Melanie Bahlo
A5061764650- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Genetic Associations and Epidemiology
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Gene expression and cancer classification
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Genomics and Phylogenetic Studies
- Malaria Research and Control
- RNA modifications and cancer
- Congenital heart defects research
- Bioinformatics and Genomic Networks
- Hearing, Cochlea, Tinnitus, Genetics
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Neurological diseases and metabolism
- CRISPR and Genetic Engineering
- Retinal Diseases and Treatments
- RNA regulation and disease
- Multiple Sclerosis Research Studies
- Metabolism and Genetic Disorders
- Amyotrophic Lateral Sclerosis Research
- Hemoglobinopathies and Related Disorders
Walter and Eliza Hall Institute of Medical Research
2016-2025
The University of Melbourne
2016-2025
Australian Genome Research Facility
2024
Children's Medical Research Institute
2024
Google (United States)
2023
Royal Children's Hospital
2013-2022
The George Institute for Global Health
2022
Murdoch Children's Research Institute
2015-2022
Freie Universität Berlin
2022
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
2022
Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation. Diseases related to iron overload develop in some C282Y homozygotes, but extent risk is controversial.We assessed mutations 31,192 northern European descent between ages 40 69 years participated Melbourne Collaborative Cohort Study were followed an average 12 years. In a random sample 1438 subjects stratified...
We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL). Two peaks maximum LOD scores of 3.07 2.97 were found on chromosomes 7 17, respectively. Unexpectedly, we these to be homozygous for c.813_816del (p.Thr272Serfs∗10) mutation the progranulin gene (GRN, granulin precursor) latter peak. Heterozygous mutations GRN are major cause frontotemporal lobar degeneration TDP-43 inclusions (FTLD-TDP), second most...
The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report genome-wide mega-analysis involving 15,212 individuals with epilepsy 29,677 controls, which reveals 16 significant loci, of 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely genes at these majority in genetic generalized epilepsies. These diverse biological functions, including coding for ion-channel subunits, transcription factors...
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded sequences in NGS data. We performed genetic studies cohort 35 individuals from 22 families with diagnosis cerebellar ataxia neuropathy bilateral vestibular...
Identifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia type 2, is challenging. A link between 2 and altered serine metabolism has been established previously.Through exome sequence analysis a patient his family members, we identified variant in SPTLC1 encoding subunit palmitoyltransferase (SPT). Because mutations affecting SPT are known to cause hereditary sensory autonomic neuropathy 1 (HSAN1), examined 10 additional persons HSAN1 for...
Background: The commercially available 10x Genomics protocol to generate droplet-based single-cell RNA-seq (scRNA-seq) data is enjoying growing popularity among researchers. Fundamental the analysis of such scRNA-seq ability cluster similar or same cells into non-overlapping groups. Many competing methods have been proposed for this task, but there currently little guidance with regards which method use. Methods: Here we use one gold standard dataset, generated from mixture three cell lines,...
Abstract The human genetic factors that affect resistance to infectious disease are poorly understood. Here we report a genome-wide association study in 17,000 severe malaria cases and population controls from 11 countries, informed by sequencing of family trios direct typing candidate loci an additional 15,000 samples. We identify five replicable associations with levels evidence including newly implicated variant on chromosome 6. Jointly, these variants account for around one-tenth the...
<ns4:p><ns4:bold>Background:</ns4:bold> The commercially available 10x Genomics protocol to generate droplet-based single cell RNA-seq (scRNA-seq) data is enjoying growing popularity among researchers. Fundamental the analysis of such scRNA-seq ability cluster similar or same cells into non-overlapping groups. Many competing methods have been proposed for this task, but there currently little guidance with regards which method use.</ns4:p><ns4:p> <ns4:bold>Methods:</ns4:bold> Here we use one...
Abstract Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat remain to be discovered. Existing methods detecting in short-read sequencing data require predefined catalogs. Recent discoveries emphasize the need that do not pre-specified candidate repeats. To address this need, we introduce ExpansionHunter Denovo, an efficient catalog-free method genome-wide expansion detection. Analysis of real simulated shows our can identify large 41 out...
Abstract Objective “How many epilepsy genes are there?” is a frequently asked question. We sought to (1) provide curated list of that cause monogenic epilepsies, and (2) compare contrast gene panels from multiple sources. Methods compared included on the (as July 29, 2022) four clinical diagnostic providers: Invitae, GeneDx, Fulgent Genetics, Blueprint Genetics; two research resources: PanelApp Australia ClinGen. A master all unique was supplemented by additional identified via PubMed...
BackgroundDetection of anaemia is crucial for clinical medicine and public health. Current WHO definitions are based on statistical thresholds (fifth centiles) set more than 50 years ago. We sought to establish evidence the haemoglobin that can be applied globally inform guidelines.MethodsIn this analysis we identified international data sources from populations in USA, England, Australia, China, Netherlands, Canada, Ecuador, Bangladesh with sufficient laboratory information collected...
The Tasmanian devil, a marsupial carnivore, is endangered because of the emergence transmissible cancer known as devil facial tumor disease (DFTD). This fatal clonally derived and an allograft transmitted between devils by biting. We performed large-scale genetic analysis DFTD with microsatellite genotyping, mitochondrial genome analysis, deep sequencing transcriptome microRNAs. These studies confirm that monophyletic suggest Schwann cell origin. On basis these results, we have generated...