I sit down with Sara Kavanaugh, Lynch Syndrome patient, part of Lynch Syndrome Awareness non profit, and Connect My Variant.  Sara is the overachiever in so many ways, including voiceover work, and being host of the Positive Gene Podcast.  We talk about potential solutions to getting the word out about Lynch Syndrome, positivity, and Nashville hot chicken.      

I sit down with Hanna Lombardi, lynch syndrome patient at Dana Farber Cancer Institute, mom of 3, who is also running the Boston Marathon to raise Lyncgh Syndreome awareness.  Come for the Lynch Syndrome story, enjoy a donut or two, and stay for the guest appearance.  Then go for a jog.    

I sit down with Stefania Alastre as we discuss her role as Genetic Counselor at the Moffitt Cancer Center, as well as Assistant Professor at the University of South Florida genetic counseling program, and her role as Certified Medical Translator.  We also talk about worm cloning, soccer and the X-Men.  Enjoy!

I sit down with Dr Mev Dominguez, Project Group Leader Inherited and Familial Cancer at the University of Oslo and Director of the Predi Lynch Project.  Starting in May 2025, lasting for 6 years, there are 28 partners from 16 European countries acting and working together.  Liquid biopsy every year, urine, MSI plus, vaginal swabs, and stool samples will be compiled over 27 clinical centers.  Important factors include social and financial acceptability.  Open for lynch syndrome patients over age 35 but no cancer for the last year.  A biobank will be created, and analysis will be done using AI.  Everything should be followed via the Predi-lynch.edu web site.  

I sit down with Laura Schneebaum, licensed mental health counselor and therapist, working with us in the hereditary cancer space.  Besides the NYU linkage, we had a lot in common.  We talk about trauma informed care and the quote "An abnormal reaction to an abnormal situation is normal."  Laura liked my term that it gets easier, but it never gets easier.    

I sit down with Richard Wu, Lynch Syndrome patient and runner in the TCS New York City Marathon.  Richard didn't know about his Lynch Syndrome but was experiencing unexplained fevers, especially on trips.  At 38, he was surprised to hear of his colon cancer.  The immunotherapy not only cured his cancer without surgery, but seemingly the fevers have ended as well.  Richard is on baby aspirin moving forward and so far so good.  We look forward to cheering Richard at the NYC Marathon this weekend and a link to his page will be attached.  https://aliveandkickn.salsalabs.org/2025tcsnycmarathon/p/richardwu/index.html

I sit down with Dr Yvonne Bombard, scientist focusing on improving access to genetic testing for personalized medicine, at Unity Health in Toronto, as well as being founder and CEO of The Genetics Advisor.  Dr Bombard is a problem solver at heart, always looking for ways to clear access for others.  Genetics Advisor, which has been around for many years, is meant to augment and/or support genetic counseling.  People using the tool have significantly high levels of knowledge, even compared with clinician driven sessions.  Studies also show it saves provider consult time by having the patients being empowered and part of the process in the journey.  We also get into the subject of ethnicity and ancestral background and relevance for interpretation, even touching on newborn screening and communicating with non-human species.   

I sit down with Dr Magali Svrcek, Professor of Pathology at the University of Sorbonne in Paris, and she discusses her role as a GI Pathologist.  Dr Svrcek discusses Microsatellite Instability, digital tools and Immunohistochemistry.  Dr Svrcek wrote her script in English, so I in turn wrote my introduction and closing en Francais.  I hope my French is ok.  With fewer Pathologists, especially internationally, digital pathology could be a solution.  In working with Owkin, the collaboration, MsIntuit, an AI diagnostic tool to detect MSI, and is the first to be CE marked.   Colorectal cancer is experiencing an increase internationally as western lifestyle spreads.  African countries, especially sub-Saharan African countries will not have the tools or infrastructure to work with this increase.  Developing a network of experts using digital pathology could mitigate some of these issues.  

I sit down with Dr Luis Diaz Jr, physican scientist at Memorial Sloan Kettering, and we share some history of mismatch repair, lynch syndrome and the evolution.  Of course we talked about the primary rectal cancer study where they showed immunotherapy was curative for MMR/MSI High tumors.  A second study for multiple cancer locations had 85% response rate and 40% had no side effects.  Shout out of course to Dr Zsofia Stadler, my oncologist, working on another study of patients treated with immunotherapy, and if further cancers can be prevented.  The future may be the Lynch Syndrome vaccine, but does the future also include immunotherapy before cancer for lynch syndrome patients?  How about trying to turn non-lynch tumors into lynch (like) tumors so they can be treated with immunotherapy?  Dr Diaz hopes other researchers can be bold moving forward, and that someday, this is all routine and these stories are no longer news.  

I sit down with Dr Aparajita Singh, Gastroenterologist and Director of the Lynch Syndrome Center at UCSF, where it truly is a team effort taking care of Lynch Syndrome patients.  Aside from me mispronouncing Lynch Syndrome, it was a wonderful engaging conversation.  UCSF Lynch Syndrome Center should have the links to everything discussed, which was a lot.  Check it out.