The power of whole genome sequencing for patients with undiagnosed diseases.
#81 Irina Brooke on BRCA2
Patient advocate shares advice from her genetic testing/counseling and breast cancer journey.
#80 Rafi Mendelsohn on DNA Quest for Adoptees
Biological families reunited through MyHeritage's free DNA testing initiative.
#79 Bibaswan Ghoshal on the Human Microbiome
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.