groups help researchers discover causes for a particular disease. Both Population Controls and unaffected relatives of affected
Epilepsy constitutes a group of disorders that cause seizures. These seizures reflect abnormally high levels of electrical activity in the brain. Known causes of epilepsy include genetic mutations, head trauma, brain tumor, encephalitis, infectious disease, stroke, and abnormal neural development. There are different
TypeCDE Forms (PDF) CDE Data Dictionaries (Excel)Cerebral Cavernous Malformation Cerebrovascular DiseaseDystonia Epilepsy Hereditary Hemorrhagic TelangiectasiaMotor Neuron Disorder Parkinsonism Population/Convenience ControlsTourette Syndrome
lines from individuals with epilepsy, Parkinsons disease, stroke, ALS, Tourette Syndrome, dystonia, frontotemporal degeneration, as well as from neurologically normal controls are publicly available from the NINDS Repository. Control samples include both population controls and spousal controls.This mission of the NINDS
receives, stores, and standardizes the collection of clinical data and DNA for genetics research in neurological diseases.2. What disease categories are being collected?The NINDS Repository banks samples from subjects with Cerebrovascular Disease, Dystonia, Epilepsy, Motor Neuron Disease, Parkinsonism and Tourette Syndrome
primarily fibroblasts and transformed lymphoblasts, and more than 6,200 DNA samples. Currently, the NIGMS HGCR catalog also contains over 180 iPSC lines.Repository samples represent a variety of disease states, chromosomal abnormalities, apparently healthy individuals, and many distinct human populations. These samples
Two Tiers of Data AccessThe NIGMS Human Genetic Cell Repository has distributed samples from Dr. Janice Egelands studies on bipolar disease in the Old Order Amish since 1982. Samples from approximately 250 subjects have been available with clinical data since the late 1980s. In the last few years Dr. Egeland has
The NIGMS Repository hosts a large collection of cell lines and DNA samples from Apparently Healthy individuals. This refers to samples collected from individuals that have not been diagnosed with a genetic disease at the time of sample collection. This does not necessarily mean that the samples do not contain any
copy number variants (CNVs) on that chromosome. Users can modify the display and search terms directly within the UCSC Genome Browser, and select the desired display mode for Coriell CNVs" under "Phenotype and Disease Associations".Click the chromosomes below to see samples from individuals with aberrations on the
(pedigree available) Huntington Disease - Family 690 Huntington Disease - Family 691 Huntington Disease - Family 692Sibship ASibship BManic Depressive Psychosis - Family 811 (pedigree available) Manic Depressive Psychosis - Family 823 (pedigree available) (pedigree available) Marfan Syndrome - Family 1216 (pedigree available
use to find genes that affect health, disease, and response to drugs and environmental factors. All HapMap data are freely available to the public through the database dbSNP. A graphical browser for HapMap genotypes is also available at http://www.hapmap.org/cgi-perl/gbrowse/gbrowse. Further information can be found at
The Heritable Diseases subcollection comprises cell lines and DNA samples from individuals diagnosed with a heritable genetic disease as well as from their family members who may be apparently healthy. See all available samples from this subcollection here. Explore this collection and browse samples by:--Disease
diseases. These hiPSCs were created using a variety of reprogramming techniques* and are suitable for use in cell differentiation, disease models, drug discovery, genotyping, and as experimental controls. Additionally, gene-edited lines have been generated using CRISPR Cas9 gene-editing technology* from apparently healthy and
Culture FAQ here.View catalog-available fibroblasts from the NIGMS Repository. Induced Pluripotent Stem Cells (iPSCs)Created using various reprogramming techniques, and carefully monitored to adhere to rigorous quality control standards. iPSC lines are available for apparently healthy and disease specific parental lines
characterized mutations in the associated gene.DiseaseView list of OMIM diseases and corresponding NIGMS samples from individuals diagnosed with the associated disease.Dysmorphology View list of dysmorphologies and corresponding NIGMS samples with associated aberrations.Enzyme View list of enzymes and corresponding NIGMS samples
NIGMS Repository customers who are willing to identify disease-causing mutation(s) for currently uncharacterized NIGMS Repository samples will receive a credit for one free sample on their next purchase in exchange for each cell line or DNA sample for which they provide mutation data. Submitters may choose as their
The NIGMS Human Genetic Cell Repository is collaborating with the Centers for Disease Control and Prevention's (CDC) Genetic Testing Reference Material Coordination Program (GeT-RM) to distribute reference materials to the genetics community. These reference materials contain mutations of clinical importance that
sequencing. A list of the sequencing-verified samples is available here.Visit the SNP Search page for additional information on all SNPs of interest, indexed by dbSNP rsID.Genetic Testing Reference Material (GeT-RM)The ongoing collaboration between the NIGMS Human Genetic Cell Repository and the Centers for Disease Control and
over 180 iPSC lines. The NIGMS Repository has a major emphasis on heritable diseases and chromosomally aberrant cell lines. In addition, it contains a large collection dedicated to understanding human variation that includes samples from populations around the world, the CEPH collection, the Polymorphism Discovery
Fibroblast Cell CulturesFAQ about Human Subjects ResearchOther InformationThe NIGMS Human Genetic Cell Repository at the Coriell InstituteHelp Build a Research Resource for Chromosome 15q duplicationsThe Congenital Muscle Disease Biobank-Myotubular and Centronuclear MyopathyThe Congenital Muscle Disease Biobank-Nemaline
Help build a research resource for scientists studying inherited genetic diseases and chromosomal abnormalities: Donate a blood or tissue sample to the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research One of the key barriers to finding treatments or cures for rare, genetic diseases is
Our mission is to prevent and cure disease through biomedical research.
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