Rare Disease advocate and caregiver shares on the resources she has created.
All in Interview
#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)
#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.
#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.
#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.
#59 Scott Weissman on Genetic Counseling Private Practice
Discuss the subfields of genetic counseling cardiogenetics, hereditary cancer genetics, direct-to-consumer tests and carrier screening.
#58 Joanne Kamens on Gender Equality in Science
Dr. Joanne Kamens discusses gender equality in work environments, specifically in scientific fields and finding different careers in science through networking.
#56 Brianne Kirkpatrick on Ancestry Genetic Testing
Entrepreneur/genetic counselor discusses the importance of family health history awareness month, ancestry DNA testing and other direct-to-consumer genetic tests.
#55 Sharon Begley on CRISPR, a BRCA Event
A science communicator of 40 years, Sharon Begley, shares her insight on CRISPR’s impact on advances in research. Event about the environmental factor of breast cancer is reviewed.
#53 Ginger Nichols on MotherToBaby
Genetic counselor, Ginger Nichols, shares about what the MotherToBaby service offers and other information for pregnant and nursing women.
#52 Charcot Marie Tooth Interview
Patient advocates Bernadette Scarduzio and Allison Moore share about CMT, their documentary and the Hereditary Neuropathy Foundation.
#51 Nevena Hristozova on Stress Proteins in Plants
Nevena Hristozova joins me on the show all the way from Brussels! We discuss her research with chaperones - stress related proteins, in plants under unfavorable environmental conditions.