Search Results to Gyungah R. Jun, PhD

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Research Expertise & Professional Interests Biography: Dr. Jun is a globally renowned Alzheimer’s disease (AD) geneticist and an expert in analysis of “big data”. Her innovative contributions to the Alzheimer’s Disease Genetics Consortium (ADGC) and the International Genomics of Alzheimer’s Project (IGAP) has fundamentally changed the approach to identify AD risk genes within APOE genotype subgroups. Dr. Jun is currently the Chair of three working groups in these consortia and has served as a Session Chair on multiple occasions at national and international conferences. Dr. Jun is currently a Director and Head of Neurogenetics and Integrated Genomics at the Andover Innovative Medicines (AiM) Institute, Eisai Inc., while maintaining a research program at BUSM that is independent of her role in the company. Since starting her current position in private industry in August 2015, Dr. Jun has developed an innovative and novel therapeutic concept for AD based on the well-established protective effect of the APOE e2 allele. Currently, Dr. Jun is involved in several researches focusing on integrated genomics and innovative medicine for AD. Understanding APOE Mediated Mechanism and Brain Omics Research: APOE is the major risk gene for late onset Alzheimer’s disease. In US and international genetics consortium, Dr. Jun led and conducted innovative analysis approaches to identify distinct genetic signatures contributing to Alzheimer’s disease risk in APOE4-positive vs. APOE4-negative subgroups. This effort has reported one of the most striking discoveries in the Alzheimer’s disease genetics field that genetic variants in the MAPT/KANSL1 locus are strongly associated with Alzheimer’s disease among subjects who do not carry the APOE4 allele of the APOE gene (Jun et al. 2015). This is an important breakthrough in Alzheimer’s disease genetics, because for the first time APOE genotypes modulate effects of MAPT locus on Alzheimer’s disease risk. The follow-up analysis of the initial report (Jun et al. 2016) using APOE2-carrier subjects by separating from the APOE4-negative subgroup has discovered genetic variants in PPP2CB with strong genetic interaction with the APOE2 allele, where PPP2CB encodes a catalytic subunit of protein phosphatase 2A that is responsible about 71% of tau phosphatase activities in human brain (reducing tau phosphorylation). After the first report of APOE as the major genetic risk factor for Alzheimer’s disease in 1993, therapeutic concepts targeting APOE primarily involve in correcting or inhibiting the APOE4 effect, the risk factor for Alzheimer’s disease. For the first time, beyond APOE4, Dr. Jun has developed a novel therapeutic concept for Alzheimer’s disease that mimics the APOE2 protective mechanism. A five-year grant proposal based on this innovative idea was funded by the NIH/NIA starting in 2017 (RF1-AG057519; Multiple PIs: Farrer and Jun). In this project, we will perform functional experiments for connecting APOE2 protective mechanism to tau and conduct in vitro proof-of-concept experiments for developing new drugs for Alzheimer’s disease based on APOE-mediated protective mechanisms. After these findings, Dr. Jun published 5 papers deciphering APOE related disease mechanisms including one as last author (Reiman et al. Nature Communications 2020) and four as co-author (Ma et al. JAMA Neurology 2019; Choi et al. Journal of Clinical Medicine 2019; Arboleda-Velasquez et al. Nature Medicine 2019; Friedberg et al. Scientific Reports 2020). Drug Discovery and Repurposing in Alzheimer’s Disease Therapeutics: From 2015 to 2018, Dr. Jun served as a Director and Head of Neurogenetics and Integrated Genomics for Andover Innovative Medicines (AiM) Institute which is the Eisai company’s R&D unit for neurology and oncology in the US. Her role in the company was to identify Alzheimer’s disease drug targets by creating novel therapeutic concepts derived from human genetics and genomics data and help design proof-of-mechanism studies based on disease associated genetic variants and brain omics data collaborating with biologists and chemists. During her tenure with Eisai, she maintained my academic position at BUSM as an Adjunct Faculty in order to continue academic research programs. Dr. Jun developed a novel therapeutic concept predicated on the idea that Alzheimer’s disease could be delayed or prevented by elucidating and mimicking the protective mechanism of the APOE e2 allele. Translational research for AD therapeutics remains her main focus and will occupy the majority of her effort. Dr. Jun has contributed to development of a large coordinated national initiative for AD therapeutics empowered by transformative Artificial Intelligence (AI) approaches using high throughput human big data, collaborating with national profit and non-profit institutes. Dr. Jun will serve as the Director of a ‘Genome-Guided Drug Discovery Core’ that will lead efforts on innovative drug discovery for AD, repurposing existing drugs, and developing a platform for open collaboration between academia and industry. Ethnic Diversity Research in Alzheimer’s Disease: Dr. Jun has directed the genetic analyses for several projects aimed at identifying Alzheimer’s disease genetic risk variants for Alzheimer’s disease in multi-ethnic cohorts, which led to 4 publications including co-first author on papers focused on European ancestry (Naj, Jun et al. Nature Genetics 2011) and Asian (Miyashita, Koike, Jun et al. PLos One 2013) populations, second author on a paper focused on African Americans (Reitz, Jun et al. JAMA 2013), and first author of a trans-ethnic study (Jun et al. Alzheimers & Dementia 2017). These studies emphasized shared and/or unique genetic signatures in different ethnic populations. These publications have significantly improved our understandings in effect sizes and frequencies of genetic risk variants for Alzheimer’s disease in multi-ethnic populations. Dr. Jun has been a project leader at the Alzheimer’s Disease Genetics Consortium to understand ethnic similarities and differences on genetic risk profiles for Alzheimer’s disease and influence of APOE in a transethnic approach. In January 2017, she has published the first report on trans-ethnic genetics for Alzheimer’s disease using the large number of multi-ethnic subjects. She has also contributed to the identification of a genetic modifier for the effect size of APOE4 homozygotes in Koreans. This report demonstrates the importance of investigating effect sizes of known Alzheimer’s disease genetic risk factors (i.e., APOE) as well as trans-ethnic profiles of genetic risk factors for Alzheimer’s disease using multi-ethnic datasets. Dr. Jun established an international collaborative network to share resources of Asian populations and coordinate research programs for Alzheimer’s disease using Asian populations. In addition, Dr. Jun initiated a collaboration between our research team at BUSM and a group at Chosun University in South Korea and will contribute to a funded project that will perform whole genome sequencing in a sample of 4,000 Korean Alzheimer’s disease cases and controls. Dr. Jun is a founding member of a large Asian Cohort for Alzheimer’s Disease (ACAD) Consortium that will recruit and study genetic and non-genetic risk factors for AD using Korean, Chinese, and Vietnamese Americans in US and Canada. In this consortium, she will lead the Analysis Core and recruit Korean American AD cases and controls in collaboration with investigators at the University of Massachusetts in Boston. Innovative Genetic Studies in the Framingham Heart Study: Dr. Jun has extensive worked on analyzing family-based genetic data in the Framingham Heart Study (FHS) leading to discoveries of two novel genes for Alzheimer’s disease, CTNND2 and PLXNA4. These findings were bolstered by functional studies performed in eye and brain tissue, respectively, by our BUSM collaborators. Claims for diagnostic and therapeutic applications of PLXNA4 have been filed at US Patent and Trademark Office (USSN: 14/889,565) and Patent Cooperation Treaty (PCT/US2014/037479). These discoveries also contributed to the basis of a newly funded U19 grant to NIH to establish a FHS Brain Aging Program (FHS-BAP). In this program, Dr. Jun will co-lead a project in the proposed program that will continue surveillance and examination of FHS participants for cognitive decline and dementia and the FHS brain donation program. This large program will also conduct research related to themes of identification of genetic factors and biomarkers for Alzheimer’s disease risk and resilience, and vascular/inflammatory precursors of Alzheimer’s disease. US and International Alzheimer’s Disease Consortium Activities: Dr. Jun helped build an outstanding research program of genetics and genomics for Alzheimer’s disease using large datasets from national and international consortia including the Alzheimer’s Disease Genetics Consortium (ADGC) and the International Genomics of Alzheimer’s Project (IGAP). For the past 10 years working, Dr. Jun is a key faculty to establish one of the strongest genetic and genomic data science teams studying Alzheimer’s disease genetics worldwide. She has been a core member of these large consortium teams evidenced by leading primary analysis and data management activities, many high profile papers including ones as lead or senior author, designing and writing large sections of grant applications to support the work of these and other Alzheimer’s disease genetic consortia, and reviewing applications from investigators worldwide who request access to ADGC datasets containing genetic and phenotypic information from tens of thousands of research subjects.
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Item TypeName
Concept Alleles
Concept Alzheimer Disease
Concept Amino Acid Sequence
Concept Base Sequence
Concept Computer Simulation
Concept Cross-Sectional Studies
Concept Data Interpretation, Statistical
Concept Disease
Concept Disease Models, Animal
Concept Educational Status
Concept Epistasis, Genetic
Concept Factor Analysis, Statistical
Concept Follow-Up Studies
Concept Genes
Concept Genes, Recessive
Concept Multigene Family
Concept Glomerulosclerosis, Focal Segmental
Concept Heat-Shock Proteins
Concept Lod Score
Concept Longitudinal Studies
Concept Molecular Sequence Data
Concept New South Wales
Concept Organ Size
Concept Prospective Studies
Concept Receptors, Cell Surface
Concept Reference Standards
Concept Sensitivity and Specificity
Concept Severity of Illness Index
Concept Sex Factors
Concept Smoking
Concept Specimen Handling
Concept Statistics as Topic
Concept Sweden
Concept United States
Concept Cohort Studies
Concept Multicenter Studies as Topic
Concept Signal Transduction
Concept Genome, Human
Concept Chi-Square Distribution
Concept Survival Analysis
Concept Epidemiologic Studies
Concept Case-Control Studies
Concept Sequence Alignment
Concept Sequence Homology, Amino Acid
Concept Sequence Analysis, DNA
Concept Protein Structure, Tertiary
Concept Disease Progression
Concept Patient Selection
Concept Neurodegenerative Diseases
Concept Genetic Predisposition to Disease
Concept Oligonucleotide Array Sequence Analysis
Concept Polymorphism, Single Nucleotide
Concept Metabolic Syndrome X
Concept Symporters
Concept Organic Anion Transporters, Sodium-Dependent
Concept Siblings
Concept Quantitative Trait Loci
Concept DNA Repeat Expansion
Concept Adaptor Proteins, Signal Transducing
Concept Systems Biology
Concept Genome-Wide Association Study
Concept Genetic Loci
Concept Genetic Association Studies
Concept Endosomal Sorting Complexes Required for Transport
Concept Nuclear Receptor Subfamily 1, Group F, Member 1
Concept Genetic Pleiotropy
Concept Transcriptome
Concept Exome
Concept Wnt Signaling Pathway
Concept Sialic Acid Binding Ig-like Lectin 3
Academic Article Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration.
Academic Article An autosome-wide search using longitudinal data for loci linked to type 2 diabetes progression.
Academic Article Structural equation model-based genome scan for the metabolic syndrome.
Academic Article Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study.
Academic Article The Family Investigation of Nephropathy and Diabetes (FIND): design and methods.
Academic Article Genome-wide analyses demonstrate novel loci that predispose to drusen formation.
Academic Article Optimizing the evidence for linkage by permuting marker order.
Academic Article Genome-wide linkage study of retinal vessel diameters in the Beaver Dam Eye Study.
Academic Article Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND).
Academic Article Genetics of pigment changes and geographic atrophy.
Academic Article Reliability of urinary albumin, total protein, and creatinine assays after prolonged storage: the Family Investigation of Nephropathy and Diabetes.
Academic Article Genome-wide scan for estimated glomerular filtration rate in multi-ethnic diabetic populations: the Family Investigation of Nephropathy and Diabetes (FIND).
Academic Article Heritability of the severity of diabetic retinopathy: the FIND-Eye study.
Academic Article MYH9 is associated with nondiabetic end-stage renal disease in African Americans.
Academic Article Genome-wide linkage scans for type 2 diabetes mellitus in four ethnically diverse populations-significant evidence for linkage on chromosome 4q in African Americans: the Family Investigation of Nephropathy and Diabetes Research Group.
Academic Article EPHA2 is associated with age-related cortical cataract in mice and humans.
Academic Article Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.
Academic Article Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology.
Academic Article Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Academic Article A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.
Academic Article Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration.
Academic Article Genome-wide association study of Alzheimer's disease.
Academic Article Using linkage analysis of large pedigrees to guide association analyses.
Academic Article Novel late-onset Alzheimer disease loci variants associate with brain gene expression.
Academic Article Multiple loci influencing hippocampal degeneration identified by genome scan.
Academic Article Comprehensive search for Alzheimer disease susceptibility loci in the APOE region.
Academic Article d-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes.
Academic Article Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
Academic Article Seven new loci associated with age-related macular degeneration.
Academic Article SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
Academic Article Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ?4,and the risk of late-onset Alzheimer disease in African Americans.
Academic Article Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP).
Academic Article Alzheimer''s disease: analyzing the missing heritability.
Academic Article Genome-wide association study of the rate of cognitive decline in Alzheimer''s disease.
Academic Article Gene-wide analysis detects two new susceptibility genes for Alzheimer''s disease.
Academic Article Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
Academic Article TREM2 and neurodegenerative disease.
Academic Article Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer''s disease.
Academic Article Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.
Academic Article Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways.
Academic Article Missense variant in TREML2 protects against Alzheimer''s disease.
Academic Article Rarity of the Alzheimer disease-protective APP A673T variant in the United States.
Academic Article A novel Alzheimer disease locus located near the gene encoding tau protein.
Academic Article PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation.
Academic Article Genetically predicted body mass index and Alzheimer''s disease-related phenotypes in three large samples: Mendelian randomization analyses.
Academic Article Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study.
Academic Article Global and local ancestry in African-Americans: Implications for Alzheimer''s disease risk.
Academic Article Assessment of the genetic variance of late-onset Alzheimer''s disease.
Academic Article Associations Between Methylenetetrahydrofolate Reductase Polymorphisms, Serum Homocysteine Levels, and Incident Cortical Cataract.
Academic Article Two novel loci, COBL and SLC10A2, for Alzheimer''s disease in African Americans.
Academic Article Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.
Academic Article Transethnic genome-wide scan identifies novel Alzheimer''s disease loci.
Academic Article Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer''s disease.
Academic Article Genome-wide association study of Alzheimer''s disease endophenotypes at prediagnosis stages.
Academic Article Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer''s disease.
Academic Article Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer''s Disease Sequencing Project.
Award or Honor Receipt Academy for Faculty Advancement, Department of Medicine
Award or Honor Receipt Research Fellow Award, Evans Center for Interdisplinary Biomedical Research
Award or Honor Receipt Student-of-the-Year Award, Department of Epidemiology and Biostatistics
Academic Article Aldose Reductase Polymorphisms, Fasting Blood Glucose, and Age-Related Cortical Cataract.
Academic Article Alzheimer’s disease genetics and status of drug development
Academic Article Partial Purification of Human B-Lymphocyte Inducing Factor (BIF) using Single Cell Cloning (Master's Thesis)
Academic Article Comparison of methods for multivariate gene-based association tests for complex diseases using common variants.
Academic Article Genetic meta-analysis of diagnosed Alzheimer''s disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing.
Academic Article Association of Cognitive Function with Amyloid-ß and Tau Proteins in the Vitreous Humor.
Academic Article CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late-onset Alzheimer disease.
Academic Article Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype.
Academic Article Author Correction: Genetic meta-analysis of diagnosed Alzheimer''s disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing.
Academic Article APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE e4 on Alzheimer''s Disease Risk in a Multiracial Sample.
Academic Article Resistance to autosomal dominant Alzheimer''s disease in an APOE3 Christchurch homozygote: a case report.
Academic Article Exceptionally low likelihood of Alzheimer''s dementia in APOE2 homozygotes from a 5,000-person neuropathological study.
Academic Article Associations between brain inflammatory profiles and human neuropathology are altered based on apolipoprotein E e4 genotype.
Academic Article Neurofilament light chain in the vitreous humor of the eye.
Academic Article Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.
Grant Genomic and Biological Studies of APOE e2 in Alzheimer's Disease
Academic Article Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract.

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