Genomic medicine and gene function implementation for an underserved population
针对服务不足人群的基因组医学和基因功能实施
基本信息
- 批准号:10640103
- 负责人:
- 金额:$ 96.22万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2021
- 资助国家:美国
- 起止时间:2021-07-13 至 2026-04-30
- 项目状态:未结题
- 来源:
- 关键词:AffectAmericanArtificial IntelligenceAttitudeBioinformaticsBiological AssayCandidate Disease GeneCaringChildClinicClinicalComputersDNADNA sequencingDataDatabasesDiagnosisDiseaseDrosophila genusDrosophila melanogasterEnrollmentExpert SystemsExplosionFamilyFutureGenesGenetic CounselingGenetic DiseasesGenetic ResearchGenetic VariationGenetic studyGenomeGenomic medicineGenomicsGoalsGrantHealth InsuranceHealthcareHospitalsHumanHuman GeneticsIndividualInformaticsInsuranceInsurance CoverageLearningMachine LearningMedicalMedical GeneticsMedicineMinority GroupsModelingMolecular GeneticsNational Human Genome Research InstituteParentsPatient-Focused OutcomesPatientsPediatric HospitalsPerceptionPersonsPlayPopulationRare DiseasesRecommendationReportingResearchResearch PersonnelRoleScientistSocietiesTechnologyTestingTexasTimeTrainingUnderserved PopulationValidationVariantWorkactionable mutationbioinformatics toolcohortcollegecostdesigndiagnostic toolethnic minorityexomeexome sequencingexperiencefollow-upgene discoverygene functiongenetic disorder diagnosisgenomic datainnovationinsightinterestlow socioeconomic statusmedical schoolsmodel organismnetwork modelsnoveloperationpersonalized genomicspersonalized medicineprobandprogramsprotein functionpsychologicpublic health insurancerecruitresearch clinical testingresearch studyscreeningsocialsuccesstoolvirtual visit
项目摘要
PROJECT SUMMARY
Here we propose to advance the goal of NHGRI to implement genomic medicine and focus on individuals
who have not been able to afford DNA testing. The research takes place in the Department of Molecular and
Human Genetics at Baylor College of Medicine (BCM) and Texas Childrens Hospital (TCH). Our team of
clinicians, geneticists, computer scientists, genomicists and model organism researchers has had a five-year
term of success with the Undiagnosed Diseases Network (UDN) Model Organisms Screening Center (MOSC).
This has included successfully identifying a number of new disease genes such as EBF3, IRF2BPL, NACC1,
TBX2, TOMM70, CDK19, ACOX1, WDR37, and ATP5F1D. We propose to recruit 100 individuals from an
underserved population in Houston, Texas with suspected rare disease and without the means to pay for
DNA sequencing through insurance. We will provide whole-exome sequencing which will generate a CAP/CLIA
report that we anticipate could diagnose 35-40 individuals per year. The remaining individuals will then be
converted to a family-based trio exome design. All the sequencing costs of this project will be covered by
philanthrophic donation to our hospital and are not budgeted to the grant. We will make every effort to
diagnose the remaining 60 individuals per year through machine learning and informatics using the MARRVEL
platform, Drosophila functional studies of candidate genes and through ongoing 6 month, 12 month and 2 year
follow-up with the patients where we will use matchmaking efforts such as GeneMatcher and Matchmaker
exchange as well as our own genomic databases from the UDN and other studies to come to a genetic
diagnosis. All subjects will receive genetic counseling from a trained team and will provide us with valuable
medical, psychological and social data to guide how genomic implementation in an underserved population
is perceived, impacts care and impacts the family. This work will not only produce novel insights into rare
disease, diagnosis for undiagnosed families and an expanded role for genomics, it will guide us in the future
to provide genomics and functional research to serve all individuals regardless of their ability to pay.
项目总结
项目成果
期刊论文数量(36)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Lessons learned from additional research analyses of unsolved clinical exome cases.
- DOI:10.1186/s13073-017-0412-6
- 发表时间:2017-03-21
- 期刊:
- 影响因子:12.3
- 作者:Eldomery MK;Coban-Akdemir Z;Harel T;Rosenfeld JA;Gambin T;Stray-Pedersen A;Küry S;Mercier S;Lessel D;Denecke J;Wiszniewski W;Penney S;Liu P;Bi W;Lalani SR;Schaaf CP;Wangler MF;Bacino CA;Lewis RA;Potocki L;Graham BH;Belmont JW;Scaglia F;Orange JS;Jhangiani SN;Chiang T;Doddapaneni H;Hu J;Muzny DM;Xia F;Beaudet AL;Boerwinkle E;Eng CM;Plon SE;Sutton VR;Gibbs RA;Posey JE;Yang Y;Lupski JR
- 通讯作者:Lupski JR
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.
- DOI:10.1002/mgg3.2272
- 发表时间:2023-12
- 期刊:
- 影响因子:2
- 作者:
- 通讯作者:
Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila.
- DOI:10.1007/s13238-011-1073-7
- 发表时间:2011-07
- 期刊:
- 影响因子:21.1
- 作者:Wangler MF;Reiter LT;Zimm G;Trimble-Morgan J;Wu J;Bier E
- 通讯作者:Bier E
Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome.
黑斑息肉综合征患者异常早期出现小肠腺癌。
- DOI:10.1097/mph.0b013e318282db11
- 发表时间:2013
- 期刊:
- 影响因子:0
- 作者:Wangler,MichaelF;Chavan,Rishikesh;Hicks,MJohn;Nuchtern,JedG;Hegde,Madhuri;Plon,SharonE;Thompson,PatrickA
- 通讯作者:Thompson,PatrickA
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
具有 T 细胞白血病远史的青少年患者共济失调毛细血管扩张症的回顾性诊断。
- DOI:10.1097/mph.0000000000001672
- 发表时间:2021
- 期刊:
- 影响因子:0
- 作者:Sze,Sei-GyungK;Lederman,HowardM;Crawford,ThomasO;Wangler,MichaelF;Lewis,AndreaM;Kastan,MichaelB;Dibra,HarpreetK;Taylor,AlexanderMR;Wechsler,DanielS
- 通讯作者:Wechsler,DanielS
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{{ truncateString('HUGO J BELLEN', 18)}}的其他基金
Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish
果蝇和斑马鱼人类UDN基因同源物功能分析中心
- 批准号:
10600181 - 财政年份:2022
- 资助金额:
$ 96.22万 - 项目类别:
Genomic medicine and gene function implementation for an underserved population
针对服务不足人群的基因组医学和基因功能实施
- 批准号:
10450159 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
Functional Genomic Dissection of Alzheimer's Disease in Humans and Drosophila Models
人类和果蝇模型中阿尔茨海默病的功能基因组解剖
- 批准号:
10681445 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
IMPACTS OF GLIAL LIPID DROPLETS ON OXIDATIVE STRESS AND NEURODEGENERATION IN ALZHEIMER'S DISEASE
胶质脂滴对阿尔茨海默病氧化应激和神经变性的影响
- 批准号:
10804252 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
IMPACTS OF GLIAL LIPID DROPLETS ON OXIDATIVE STRESS AND NEURODEGENERATION IN ALZHEIMER'S DISEASE
胶质脂滴对阿尔茨海默病氧化应激和神经变性的影响
- 批准号:
10276761 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
A Comprehensive Resource for Manipulating the Drosophila Genome
操纵果蝇基因组的综合资源
- 批准号:
10267895 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
A Comprehensive Resource for Manipulating the Drosophila Genome
操纵果蝇基因组的综合资源
- 批准号:
10437006 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
IMPACTS OF GLIAL LIPID DROPLETS ON OXIDATIVE STRESS AND NEURODEGENERATION IN ALZHEIMER'S DISEASE
胶质脂滴对阿尔茨海默病氧化应激和神经变性的影响
- 批准号:
10640936 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
IMPACTS OF GLIAL LIPID DROPLETS ON OXIDATIVE STRESS AND NEURODEGENERATION IN ALZHEIMER'S DISEASE
胶质脂滴对阿尔茨海默病氧化应激和神经变性的影响
- 批准号:
10473724 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
Genomic medicine and gene function implementation for an underserved population
针对服务不足人群的基因组医学和基因功能实施
- 批准号:
10227469 - 财政年份:2021
- 资助金额:
$ 96.22万 - 项目类别:
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