开幕式

视网膜血管病变分子机制研究

耳聋基因治疗：从研发到临床

靶向肿瘤异质性遏制免疫治疗耐受

休息

液体活检的进展和临床应用

Unlock the dormant regenerative capacity in mammals

短肽在疾病治疗中的应用探索

遗传性听力损失人工耳蜗植入预后评价

MED16 双等位基因变异导致新型神经发育障碍

CIZ1在上皮组织发育与稳态调控中的作用机制

全读长测序技术在遗传病检测中的应用

休息

基于眼遗传病大队列的结构变异检测和分析

Identification of a Rare BRCA2 Frameshift Variant (c.7523_7526delGCAG; p.G2508Vfs*15) in a Three-Generation Chinese Family and Assessment of Its Pathogenicity

TWNK基因变异致听神经病的分子机制研究

先天性牙齿缺失遗传-表型异质性研究及新基因挖掘

ENPP1 promotes cancer progression and cisplatin resistance in HPSCC by inhibiting the cGAMP/STING signal in Cancer-Associated Fibroblasts (CAFs)

Distinguish Glucokinase (GCK) Maturity-Onset Diabetes of the Young from asymptomatic (pre)type 2 diabetes in children

早期快速的检测策略在热性惊厥起病儿童中对潜在遗传性癫痫的精准诊疗

GM-CSF improves the receptivity of thin endometrium by promoting glandular and stromal cell proliferation in mice and humans

全基因组测序鉴定中国早发性阿尔茨海默病患者APP基因重复

成人起病的白质脑病伴轴索球样本变和色素胶质细胞的治疗机制探索

糖修饰相关疾病的机制及创新药物研发

TRPV4-I795变异通过增强破骨细胞功能导致遗传性骨病的发病机制研究

Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells

基于纳米孔测序技术的快速基因组测序和药物基因组测序方案

休息

微管相关蛋白编码基因MAP1A与特发性局灶性癫痫相关

CD169缺失介导巨噬细胞在骨骼肌损伤修复中的作用研究

PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation

VRK1基因变异所致运动神经元病的致病机制研究

Integrated eQTL–pQTL Mendelian Randomization and Single-Cell Sequencing Uncover Novel Therapeutic Targets for Hereditary Sideroblastic Anemia

SMC3通过调控超级增强子和启动子相互作用维持心脏发育特异性基因表达谱

iRUNNER: A Baseline Mutation Burden Regression for Identifying Gene Interaction between Rare Variants for Diseases

Variants in TRIM49 cause retinitis pigmentosa by affecting ULK1-mediated autophagy and photoreceptor phagocytosis by the retinal pigment epithelium

Rare deleterious variants in TBXT contribute to human spina bifida risk

孤独症的遗传调控机制

利用患者自体诱导性多能干细胞鉴别AD新突变位点并建立早期诊断方法

Mate-pair sequencing reveals structural variations in recurrent spontaneous abortion couples with a history of abnormal copy number variants in aborted embryos

Haplotype-Resolved Genotyping and Association Analysis of 1,020 𝜷-Thalassemia Patients by Targeted Long-Read Sequencing

休息

5例KMT2D基因变异致胎儿Kabuki综合征1型的遗传学分析及产前诊断

NLRP1基因突变致儿童多发性大动脉炎伴坏疽性脓皮病1例 的长期治疗观察及炎症小体相关指标动态监测

RBFOX1调控心脏可变剪接影响核纤层蛋白病心肌成熟

HACE1基因的VUS变异在痉挛性截瘫及精神运动迟缓伴或不伴癫痫中的遗传学分析

TMEM132E缺失减少TrkB受体再循环抑制TrkB信号传导从而诱发焦虑和抑郁样行为

Founder mutation and PPAR/PGC-1–Mediated Lipid Metabolism–Mitochondria Imbalance in Gitelman Syndrome

先天性内耳畸形患者的分子致病谱及基因型–表型关联分析：基于结构分类的大样本研究

De Novo and Inherited CUL1 Variants Cause a Novel Neurodevelopmental Disorder with Microcephaly: Genetic Discovery and Functional Validation in Zebrafish

Novel SLC16A2 Mutations Impair Thyroid Hormone Transport to Drive Neurodevelopmental Deficits in Allan-Herndon-Dudley Syndrome: Functional Validation in Chinese Patients

Genomic analysis of 2,603 fetuses with congenital heart disease: diagnostic yield, risk stratification, and rare variant pathways

Prioritizing druggable targets by mapping human disease-associated coding variants onto protein structures

Integrative projection of multi-layer omics data into the single-cell immune landscape

Genome assembly resources of genitourinary cancers for chromosomal aberration at the single nucleotide level

LRS-Based Targeted Gene Profiling for Complicated Genetic Diseases

Genetic Legacy of the Jomon Hunter-Gatherers: Linking Ancient Ancestry to Modern Japanese Health

The role of BMP in synaptic development

自噬相关基因变异对β-地贫的表型修饰作用

红斑狼疮的精准诊治

AI+大数据驱动的精准医学研究

休息

From genetic associations to genes and spatial cellular contexts for human complex traits

非人灵长类遗传进化与疾病模型

结晶样视网膜变性基因治疗临床进展

STXBP1基因相关脑病新兴治疗研究初探

中国33,894名新生儿的遗传筛查研究：多种单基因病的预测发病率与变异特征分析

TMEM53 基因错义变异产生新的泛素化位点介导蛋白缺失效应

Expanding Neurofibromatosis Variant Spectrum: a 97-Patient Cohort Study

Integrating Multimodal Genetic Diagnostics Reveals Six Novel Variants in Fetal Skeletal Dysplasias: A 87-Case Cohort Study

休息

河南地区165例失盐型21-羟化酶缺乏症患儿临床及遗传学特点分析

Clinical Phenotypes and Genetic Mutation Analysis of 45 Neonatal-Onset Methylmalonic Acidemia

Prenatal diagnosis in fetuses with congenital anomalies of the kidney and urinary tract

贵阳市33013例汉族新生儿地中海贫血筛查及地中海贫血基因检测结果分析

基于长片段测序的无先证者单体型构建技术在α-地中海贫血PGT-M中的应用实践

儿童重症监护病房重症感染性疾病遗传病因分析

罕见母源致病性Xq28片段重复分子核型鉴别及遗传咨询

高度近视疾病基因及致病机制研究

高尿酸血症致病新基因的发现

METTL3-Mediated m6A Methylation Maintains Photoreceptor Integrity and Visual Function

The pathogenesis of polysyndactyly associated with GLI3 variants based on patient-derived cells

EGR1-SOX8转录调控介导FGFR3+耳廓软骨干细胞定向分化的机制研究

Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes

休息

Epigenetic clock analyses of schizophrenia, bipolar disorder and major depressive disorder

基因编辑治疗杜氏肌营养不良症的策略探讨

应用中国不同民族永生细胞库解析传染病的遗传易感性机制

Statins Improve Age-Related Macular Degeneration by Alleviating ABCA1 Loss-Induced Intracellular Lipid Accumulation, Mitochondrial Dysfunction, and Autophagic Impairment

Targeting neuronal cuproptosis and neuroinflammation with biomimetic nanoparticle for the therapy of radiotherapy-induced brain injury

RUNX1异构体表达失调导致唐氏综合征线粒体功能障碍的机制研究

CUL4B调控代谢相关脂肪性肝病的作用机制研究

全基因组测序大数据一体化分析工具包-以UKBB为例

脑钙化症的致病机制和干预策略

探索结节性硬化症的临床异质性：个性化医疗之路

基于致病机制的寡基因型难治性癫痫药物选择研究

数字PCR联合检测突变及连锁SNP实现β-地中海贫血无创产前检测

Clinical and Genetic Basis of Congenital Gonadotropin Deficiency

休息

OTOF基因L1665P突变小鼠模型的建立及研究

基于iMOS发现肿瘤相关巨噬细胞新型免疫检查点LTBR

先天性晶状体脱位的基因突变谱系及基因型表型关联性研究

中心体蛋白在精子发生过程中的作用及机制研究

全外显子测序技术辅助诊断26例单亲二体相关的临床特点及遗传学分析

非编码区等位基因特异性甲基化变异调控MYOM2表达参与精神分裂症的调控机制

Alternative splicing of secretin receptor drives the occurrence of pancreatic ductal adenocarcinoma