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Epigenetics and Beyond: Dr. John Greally's Journey

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In this special episode, Kristina Inman, a recent graduate of Sarah Lawrence College's genetic counseling program, interviews Dr. John Greally, a leading figure in the field of genetics and pediatrics. Kristina Inman delves into Dr. Greally’s groundbreaking work and personal journey.
Dr. John Greally, is the director of the Center for Epigenomics, Professor of Genetics and Pediatrics, and Chief of Division of Computational Genetics at the Albert Einstein College of Medicine and the Children's Hospital at Montefiore in the Bronx.. He is also co-directing the new NORD Center of Excellence, the NY Center for Rare Diseases, with Dr. Melissa Wasserstein.
Episode Highlights:
Introductions:
Overview of Dr. Greally’s professional background and the new initiatives he's leading, including the NY Center for Rare Diseases.
The connection through guest host Kristina Inman’s graduate thesis work and the relevance of genetic counseling in their lives.
Professional Work:
An in-depth look at the NY Center for Rare Diseases and its mission.
Discussing the critical issues of genomic privacy and health equity in genomics.
Exploring Genomic Tech/GenomeDiver and their impact on the field.
Personal Journey:
Dr. Greally shares his research background and the inspiration behind his upcoming book on epigenetics.
His thoughts on the portrayal of epigenetics in the media and the focus on functional non-coding variants (fNCVs) in his current research.
Explanation of terms like “regulatory landscape” and “molecular quantitative trait loci (molQTL)” at an accessible level.
Exciting collaboration with Google Research and Deep Mind to develop a machine learning model for identifying fNCVs.
Dr. Greally's personal experience with his diagnosis, the emotions involved, and how it influenced his professional perspective.
Patient Care:
The impact of Dr. Greally’s personal experience on his approach to patient care and his connection to families with congenital conditions.
The implications of receiving a variant of uncertain significance (VUS) in genetic testing and its potential impact on patients.
Reflection & Advice:
Dr. Greally reflects on his journey, lessons on resilience, the importance of genetic testing, and the potential benefits of universal genetic screening.
Advice for patients dealing with similar conditions and for young professionals entering the field of genetics and genetic counseling.
Future Work:
Insights into Dr. Greally’s future plans, upcoming projects, and areas of excitement in his work.
Resources for listeners who want to learn more about Dr. Greally’s research and initiatives.
Check out Dr. Greally’s lab and follow Dr. Greally on LinkedIn. You can also check out our guest host Kristina Inman on LinkedIn.
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our RU-vid channel, this includes some episodes recorded at NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, RU-vid and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Опубликовано:

8 июл 2024

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Комментарии : 3

@TheProactivePatients Месяц назад

I would like to see a system on the clinical side, like Ambry's "lifelong patient" idea (applied to WES), applied to whole genome screening. If we have new information on specific variants, that information gets disseminated to the providers. The problem is that the information needs to flow the other way, as new clinical phenotypes develop, that information needs to go back to the lab that is analyzing the DNA to add to the information of variants they are looking for. If this came to fruition, I would have my daughter's WGS run (she has a very rare birth defect of unknown etiology). I (personally) don't see the point in running WGS without being able to constantly have it reinterpreted with information flowing in both directions. I'd rather have a flow of information than a static picture. And, yes, we need a heck of a lot more information for those groups who are under-represented, though the control issue is massive. You could say that this static picture effect of genetic testing is really limiting our ability to serve our patients. How many patients were told 10+ years ago that since they tested negative for a BRCA1/2 gene mutation, they "don't have a hereditary breast cancer?" It is one of my biggest pet peeves with other GCs. Never say that a person absolutely does not have a hereditary condition. They are negative for things that we know and can look for today. We have no idea what we will be looking at in the next 10 years. This has been one of the biggest reasons why so many people are running around unaware of their risks, or worse, underestimating their risks: they were under the impression that their result was absolute and final. Thank you for publishing this interview. It gives me hope for how fast things will change. The interpretation tools needed are intimidating but inspiring. I look forward to being a part of the translation team to help patients interpret and process this information and what it means for them.

@drchimrichalds6752 27 дней назад

Forgive me but I believe you meant to comment on the episode that was referring to Genomic Reanalysis with Ambry that is the next podcast that came out after this one. Am I correct? This one is on epigenetics.

@TheProactivePatients 27 дней назад

@@drchimrichalds6752 since I commented on this video before that one was released, it was just coincidental timing. I was reacting to their discussion in this episode, but already knew of Ambry's system as applied to WES. I'd like to see that sort of system applied to WGS.