How bioinformatics help us learn about the human microbiome
#78 Pawel Buczkowicz on Gene42
Smart software revolutionizing how medicine is practiced.
#77 Rare Disease Day 2018
Recap of CT’s event and interviews with Angelman Syndrome and ALD patient advocates
#76 Amy Sturm on Cardiac Genetic Counseling
Discuss red flags for inherited cardiovascular disease, genetic cascade screening, prevention/risk reduction and notifying at-risk relatives of patients.
#75 Eden Lord on My City Med
Rare Disease advocate and caregiver shares on the resources she has created.
#74 Antonio Maltese on Huntington's Disease
Patient Advocate shares his pre-symptomatically genetically diagnosis and the latest breakthrough in research
#73 Jenna Guiltinan on Laboratory Genetic Counseling
Discuss classification of genetic variants including Variants of Unknown Significance (VUS)
#72 Megan Maxwell on Genomes2People
The Genetic Counselor Project Manager for The MilSeq Project shares on the research.
#71 Eleanor Griffith on Genetic Counseling Grad School Applications
A member of Sarah Lawrence’s genetic counseling admission committee offers advice for applicants.
#70 Heather Z on Cowden Syndrome
Patient advocate shares about her two rare brain tumors and hereditary cancer syndrome.
#69 Jackson Lab's Forum on Healthcare Innovation
Highlights from Jackson Lab’s Forum on Healthcare Innovation about genetic testing/genomics, microbiome and the new "All of Us" program.
#67 Daniel DeFabio on Disorder: The Rare Disease Film Festival
Daniel speaks about the films to be screened at the festival and the film he produced about his son's rare disease, Menkes Disease.
#66 Dr. Susan Capasso on Genetic Counseling
Her personal journey to become a genetic counselor and advice for students.
#65 CRISPRed Imprinting Disorders
Highlights from UCONN's "The Impact of CRISPR on Imprinting Disorders" conference, including an interview with CRISPR researcher, Chris Stoddard.
#64 Dan Faszczyk on Kolgene
Co-Founder/CEO of Kolgene explains the platform connecting clinicians with genetic labs around the world. His company streamlines the process of looking for labs, communicating with them and ordering the tests.
#63 Rare Disease Day 2017
NORD's event in Hartford is recapped including interviews with a patient advocate, Michelle Cotton, and a Connecticut representative, Dave W. Yaccarino.
#62 Cytogenetics Basics
A Clinical Cytogeneticist talks about the field of cytogenetics which studies chromosomes.
#61 Wes Wilson on Tumor Progression Epigenetics
Discussion on the epigenetics of tumor progression in pediatric cancer, how it differs between types of cancer, and using it to diagnosis and alter treatments.
#60 Dan Donovan on Onevoice
Co-Founder/CEO of Onevoice shares how his new community building software solution supports the rare disease community.