Aidin Foroutan
A5002861360- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Metabolomics and Mass Spectrometry Studies
- Cancer-related gene regulation
- Genetic and phenotypic traits in livestock
- Chemical Reactions and Isotopes
- Acute Myeloid Leukemia Research
- Genetic Syndromes and Imprinting
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Neurogenetic and Muscular Disorders Research
- Plant pathogens and resistance mechanisms
- Plant Pathogens and Fungal Diseases
- Ruminant Nutrition and Digestive Physiology
- Reproductive Physiology in Livestock
- Colorectal Cancer Treatments and Studies
- CRISPR and Genetic Engineering
- Architecture, Design, and Social History
- Birth, Development, and Health
- Traditional Chinese Medicine Studies
- Fatty Acid Research and Health
- Telomeres, Telomerase, and Senescence
- Adipose Tissue and Metabolism
Children’s Health Research Institute
2022-2024
Western University
2021-2024
London Health Sciences Centre
2021-2023
University of Alberta
2019-2020
Bovine milk is a nutritionally rich, chemically complex biofluid consisting of hundreds different components. While the chemical composition cow's has been studied for decades, much this information fragmentary and very dated. In an effort to consolidate update information, we have applied modern, quantitative metabolomics techniques along with computer-aided literature mining obtain most comprehensive up-to-date characterization constituents in commercial milk. Using nuclear magnetic...
Overlapping clinical phenotypes and an expanding breadth complexity of genomic associations are a growing challenge in the diagnosis management Mendelian disorders. The functional consequences impacts variation may involve unique, disorder-specific, DNA methylation episignatures. In this study, we describe 19 novel episignature disorders compare findings alongside 38 previously established episignatures for total 57 associated with 65 genetic syndromes. We demonstrate increasing resolution...
From an animal health perspective, relatively little is known about the typical or healthy ranges of concentrations for many metabolites in bovine biofluids and tissues. Here, we describe results a comprehensive, quantitative metabolomic characterization six tissues, including serum, ruminal fluid, liver, Longissimus thoracis (LT) muscle, semimembranosus (SM) testis Using nuclear magnetic resonance (NMR) spectroscopy, liquid chromatography–tandem mass spectrometry (LC–MS/MS), inductively...
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures distinct, highly sensitive, and specific biomarkers that have recently been applied clinical diagnosis syndromes. contained within the broader disorder-specific changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment comparison overlapping changes related 65 with...
Abstract Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in ZFHX3 as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known ATBF1, is zinc-finger homeodomain transcription factor involved multiple biological processes including cell differentiation tumorigenesis. Through international collaboration, collected clinical morphometric data (Face2Gene) 41 individuals with...
PurposeThis study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants.MethodsIndividuals protein altering variants in were identified through exome and genome sequencing international data sharing. Deep clinical phenotyping was undertaken by referring clinicians. Blood DNA methylation assessed using Infinium MethylationEPIC array. The expression pattern developing human brain defined RNAscope.ResultsWe reported 38 new patients variants....
Residual feed intake (RFI) is a efficiency measure commonly used in the livestock industry to identify animals that efficiently/inefficiently convert into meat or body mass. Selection for low-residual (LRFI), efficient animals, gaining popularity among beef producers due fact LRFI cattle eat less and produce methane per unit weight gain. RFI difficult time-consuming perform, therefore simple blood test could distinguish high-RFI (HRFI) from (early on) would potentially benefit farmers terms...
Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysine methyltransferase 2B (KMT2B), encoding histone H3 methyltransferase, have been associated with childhood-onset, progressive complex form of dystonia (dystonia 28, DYT28). Since 2016, more than one hundred rare KMT2B reported, including frameshift, nonsense, splice...
Wiedemann-Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive mild unusual WDSTS presentations variable ID (mild to severe), (typical or not) other malformations (bone, cerebral, renal, cardiac ophthalmological anomalies). Interpretation classification of rare challenging. A genome-wide DNA...
Personalized targeted therapies have transformed management of several solid tumors. Timely and accurate detection clinically relevant genetic variants in tumor is central to the implementation molecular therapies. To facilitate precise testing tumors, next-generation sequencing (NGS) assays emerged as a valuable tool. In this study, we provide an overview technical validation, diagnostic yields, spectrum observed 3,164 samples that were tested part standard clinical assessment academic...
Pathogenic fungi cause significant yield losses and quality reductions to many crops including canola, wheat, barley. Toxic metabolites produced by fungal pathogens, along with excessive application of synthetic fungicides, can also pose risks human livestock health. Hydroxy unsaturated fatty acids (HUFAs) are novel alternatives commonly used fungicides. Here, the antifungal activities two HUFAs, coriolic acid (CA) ricinoleic (RA), were assessed in vitro planta for their activity against...
Several disease risk variants reside on non-coding regions of DNA, particularly in open chromatin specific cell types. Identifying the types relevant to complex traits through integration accessibility data and genome-wide association studies (GWAS) can help elucidate mechanisms these traits. In this study, we created a collection associations between combinations (bulk single-cell) with an array 201 phenotypes. We integrated GWAS phenotypes bulk from 137 measured by DNase-I hypersensitive...
Background: Since the identification of JAK2 V617F and exon 12 mutations as driver in polycythemia vera (PV) 2005, molecular testing these for patients with erythrocytosis has become a routine clinical practice. However, incidence myeloid other than common mutation unselected referred elevated hemoglobin is not well studied. This study aimed to characterize mutational landscape real-world population using targeted next-generation sequencing (NGS)-based assay. Method: A total 529 (hemoglobin...