Sophia Schneider
A5053942821- Renal and related cancers
- Renal cell carcinoma treatment
- Pediatric Urology and Nephrology Studies
- Genetic and Kidney Cyst Diseases
- Prenatal Screening and Diagnostics
- Urological Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Genetic factors in colorectal cancer
- Lymphatic Disorders and Treatments
- Renal Diseases and Glomerulopathies
- Organ Donation and Transplantation
- Spinal Dysraphism and Malformations
- Genomics and Rare Diseases
- Urinary Bladder and Prostate Research
- Celiac Disease Research and Management
- Molecular Biology Techniques and Applications
- Organ Transplantation Techniques and Outcomes
- Single-cell and spatial transcriptomics
- Dermatological and Skeletal Disorders
- Lymphatic System and Diseases
- Lung Cancer Diagnosis and Treatment
- Ion Transport and Channel Regulation
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Bladder and Urothelial Cancer Treatments
Boston Children's Hospital
2020-2025
Harvard University
2020-2025
University Hospital Bonn
2020-2024
Infectious Disease Research Institute
2024
Karl Storz (Germany)
2023
University of Bonn
2022-2023
Boston Children's Museum
2020-2021
University Medical Centre Mannheim
2015
Heidelberg University
2015
University Hospital Heidelberg
2015
Previous studies in xenopus and zebrafish (zf) provide a detailed description of the embryonic role phosphate transporter slc20a1a early pronephric kidney formation. The recent identification SLC20A1 as monoallelic candidate gene for cloacal exstrophy further suggests its involvement lower urinary tract urorectal development. However, knowledge about formation is poor. To broaden our understanding impact development we induced morpholino oligonucleotide (MO) knockdown orthologue slc20a1a....
Malaria, caused by Plasmodium parasites, imposes a significant health burden and live-attenuated parasites are being pursued as vaccines. Here, we report on the creation of genetically attenuated parasite deletion LINUP, encoding liver stage nuclear protein. In rodent yoelii, LINUP expression was restricted to nuclei after onset schizogony. Compared wildtype P. yoelii gene (linup
Abstract Background With Surgomics, we aim for personalized prediction of the patient's surgical outcome using machine-learning (ML) on multimodal intraoperative data to extract surgomic features as process characteristics. As high-quality annotations by medical experts are crucial, but still a bottleneck, prospectively investigate active learning (AL) reduce annotation effort and present automatic recognition features. Methods To establish development features, ten video-based related...
Congenital anomalies of the kidneys and urinary tract (CAKUT) are most common cause chronic kidney disease among children adults younger than 30 yr. In our previous study, whole-exome sequencing (WES) identified a known monogenic isolated or syndromic CAKUT in 13% families with CAKUT. However, WES has limitations detection copy number variations (CNV) is technically challenging, CNVs causative have previously been detected up to 16% cases.
Congenital lower urinary tract obstructions (LUTO) are most often caused by posterior urethral valves (PUV), a male limited anatomical obstruction of the urethra affecting 1 in 4,000 live births. Little is known about genetic background PUV. Here, we report largest genome-wide association study (GWAS) for PUV 4 cohorts patients and controls. The final meta-analysis included 756 4,823 ethnicity matched controls comprised 5,754,208 variants that were genotyped or imputed passed quality control...
Abstract The acronym VATER/VACTERL refers to the rare nonrandom association of following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal (R), and limb (L). For clinical diagnosis, presence at least three CFs is required, individuals presenting only two have been categorized as VATER/VACTERL‐like. majority displays a phenotype. Hitherto, variants in FGF8 , FOXF1...
Abstract Neurogenic bladder is caused by disruption of neuronal pathways regulating relaxation and contraction. In severe cases, neurogenic can lead to vesicoureteral reflux, hydroureter, chronic kidney disease. These complications overlap with manifestations congenital anomalies the urinary tract (CAKUT). To identify novel monogenic causes bladder, we applied exome sequencing (ES) our cohort families CAKUT. By ES, have identified a homozygous missense variant (p.Gln184Arg) in CHRM5 (...
Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute most common cause chronic kidney disease in first three decades life. Variants four Forkhead box (FOX) transcription factors have been associated with CAKUT. We hypothesized that other FOX genes, if highly expressed developing kidneys, may also represent monogenic causes
Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human syndromes with features indicate that may be caused by genes. We hypothesized whole exome sequencing (WES) allows identification potential candidate genes (i) generating a list 136 for SB, (ii) unbiased exome-wide analysis. generated from three categories evaluated WES data 50 unrelated cases likely deleterious variants in genes, exome-wide. identified 6 cases,...
Lower urinary tract obstruction (LUTO) is, in most cases, caused by anatomical blockage of the bladder outlet. The common form are posterior urethral valves (PUVs), a male-limited phenotype. Here, we surveyed genome 155 LUTO patients to identify disease-causing CNVs. Raw intensity data were collected for CNVs detected and 4.392 healthy controls using CNVPartition, QuantiSNP PennCNV. Overlapping between discarded. Additional filtering implicated CNV frequency database genomic variants, gene...
Abstract Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute most common cause early‐onset chronic kidney disease. In a previous study, we identified heterozygous truncating variant in nuclear receptor‐interacting protein 1 ( NRIP1 ) as CAKUT causing via dysregulation retinoic acid signaling. This large family remains only with reported so far. Here, describe one additional . By whole‐exome sequencing, frameshift (p.Asn676Lysfs*27) an isolated patient bilateral...
Significance Statement About 40 disease genes have been described to date for isolated CAKUT, the most common cause of CKD during childhood. However, mutations in these explain only 20% cases. The authors performed exome sequencing an international cohort individuals with CAKUT. They identified genetic variants ARHGEF6 (a gene on X chromosome humans that encodes a guanine nucleotide exchange factor) as potential novel this disease. Using multifaceted approach, including cellular and...
Besides visceral heterotaxia, Pkd1l1 null mouse embryos exhibit general edema and perinatal lethality. In humans, congenital chylothorax (CCT) is a frequent cause of fetal hydrops. 2021, Correa colleagues reported ultrarare compound heterozygous variants in PKD1L1 exhibiting two consecutive fetuses with severe hydrops, implicating direct role hydrops formation. Here, we performed an exome survey identified the five case–parent trios CCT. one family, affected carried missense...
Abstract Congenital anomalies of the kidney and urinary tract (CAKUT) are most prevalent cause chronic disease that manifests in children. To date ~23 different monogenic causes have been implicated isolated forms human CAKUT, but vast majority remains elusive. In a previous study, we identified homozygous missense variant E26 transformation‐specific (ETS) Variant Transcription Factor 4 ( ETV4 ) causing CAKUT via dysregulation transcriptional function ETV4, resulting abrogation GDNF/RET/ETV4...
Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, bony pelvis, urinary tract, external genitalia, and, in severe cases, gastrointestinal tract as well. Methods: Herein, we performed an exome analysis case-parent trios with cloacal exstrophy (CE), most form BEEC. Furthermore, surveyed sib-pair presenting classic (CBE) and epispadias (E) only. Moreover, large-scale re-sequencing CBE individuals for novel...
Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) are most common cause chronic disease in first 3 decades life. Over 40 genes have been identified as causative for isolated human CAKUT. However, many remain unknown, prioritization potential CAKUT candidate is challenging. To develop an independent approach to prioritize genes, we hypothesized that monogenic likely co-expressed along a temporal axis during development with coinciding high expression may represent...