Genetic variants define a gene that has encountered a permanent change in its DNA sequence. Some, but not all, genetic variants result in a disease. Genetic variants can be inherited or can develop overtime.
The therapeutic applications of medical cannabis and cannabinoid drugs is controversial, however the number of medical conditions in which cannabinoids and cannabis have shown promise as ther...
When the human genome was sequenced almost 15 years ago, it was a milestone for the understanding of an individual’s genome. However to fully understand a disease, millions of ind...
With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
Precision medicine based on molecular profiling is moving from the realm of clinical utility studies towards standard of care. There remain, however, significant technological and implementat...
I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
As the costs of genomic analysis decline it becomes possible to offer widescale population genomic analysis to screen for genetic disorders. The Alabama Genomic Health Initiative was es...
Structural variants (SVs), defined as rearrangements of genomic sequences, are both a major source of genetic diversity in human populations and are also directly responsible for the pathogen...
Our understanding of how genotype controls phenotype is limited by the scale at which we can precisely alter the genome and assess the phenotypic consequences of each perturbation. In this pr...
In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers. Data from next generatio...
Complex disease phenotypes - obesity, type II diabetes, and cancer challenge simple models in both evolution and biology. Examination of molecular networks and their dynamic behavior o...
This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
One would think that getting the diagnosis after fifteen years would end the journey. How does your work at the bench affect patients and how can you change lives through cell therapy? ...
The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
The integration of next-generation sequencing (NGS) tests into clinical laboratory practice across medical disciplines provides medically actionable data that in some cases are not otherwise...
DATE: November 6, 2017TIME: 08:00am PST, 11:00pm EST, 5:00pm CET Set-up of a PGS platform: the Swiss experienceDr. Murisier’s lab investigated the different technical...
DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
DATE: June 28, 2017TIME: 10:30am PT, 1:30pm ETThis webinar will describe the implementation of the Oncomine Lung cfDNA Assay from Thermo Fisher Scientific in the Advanced Molecular...
DATE: June 27, 2017TIME: 8:00am PT, 11:00am ETThe purpose of this study is to identify genetic variants that influence cellular responses, and patterns of M.tb infection and growth in h...
DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of the...
DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
DATE: April 25, 2017TIME: 10:00am PT, 1:00pm ETImmunotherapy has emerged as one of the most promising options for the future treatment of a growing number of cancers and is to...
The therapeutic applications of medical cannabis and cannabinoid drugs is controversial, however the number of medical conditions in which cannabinoids and cannabis have shown promise as ther...
When the human genome was sequenced almost 15 years ago, it was a milestone for the understanding of an individual’s genome. However to fully understand a disease, millions of ind...
With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
Precision medicine based on molecular profiling is moving from the realm of clinical utility studies towards standard of care. There remain, however, significant technological and implementat...
I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
As the costs of genomic analysis decline it becomes possible to offer widescale population genomic analysis to screen for genetic disorders. The Alabama Genomic Health Initiative was es...
Structural variants (SVs), defined as rearrangements of genomic sequences, are both a major source of genetic diversity in human populations and are also directly responsible for the pathogen...
Our understanding of how genotype controls phenotype is limited by the scale at which we can precisely alter the genome and assess the phenotypic consequences of each perturbation. In this pr...
In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers. Data from next generatio...
Complex disease phenotypes - obesity, type II diabetes, and cancer challenge simple models in both evolution and biology. Examination of molecular networks and their dynamic behavior o...
This presentation illustrates the features of QIAGEN sample to insight approach, and how it combines a powerful chemistry based on unique molecular indexes (UMIs) and a UMI-aware bioinformati...
One would think that getting the diagnosis after fifteen years would end the journey. How does your work at the bench affect patients and how can you change lives through cell therapy? ...
The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
The integration of next-generation sequencing (NGS) tests into clinical laboratory practice across medical disciplines provides medically actionable data that in some cases are not otherwise...
DATE: November 6, 2017TIME: 08:00am PST, 11:00pm EST, 5:00pm CET Set-up of a PGS platform: the Swiss experienceDr. Murisier’s lab investigated the different technical...
DATE: November 2, 2017TIME: 10:00am PDT, 1:00pm EDTA CRISPR Way of Making MiceThe bulk of genetic variation associated with human disease exists in the noncoding genome, much of whi...
Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
DATE: June 28, 2017TIME: 10:30am PT, 1:30pm ETThis webinar will describe the implementation of the Oncomine Lung cfDNA Assay from Thermo Fisher Scientific in the Advanced Molecular...
DATE: June 27, 2017TIME: 8:00am PT, 11:00am ETThe purpose of this study is to identify genetic variants that influence cellular responses, and patterns of M.tb infection and growth in h...
DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of the...
DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
DATE: April 25, 2017TIME: 10:00am PT, 1:00pm ETImmunotherapy has emerged as one of the most promising options for the future treatment of a growing number of cancers and is to...
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