Natalie Vena
A5068877687- Renal Diseases and Glomerulopathies
- Ovarian cancer diagnosis and treatment
- Renal and related cancers
- BRCA gene mutations in cancer
- Microtubule and mitosis dynamics
- Genomics and Rare Diseases
- Cancer Mechanisms and Therapy
- Glioma Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Chronic Kidney Disease and Diabetes
- Genetics and Neurodevelopmental Disorders
- Cancer-related Molecular Pathways
- Wnt/β-catenin signaling in development and cancer
- Genetic Syndromes and Imprinting
- Biomedical Ethics and Regulation
- Genomic variations and chromosomal abnormalities
- Renal Transplantation Outcomes and Treatments
- Neurofibromatosis and Schwannoma Cases
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Cancer Genomics and Diagnostics
- Ion Transport and Channel Regulation
- Digestive system and related health
- Bipolar Disorder and Treatment
- Vascular Tumors and Angiosarcomas
Columbia University Irving Medical Center
2022-2025
Columbia University
2020-2025
Brigham and Women's Hospital
2010-2013
Dana-Farber Cancer Institute
2008-2013
The University of Melbourne
2013
Peter MacCallum Cancer Centre
2013
Harvard University
2013
Dana-Farber Brigham Cancer Center
2010
Center for Cancer Research
2010
PURPOSE Perivascular epithelioid cell tumors (PEComas) represent a family of mesenchymal neoplasms, mechanistically linked through activation the mTOR signaling pathway. There is no known effective therapy for PEComa, and molecular pathophysiology aberrant provided us with scientific rationale to target this pathway therapeutically. On mechanistic basis, we treated three consecutive patients metastatic PEComa an oral inhibitor, sirolimus. PATIENTS AND METHODS Patients advanced were sirolimus...
Pleomorphic xanthoastrocytoma (PXA) is low-grade glial neoplasm principally affecting children and young adults. Approximately 40% of PXA are reported to recur within 10 years primary resection. Upon recurrence, patients receive radiation therapy conventional chemotherapeutics designed for high-grade gliomas. Genetic changes that can be targeted by selective therapeutics have not been extensively evaluated in ancillary diagnostic tests help discriminate from other pleomorphic often more...
The fallopian tube is now generally considered the dominant site of origin for high-grade serous ovarian carcinoma. However, molecular pathogenesis tube-derived carcinomas poorly understood and there are few experimental studies examining transformation human cells. Prompted by recent genomic analyses that identified cyclin E1 (CCNE1) gene amplification as a candidate oncogenic driver in carcinoma, we evaluated functional role carcinogenesis. Cyclin was expressed early- late-stage tumor...
Optic pathway gliomas represent a specific subtype of astrocytoma with unique clinicopathologic and biologic properties, but studies tumors in the optic nerve proper have been hampered by limited tissue availability. We analyzed 59 patients (median age, 9 years; range, 3 months-66 33 female, 26 male) using formalin-fixed paraffin-embedded material microarrays. Seven had clinical diagnosis neurofibromatosis type 1 (NF1). Fluorescence situ hybridization were performed for BRAF, PTEN, CDKN2A...
Significance Statement APOL1 high-risk genotypes confer a significant risk of kidney disease, but variability in patient outcomes suggests the presence modifiers effect. We show that diverse population CKD patients with have an increased lifetime failure and higher eGFR decline rates, graded among specific genotypes. lower diagnostic yield for monogenic disease. Exome sequencing revealed enrichment rare missense variants within inflammasome pathway modifying effect genotypes, which may...
Ovarian cancer is a leading cause of mortality in women. The aim this study was to elucidate whether whey acidic protein (WAP) genes on chromosome 20q13.12, region frequently amplified cancer, are expressed serous carcinoma, the most common form disease. Herein, we report that trio WAP (HE4, SLPI, and Elafin) overexpressed secreted by ovarian carcinomas. To our knowledge, first linking Elafin cancer. Fluorescence situ hybridization analysis primary tumors demonstrates genomic gains locus...
Background and objectives Actionable genetic findings have implications for care of patients with kidney disease, testing is an emerging tool in nephrology practice. However, there are scarce data regarding best practices return results clinical application actionable patients. Design, setting, participants, & measurements We developed a workflow collaborations clinicians the retrospective recontact adult who had been recruited into biobank research study exome sequencing were identified...
Cardiovascular disease, infection, malignancy, and thromboembolism are major causes of morbidity mortality in kidney transplant recipients (KTR). Prospectively identifying monogenic conditions associated with post-transplant complications may enable personalized management. Therefore, we developed a panel (355 genes) including cardiometabolic disorders, immunodeficiency, thrombophilia. This gene was then evaluated using exome sequencing data from 1590 KTR. Additionally, genes genitourinary...
BACKGROUNDIt is unknown whether the risk of kidney disease progression and failure differs between patients with without genetic disorders.METHODSThree cohorts were evaluated: prospective Cure Glomerulonephropathy Network (CureGN) 2 retrospective from Columbia University, including 5,727 adults children any etiology who underwent whole-genome or exome sequencing. The effects monogenic disorders APOL1 kidney-risk genotypes on failure, estimated glomerular filtration rate (eGFR) decline,...
The recognition that up to 10% of individuals with kidney diseases might obtain a genetic diagnosis has led testing becoming critical component nephrology practice. Genetic counselors have expertise in providing genomic services, which include counseling and testing. They play crucial role by helping patients estimate their risks, understand the impact results, coordinating follow-up care. Nephrologists are pivotal position offer services directly or refer them before after should therefore...
Whole-genome copy number analysis platforms, such as array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) arrays, are transformative research discovery tools. In cancer, the identification of aberrations with these approaches has generated important diagnostic prognostic markers, critical therapeutic targets. While robust for basic studies, reliable whole-genome been unsuccessful in routine clinical practice due to a technical limitations. Most important,...
Abstract SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as mitotic chromosome associated protein. depletion leads to centrosome detachment from the spindle poles and misalignment. Aided by gene matching platforms, here we identify 28 individuals with neurodevelopmental delays 21 families bi-allelic variants in detected exome/genome sequencing. Zebrafish spout1/cenp-32 mutants show reduction larval head size concomitant apoptosis likely altered cell cycle...
Significance Statement Pathogenic structural genetic variants, also known as genomic disorders, have been associated with pediatric CKD. This study extends those results across the lifespan, disorders enriched in both and adult patients compared controls. In Chronic Renal Insufficiency Cohort study, were lower serum Mg, educational performance, a higher risk of death. A phenome-wide association confirmed link between kidney disease an unbiased way. Systematic detection can provide molecular...
Studies have shown that as many 1 in 10 adults with chronic kidney disease has a monogenic form of disease. However, genetic services adult nephrology are limited. An Kidney Genetics Clinic was established within the division at large urban academic medical center to increase access and testing Between June 2019 December 2021, total 363 patients were referred Clinic. Of those who completed testing, positive diagnostic finding identified 27.1%, candidate 6.7% patients, nondiagnostic an...
In recent years, the widespread use of next-generation sequencing has led to exponential rise in number new gene-disease associations reported literature. The genetic counseling field also evolved within this time, as counselors (GCs) involved genomic research and testing have increased. Here we present experience GC team at Institute for Genomic Medicine (IGM) Columbia University Irving Center (CUIMC) with discovery.