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.
#169 Cytogenomics with Phase Genomics
Next generation cytogenomic applications in the reproductive genetics and oncology spaces are explored with Dr. Ivan Liachko and Dr. Stephen Eacker.
#168 Polygenic Risk Scores with Giordano Bottà
Allelica CEO and Co-Founder explains the power of PRS to assess people’s risk of common diseases.
#167 PhenoTips: Future of Cancer Genetics
Dr. Banu Arun and Dr. Mark Robson discuss how to prepare practitioners for the future of cancer genetics in this installment of the PhenoTips Speaker Series.
#166 Beta Thalassemia with Radhika Sawh
A genetic counselor discusses the genetics of beta thalassemia and shares her personal experience with the genetic condition.
#165 Sequencing for Cancer Risk with Sandra Balladares
Scientist and breast cancer survivor explores how to utilize Illumina’s sequencing technology to assess inherited cancer risk.
#164 Parkinson’s Disease with the Parkinson’s Foundation
Representatives from the Parkinson’s Foundation and the Hispanic Parkinson’s Advisory Council explore Parkinson’s disease including diversity in genetic research.
#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome
A mother/advocate and a researcher share their unique insights on Prader-Willi Syndrome.
#162 PhenoTips: Future of Genetic Counseling
Genetic Counselors explore the future of the field in this installment of the PhenoTips Speaker Series.
#161 Phenotips: Digital Tools in Genetic Counseling
Genetic Counselors explore the Adoption and Impact of Digital Tools in Genetic Counseling in this installment of the PhenoTips Speaker Series.
#160 Sura Alwan on Teratogens
Dr. Sura Alwan, the Co-Director of TERIS, The Teratogen Information System, shares her expertise on exposures during pregnancy.
#159 Black Cancer Genes on Breast Cancer
Attorney /Patient Advocate Erika Stallings and Genetic Counselor Dena Goldberg discuss breast cancer in the Black patients.