Discover How Genomic Research Is Revolutionizing Health Care for Our Future

Can we study rare and inherited diseases more efficiently? How can genomic research help us solve the mysteries behind common complex diseases? Is it possible to better understand the global host response to a new virus? Today’s research can help provide answers that offer the possibility of a better tomorrow. Connect with Thermo Fisher Scientific at ASHG 2021 to learn about tools, techniques, and innovations that can help you drive the future of health care research.

SARS-CoV-2 RNAemia predicts clinical deterioration and extrapulmonary complications from COVID-19

Nikhil Ram Mohan, PhD
Stanford University School of Medicine

RNAemia, or a low viral RNA titer in the bloodstream, is associated with more severe illness after SARS-CoV-2 infection. Being able to identify individuals who are likely to become severely ill with SARS-CoV-2 could help clinicians achieve better outcomes for these patients. Determining the threshold cycle (C_t) in a quantitative PCR (qPCR) assay for SARS-CoV-2 detection is an indirect way to measure viral load. However, blood contains inhibitors that can reduce qPCR efficiency, and high C_t values are observed with plasma when viral titers are low. The C_t is not a reliable metric for determining SARS-CoV-2 RNA titer, and it is likely that RNAemia is under-detected. In this talk, Dr. Mohan will discuss:

• The characteristics of a triplex digital PCR (dPCR) assay designed for accurate SARS-CoV-2 RNA quantitation
• The dPCR assay workflow
• Use of the dPCR assay to identify RNAemia in patients infected with SARS-CoV-2
• The correlation between SARS-CoV-2 RNA load and the severity of illness
• The dynamics of RNAemia and clinical progression of SARS-CoV-2 infection
• Extrapulmonary complications in patients with and without SARS-CoV-2 RNAemia
• The predictive value of RNAemia for clinicians

Visit the ASHG home page to watch the full talk.

Pharmacogenomics to accelerate personalized therapies and reduce health disparities: current concepts and future directions

Ulrich Broeckel, MD
Founder and CEO of RPRD Diagnostics

Health disparities among racial and ethnic minorities in the United States have led to higher rates of chronic disease and premature death in these populations. Additionally, these groups have historically been underrepresented in clinical trials. Patients may be given incorrect doses of effective drugs or treated with ineffective drugs if they are not tested for relevant genetic markers and rare alleles. In this talk, Dr. Broeckel will discuss:

• The importance of allelic variation in pharmacogenetic (PGx) test selection, correct interpretation of results, and development of effective treatment strategies
• The benefits of testing for appropriate genetic markers and including rare alleles in PGx assays
• Variations in the frequency of rare alleles that affect major drug metabolism pathways
• The role of genetic variation in disease development, pharmacokinetics, and pharmacodynamic response
• The contribution of multiple genes and gene variants to drug response and toxicity
• Shifting the focus of PGx testing from individual genes to multiple genes
• Applying the PGx approach to prevent prescription of ineffective drugs, inappropriate dosing, and detrimental drug interactions
• Actionable pharmacogenetic variants (alleles) with dosing guidelines for FDA-approved medications
• Focusing research on understudied populations to advance the PGx field

Visit the ASHG home page to watch the full talk.

Modeling and treatment of tandem duplications in rare inherited disorders

Eleonora Maino, PhD Candidate
The Hospital for Sick Children

MECP2 duplication syndrome is a severe neurological and developmental disorder caused by tandem duplications of the MECP2 and IRAK1 genes. Symptoms include poor muscle tone (hypotonia) in infancy, developmental delay, severe intellectual disability, progressive spasticity, recurrent respiratory infections, and seizures. Individuals with MECP2 duplication syndrome die prematurely, and no curative treatment is available. Targeted genome editing with CRISPR-Cas9 and a single guide RNA (sgRNA) in vivo has been shown to correct dystrophin (DMD) gene duplications that cause Duchenne muscular dystrophy, and restore wild type dystrophin expression in a mouse model. In this talk, Ms. Maino will discuss:

• A novel proximity-based CRISPR-Cas9 approach to generate models of MECP2 duplication mutations and disease phenotypes in mice
• Extending the targeted CRISPR-Cas9 gene editing strategy to treat MECP2 duplication syndrome in vivo, through localized administration of CRISPR-Cas9 and sgRNA using an adeno-associated viral (AAV) vector
• Employing the sgRNA strategy as a universal approach to correct tandem duplications that cause rare inherited disorders

Visit the ASHG home page to watch the full talk.