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Search Results for - MISMATCH REPAIR CANCER SYNDROME

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Camden Cancer Research Center - Brightest Minds. Defeating Cancer.

https://www.coriell.org/1/research/camden-cancer-research-institute

research camden-cancer-research-institute

Camden Cancer Research Center - Brightest Minds. Defeating Cancer.

https://www.coriell.org/ccrcnj/

Brightest Minds. Defeating Cancer. Learn How We Help Working Together to Defeat Cancer The Camden Cancer Research Center (CCRC) is a brand-new effort with a simple approach: Connect scientists and empower collaborative research to develop the next generation of cancer treatments and grow a critical mass of

Epigenetic Therapies SPORE

https://www.coriell.org/1/research/epigenetic-therapies-spore/epigenetic-therapies-spore

The Epigenetic Therapies SPORE (or Specialized Program of Research Excellence) seeks to improve on current epigenetic therapies by exploring new targets, new ways of combining epigenetic therapy with other cancer therapies, and by designing and running clinical trials of these new strategies.Epigenetic therapy aims to

Career Enhancement Program

https://www.coriell.org/1/research/epigenetic-therapies-spore/career-enhancement-program

Career Enhancement ProgramJean-Pierre Issa, MDPeter Jones, PhDThe goal of the Career Enhancement Program (CEP) is to provide training and guidance for academic physician scientists, clinician-investigators, and laboratory-based scientists who wish to dedicate their career and research efforts to translational cancer

Developmental Research Program

https://www.coriell.org/1/research/epigenetic-therapies-spore/developmental-research-program

between the SPORE leaders and program awardees to enhance the quality of the translational research goals.Year 3 AWARDEESJozef Madzo, PhDCoriell Institute for Medical ResearchPan-cancer analysis of epigenetically driven repetitive element deregulationAround half of the human genome consists of various repetitive sequences

Recent Publications

https://www.coriell.org/1/nia/recent-publications

and mitochondrial calcium homeostasis mediated by VDAC in fragile X syndrome Samples Used: AG01552Sarmini et al. 2023 in Nucleic Acids Research Title: Requirement of transcription-coupled nucleotide excision repair for the removal of a specific type of oxidatively induced DNA damage Samples Used: AG10076Cervetto et al

Coriell Publications | View The Latest Research | Coriell

https://www.coriell.org/1/research/publications

15592294.2022.2160568. Epub ahead of print. PMID: 36572998.Sun A, Park P, Cole L, Vaidya H, Maegawa S, Keith K, Calendo G, Madzo J, Jelinek J, Jobin C, Issa JJ.Safety, Outcomes, and T-Cell Characteristics in Patients with Relapsed or Refractory MDS or CMML Treated with Atezolizumab in Combination with GuadecitabineClinical Cancer Research

NINDS Repository Publications

https://www.coriell.org/1/ninds/publications

Moreno S, Cerri S et al: Inefficient DNA Repair Is an Aging-Related Modifier of Parkinson's Disease. Cell Rep 2016, 15(9):1866-1875. PMC4893155Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA et al: MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med

Shumei Song, MD, PhD

https://www.coriell.org/1/research/our-scientists/our-faculty/shumei-song-md-phd

ProfessorI am a Professor in Coriell Institute for Medical Research in Camden, New Jersey. I received my PhD in Molecular Biology and Biochemistry from Beijing Cancer Institute, Beijing University, China where my graduate work focus on the cloning and elucidating the functional role of the VEGF receptor KDR on tumor

Epigenomics at the Coriell Institute for Medical Research

https://www.coriell.org/1/research/epigenomics

for developing cancer, and how epigenetics can be utilized to improve treatments for cancer.At Coriell, were continuing that drive. Our scientists are administering several research grants focused on better understanding how epigenetics can be used to predict, prevent, and treat certain cancers.Coriell researchers are

Tourette Syndrome | Genetic Samples | Coriell Institute

https://www.coriell.org/1/ninds/diseases/tourette-syndrome

Tourette SyndromeTourette Syndrome is a neurological disorder characterized by tics. Tics are repetitive, involuntary movements and vocalizations. The types and severity of tics are variable and can include eye blinking, shoulder shrugging, throat clearing , yelping, and hitting oneself. Symptoms are first noticed in

The Team

https://www.coriell.org/1/research/the-shumei-song-lab/the-team

Shumei Song, MD, PhDProfessorI am a Professor in Coriell Institute for Medical Research in Camden, New Jersey. I received my PhD in Molecular Biology and Biochemistry from Beijing Cancer Institute, Beijing University, China where my graduate work focus on the cloning and elucidating the functional role of the VEGF

The Team

https://www.coriell.org/1/research/the-nora-engel-lab/the-team

Nora Engel, PhDProfessorDr. Nora Engel is Associate Professor at the Coriell Institute for Medical Research, which is a partner in the Camden Cancer Research Center in Camden, NJ. Nora received her Ph.D. in Molecular Genetics from the University of Buenos Aires School of Biochemistry. Her graduate work focused on

Our Faculty | Jean-Pierre Issa | Coriell Institute

https://www.coriell.org/1/about-us/meet-our-team/jean-pierre-issa-md

Issa has also studied the epigenetics of cancer cells and he has published many studies showing how the information could be used to better understand clinical outcomes after cancer therapies. Finally, Dr. Issa has also been involved in epigenetic based drug discovery and his recently published research in Cell described

The Team

https://www.coriell.org/1/research/the-issa-jelinek-lab/the-team

Our team is working to further uncover the role of epigenetics, specifically through DNA methylation and histone modification, in two particularly relevant areas for human health: cancer and aging.Our work is funded by grants from many sources, from the National Institutes of Health to private foundations. We are the

Nora Engel, PhD

https://www.coriell.org/1/research/our-scientists/our-faculty/nora-engel-phd

Associate Professor I am an Associate Professor in the Coriell Institute for Medical Research in Camden, New Jersey. I received my PhD in Molecular Genetics from the University of Buenos Aires School of Biochemistry where my graduate work focused on transcriptional regulation in cancer. I then pursued a postdoctoral

The Coriell Institute for Medical Research | Our Research

https://www.coriell.org/1/research

conduct R&D in our research labs located in Camden, New Jersey. Heres some of what were working on.Camden Cancer Research CenterWe have teamed up with Cooper University Health Care and Cooper Medical School of Rowan University, two of our neighbors in Camden, New Jersey, to form the Camden Cancer Research Center

The Coriell Institute for Medical Research | Our Research

https://www.coriell.org/1/research/overview

conduct R&D in our research labs located in Camden, New Jersey. Heres some of what were working on.Camden Cancer Research CenterWe have teamed up with Cooper University Health Care and Cooper Medical School of Rowan University, two of our neighbors in Camden, New Jersey, to form the Camden Cancer Research Center

The Issa and Jelinek Lab

https://www.coriell.org/1/research/the-issa-jelinek-lab/the-issa-jelinek-lab

The Issa & Jelinek Lab investigates the many ways in which the epigenome plays a role in our health, from cancer development to the aging process. In studying epigenetics that is, studying how portions of our genome are activated and deactivated the lab seeks to better understand how human health is impacted

Join the Team

https://www.coriell.org/1/research/the-shumei-song-lab/join-the-team

The Song Lab is actively looking for postdoc and talented scientists who share a passion for cancer biology research, especially related to gastrointestinal cancers. Drop us a line if you're a good fit. Postdoctoral ResearcherThe laboratory of Dr. Shumei Song at the Coriell Institute for Medical Research in Camden

Overview

https://www.coriell.org/1/donate/overview

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

Giving Tuesday

https://www.coriell.org/1/donate/giving-tuesday

of overdose deaths and found that the presence of the powerful synthetic opioid fentanyl was nearly universal.Read more...Coriell, Cooper University Health Care, and Cooper Medical School of Rowan University launched the Camden Cancer Research Center (CCRC), a partnership to investigate cancer and develop life-saving

Publications

https://www.coriell.org/1/research/the-issa-jelinek-lab/publications

10.1261/rna.079396.122. Epub ahead of print. PMID: 37105714.ABL1 kinase as a tumor suppressor in AML1-ETO and NUP98-PMX1 leukemiasGolovine K, Abalakov G, Lian Z, Chatla S, Karami A, Chitrala KN, Madzo J, Nieborowska-Skorska M, Huang J, Skorski T.Blood Cancer J. 2023 Mar 23;13(1):42. doi:10.1038/s41408-023-00810-0. PMID

Jean-Pierre Issa, MD

https://www.coriell.org/1/research/our-scientists/our-faculty/jean-pierre-issa-md

My laboratory and clinical/translational interests are in the area of epigenetics, with particular emphasis on the role of DNA methylation and histone modifications in aging, cancer development and as a target for prevention and therapy for cancer. Some of the findings from my laboratory include the first description

Repair Defective and Chromosome Instability Syndromes

https://www.coriell.org/1/nigms/linkouts/repair-defective-and-chromosome-instability-syndromes

NIGMS Human Genetic Cell Repository linkouts repair-defective-and-chromosome-instability-syndromes

Heritable Cancer Syndromes and other Cancers

https://www.coriell.org/1/nigms/linkouts/heritable-cancer-syndromes-and-other-cancers

NIGMS Human Genetic Cell Repository linkouts heritable-cancer-syndromes-and-other-cancers

Premature Aging Disorders | Browse the Repository | Coriell

https://www.coriell.org/1/nia/collections/premature-aging-disorders

Premature Aging DisordersPremature aging disorders, also known as progeroid syndromes, are a group of rare genetic conditions characterized by accelerated aging, leading to early-onset aging-related symptoms and shortened lifespan. These disorders often result from mutations affecting DNA repair, cellular maintenance

Publications

https://www.coriell.org/1/research/the-shumei-song-lab/publications

Properties. Cancer Res. 2014 Aug 1; 74(15):4170-82. *Corresponding authorLi Y, Liu Z, Liu H, Wang LE, Onodera H, Suzuki A, Suzuki K, Wadhwa R, Elimova E, Sudo K, Shiozaki H, Estrella J, Lee JS, Song S, Tan D, Ajani JA, Wei Q. Potentially functional variants in the core nucleotide excision repair genes predict survival in

Publications

https://www.coriell.org/1/research/the-jian-huang-lab/publications

10.1172/JCI175619. PubMed PMID: 38713535; PubMed Central PMCID: PMC11178535.Development of a novel humanized anti-TSLP monoclonal antibody HZ-1127 with anti-allergic diseases and cancer potential Liu X, Han J, Wang Q, Wang P, Li L, Du K, Jiang F, Zhang P, Liu H, Huang J. Antib Ther. 2024 Apr;7(2):123-130. doi: 10.1093/abt

Available Samples by Biological Function

https://www.coriell.org/1/nigms/additional-resources/available-samples-by-biological-function

Diseases PathwayNucleotide Excision Repair PathwayPurine Metabolism Pathway

Generosa Grana, M.D. F.A.C.P.

https://www.coriell.org/1/about-us/meet-our-board/generosa-grana-md-facp

Dr. Generosa Grana is the Director of the MD Anderson Cancer Center at Cooper. She is Professor of Medicine at Cooper Medical School of Rowan University and serves as an Adjunct Professor of Cancer Medicine at The University of Texas MD Anderson Cancer Center.After receiving a Bachelor of Science degree from the

Jaroslav Jelinek, MD, PhD

https://www.coriell.org/1/research/our-scientists/our-faculty/jaroslav-jelinek-md-phd

Professor Chief Scientific Officer I received my training in experimental hematology at the Institute of Hematology and Blood Transfusion in Prague, Czech Republic, and the Paterson Institute for Cancer Research in Manchester, UK. Currently, I serve as the Chief Scientific Officer at the Coriell Institute for Medical

Woonbok Chung, PhD

https://www.coriell.org/1/research/our-scientists/our-faculty/woonbok-chung-phd

Assistant ProfessorResearch Scientist I have a broad background in microbiology and cancer development and am interested in developing epigenetic biomarkers for diagnosis and prognosis of disease including cancer and aging by a non-invasive method, characterizing candidate genes which are inactivated by genetic or

NINDS

https://www.coriell.org/1/ninds

neuron disease, Parkinsonism and Tourette Syndrome, as well as population controls. Available samples New Cerebrovascular Disease Samples Available!More than 1000 DNA samples from the REasons for Geographic and Racial Differences in Stroke (REGARDS) project have been added to the NINDS Human Genetics Resource Center and are

NINDS

https://www.coriell.org/1/ninds/collections

neuron disease, Parkinsonism and Tourette Syndrome, as well as population controls. Available samples New Cerebrovascular Disease Samples Available!More than 1000 DNA samples from the REasons for Geographic and Racial Differences in Stroke (REGARDS) project have been added to the NINDS Human Genetics Resource Center and are

Controls

https://www.coriell.org/1/ninds/diseases/controls

ParkinsonismUnaffected Primary Blood Relatives of Individuals with Tourette SyndromeOrderingAcknowledgement Guidelines Submission InformationClinical Data Elements (CDEs) for Controls and Clinical Data Elements (CDEs) for Controls Data DictionaryFederal Policy for the Protection of Human Subjects (External Link)For questions please contact

Clinical Data Forms

https://www.coriell.org/1/ninds/downloads2/clinical-data-forms

TypeCDE Forms (PDF) CDE Data Dictionaries (Excel)Cerebral Cavernous Malformation Cerebrovascular DiseaseDystonia Epilepsy Hereditary Hemorrhagic TelangiectasiaMotor Neuron Disorder Parkinsonism Population/Convenience ControlsTourette Syndrome

Mission and Organization

https://www.coriell.org/1/ninds/about/mission-and-organization

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

Frequently Asked Questions

https://www.coriell.org/1/ninds/about/ninds-repository-faq

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

Extended Families

https://www.coriell.org/1/nigms/collections/extended-families

(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

Genetic Testing Reference Material Coordination Program (GeT-RM)

https://www.coriell.org/1/nigms/additional-resources/multiply-confirmed-mutations-get-rm

Kalman, et al. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. J Mol Diagn. 2013 Jul;15(4):518-25. (PMID: 23680132)Kalman, et al. Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. J Mol Diagn. 2014 Mar

Gonadal Dysgenesis Syndromes

https://www.coriell.org/1/nigms/linkouts/gonadal-dysgenesis-syndromes

NIGMS Human Genetic Cell Repository linkouts gonadal-dysgenesis-syndromes

Increased Chromosome Breakage Syndromes

https://www.coriell.org/1/nigms/linkouts/increased-chromosome-breakage-syndromes

NIGMS Human Genetic Cell Repository linkouts increased-chromosome-breakage-syndromes

NIA

https://www.coriell.org/1/nia

Alzheimer disease, progeria, Parkinsonism, Werner syndrome, and Cockayne syndrome.Disease Samples

Adolescent Study of Obesity

https://www.coriell.org/1/nia/collections/adolescent-study-of-obesity

affect body composition, fat distribution, or both, e.g., Cushing syndrome, Down syndrome, type 1 diabetes, and hypothyroidism; andabsence of diagnosis of any major illnesses since birth.All children returned annually for follow-up visits over three to six years. Data available for the individuals in this resource include

Mission and Organization

https://www.coriell.org/1/nia/about/mission-and-organization

These samples have been used in the identification of many disease genes including the gene for Hutchinson Gilford Progeria Syndrome.The collections of the Repository include premature aging disorders, Alzheimer Disease, Gerontology Research Center samples from the Baltimore Longitudinal Study of Aging, the Longevity

CDC

https://www.coriell.org/1/cdc

10' methylenetetrahydrofolate reductase deficiency (MTHFR), HFE-associated hereditary hemochromatosis, Huntington disease (HD), fragile X syndrome, Muenke syndrome, connexin 26-associated deafness, and alpha-thalassemia.CDC GeT-RM ProgramThe Centers for Disease Control and Prevention (CDC) Genetic Testing Reference

Mission and Organization

https://www.coriell.org/1/cdc/about/mission-and-organization

Cell Repositories. Diseases include cystic fibrosis (CF), 5' 10' methylenetetrahydrofolate reductase deficiency (MTHFR), HFE-associated hereditary hemochromatosis, Huntington disease (HD), fragile X syndrome, Muenke syndrome, connexin 26-associated deafness, and alpha-thalassemia.These reference cell lines contain

Glossary of Terms

https://www.coriell.org/1/autism/glossary-of-terms

distinctively deviant relative to the individuals' developmental level or mental age. These disorders consist of Autistic Disorder, Rett Syndrome, Childhood Disintegrative Disorder, Asperger Syndrome, and Pervasive Developmental Disorder Not Otherwise Specified.Autistic Disorder: The essential features of Autistic Disorder are the

Rett Syndrome

https://www.coriell.org/1/rett-syndrome

organizations. iPSC CollectionAbout Rett SyndromeRett syndrome is a rare, neurological disorder that presents itself in children, mostly girls, from 6 to 18 months old. Early signs of the disease include loss of speech and hand use, and other neurological functions. Rett syndrome results from mutations in the MECP2 gene, a gene

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