Phenotips CEO, Dr. Orion Buske, and genetics workflow consultant, Erica Peacock, discuss building inclusive pedigrees in honor of Pride month!
#188 Propionic and Methylmalonic Acidemia with HemoShear Therapeutics
Patient advocate, Bryan Kelly, & HemoShear CMO, Dr. Pat Horn, discuss life with Proprionic and Methylmalonic Acidemia and an investigational therapy.
#187 Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh
The fascinating genetics of FSHD is discussed including diagnosis through whole genome optical mapping.
#186 n-Lorem: Nano-Rare Diseases with Luke Rosen and Wendy Chung
First episode of the N-Lorem Foundations’ “Patient Empowerment Program” features an actor turned patient advocate and a pediatric geneticist.
#185 Nutrigenomics with Yael Joffe
“The Power of Genetics” Podcast Host and Founder/CSO of 3X4 Genetics Yael Joffe shares her expertise on nutrigenomics.
#184 Inherited Retinal Degeneration with Blueprint Genetics
For Vision Health Month and Blindness Awareness Month, we are exploring inherited retinal degeneration with Khalida Liaquat and Ariana Lichtenstein.
#183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium
Telomere to Telomere Consortium (T2T) co-founders discuss their experience using T2T to complete the human genome sequence.
#182 Eric Green on the Complete Human Genome Project
NIH’s NHGRI’s Director discusses the newly completed Human Genome and reflects on the past and future for genomics.
#181 DNA Experiments with Stephanie Ryan
Learn how to extract DNA from fruit to celebrate DNA Day.
#180 Reproductive DNA Testing with Mitera
Chief Medical Officer of Mitera, Dr. Kathy Salari, discusses reproductive genetic testing including non-invasive prenatal screening and carrier screening.
#179 Genetic Testing with Kira Dineen
James Fodor of The Science of Everything Podcast interviews Kira Dineen about the ins and outs of genetic testing.
#178 Single-Cell Spatial Genomics with Vizgen
Dr. George Emanuel explains a new assay to analyze genomic information of single cells combining spatial transcriptomics with single-cell sequencing.
#177 Whole Genome Sequencing with PerkinElmer Genomics
Dr. Madhuri Hegde of PerkinElmer Genomics explores whole genome sequencing
#176 Glee's Lauren Potter on Down Syndrome Awareness
Lauren Potter (aka Becky Jackson from Fox’s hit TV show Glee) discusses Down Syndrome awareness and advocacy.
#175 Hereditary Cancer Variant Network with Brian Shirts
Dr. Brian Shirts discusses ConnectMyVariant and the importance of connecting individuals with the same cancer variants.
#174 Pharmacogenomics with Fulgent Genetics
Gregory Kellogg, Director of Genetic Counseling at Fulgent Genetics explores pharmacogenomics.
#173 GRIN1 with Keith McArthur
Keith McArthur shares about his son Bryson’s GRIN1 rare disease diagnosis and his family's experience connecting with others in the community.
#172 PhenoTips: Advances in Rare Disease Diagnosis
Drs. Stephen Kingsmore, Marshall Summar, and Ellen Thomas join Dr. Pawel Buczkowicz to discuss the diagnostic odyssey in this installment of the PhenoTips Speaker Series.
#171 Farber Disease with Aceragen
In honor of Rare Disease Month we explore Farber Disease with Dr. Alex Solyom and Katie Crosby of Aceragen.
#170 Mitochondrial Disorders with Alejandro Dorenbaum
Investigational therapies for primary mitochondrial myopathy are discussed with Dr. Alejandro Dorenbaum in honor of rare disease month.