#276 Targeted DNA Methylation Sequencing with Wasatch BioLabs
In this episode, we're diving deep into the realm of targeted DNA methylation sequencing, a cutting-edge technology with vast implications for clinical diagnostics and research. Joining us are Chad Po...
16 Helmi 202432min
#275 ALS Genetics with Dr. Patrick Short
In this episode we're delving into the intricate landscape of ALS (Amyotrophic Lateral Sclerosis), commonly known as Lou Gehrig's disease. Returning to the show is Dr. Patrick Short, CEO and Co-Founde...
9 Helmi 202433min
#274 Wolfram Syndrome with Stephanie Snow Gebel
Happy Rare Disease Month! Did you know why February was chosen? It's because it harbors the rarest day of the year, February 29th, which coincides with Rare Disease Day. To kick off this special month...
2 Helmi 202439min
#273 ENPP1 Deficiency Disorders with Inozyme
As we delve into the intricacies of ENPP1 Deficiency Disorders, Dr. Yves Sabbagh and Christine O’Brien provide invaluable insights into genetics, diagnostics, treatment, and collaborative efforts betw...
26 Tammi 202434min
#272 Clinical Trials for One Patient with Dr. Joe Gleeson
This episode was originally released on the Patient Empowerment Program podcast, where our host Kira Dineen serves as a Producer. Sometimes you might even hear Kira’s voice in promos and ads. In th...
19 Tammi 202425min
#271 Genetic Optic Neuropathies with Dr. Andrew Carey
This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes you might even hear Kira join as a guest host especia...
12 Tammi 202455min
#270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg
In this episode we dive deep into two crucial reproductive genetic topics with the knowledgeable and experienced genetic counselor, Kelly Loggenberg. Joining us from Next Biosciences, a Female-led Sou...
5 Tammi 202431min
#269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci
Can computers diagnose genetic conditions? Could we train computers to analyze photos of people to help geneticists and other healthcare providers diagnose conditions based on physical features? Jo...
29 Joulu 202333min
