Close Menu
February 26, 2020
Sponsored by
Autogen

Transformation of the Lab to Fight Genetic Illnesses in the Amish and Mennonite Populations

GenomeWebinar

Lab Director, Clinic for Special Children

 

Senior Vice President, AutoGen

This webinar will explain how the Clinic for Special Children in Strasburg, Pennsylvania, has transformed its DNA workflows to improve the diagnosis and treatment of genetic illnesses that are prevalent in the pediatric population of its community.

Dr. Erik Puffenberger, lab director at the clinic, will discuss how the organization improved its genetic workflows in order to give patients the best care possible and provide better outcomes for families. Dr. Puffenberger will share details of how the clinic, as a small, specialized organization, balances the desire to adopt new technologies with the realities of working with a limited budget.

One of the many diseases the clinic diagnoses and treats is spinal muscular atrophy (SMA). The occurrence of SMA is much higher within the community the clinic serves, comprising Amish and Mennonite populations, than in the general population. This webinar will highlight how the clinic has evolved its DNA workflows to improve clinical outcomes for SMA and other diseases.

Dr. Puffenberger will detail the DNA extraction technologies that have allowed the clinic to improve its workflows and will also discuss the promise of cell-free DNA for non-invasive prenatal diagnosis and treatment.

Webinar participants will learn about the following areas:

  • How to optimize the workflow in a clinical environment to diagnose and treat genetic illnesses
  • Which sample types provide the best chances for a positive clinical outcome
  • New ways automation enables non-invasive prenatal diagnosis and treatment
Sponsored by

The Washington Post reports on researchers' efforts to determine the effect of an increasingly common SARS-CoV-2 mutation.

Florida Politics reports Florida's law barring life, long-term care, and disability insurers from using genetic information in coverage decisions went into effect at the beginning of July.

A new analysis finds a link between popular media coverage of a scientific study and how often that paper is cited.

In Nature this week: CRISPR approaches to editing plant genomes, way to speed up DNA-PAINT, and more.

Jul
16
Sponsored by
NanoString

Join this webinar to learn how spatial resolution of gene expression in tumor tissue reveals new insights in biomarker discovery and therapeutic response. 

Jul
23
Sponsored by
Roche

This webinar will discuss a study that set to assess the efficacy and safety of osimertinib in EGFR T790M positive non-small cell lung cancer (NSCLC) patients identified by using plasma sample and cobas EGFR Mutation test v2. This is the first prospective study to use liquid biopsy upfront to evaluate osimertinib efficacy.

Jul
29
Sponsored by
Illumina

“If we build it, they will come” is a familiar refrain that echoes in life science entrepreneurial circles. Too frequently startups believe that if a technology is built it will sell.

Aug
25
Sponsored by
Roche

Non-small cell lung cancer (NSCLC) patients with ALK rearrangements are treated with tyrosine kinase inhibitors (TKIs), which often leads to prolonged overall survival. However, treatment resistance will almost inevitably occur, and the disease remains incurable.