DNA Today: A Genetics Podcast

#271 Genetic Optic Neuropathies with Dr. Andrew Carey

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes you might even hear Kira join as a guest host especially when there will be genetic topics. 
 
It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles. 
 
In this episode, we were honored to have Dr. Andrew Carey as a guest. As a disclosure, Dr. Carey is the co-host Cathy Gildenhorn’s doctor who diagnosed her rare disease, Wolfram Syndrome. Andrew R. Carey, MD (he/him) is an Assistant Professor of Ophthalmology in the division of Neuro-Ophthalmology at the Wilmer Eye Institute. He specializes in neuro-ophthalmic disorders such as optic neuritis, uveitis related papillitis, ischemic & hereditary optic neuropathies as well as diseases of the retina, including age-related macular degeneration, diabetic retinopathy, toxic retinopathies and inherited disorders of the retina such as retinitis pigmentosa.
 
As we unravel the complexities of neuro-ophthalmic disorders and rare diseases, Dr. Andrew Carey provides a wealth of knowledge and guidance. Join us in this enlightening conversation, gaining insights into the diagnostic journey, the detective work of a neuro-ophthalmologist, and the promising future of research in this field.
 
Defining Neuro-Ophthalmology:
- An exploration of what neuro-ophthalmology entails and indications of when individuals should seek the expertise of a neuro-ophthalmologist.
 
Eyes as Windows to Rare Diseases:
- Discussion on the potential for diagnosing rare diseases through eye examinations.
- Identifying the type of eye doctor suitable for evaluating and diagnosing rare diseases.
 
Diagnostic Journey and Recognizing Symptoms:
- Dr. Carey shares insights into a typical diagnostic journey, illustrated by Cathy's experience with Wolfram syndrome.
- The significance of recognizing atypical symptoms and the role it played in Cathy's diagnosis.
 
Referral Process and Timely Treatment:
- Understanding the referral process to a neuro-ophthalmologist.
- Strategies to help patients find treatment in a timely manner.
 
Dr. Carey as a Medical Detective:
- Dr. Carey's role as a detective in diagnosing various health conditions through eye examinations.
- An exploration of different types of optic neuropathies and their distinctions.
 
Communication with Eye Doctors:
- Emphasizing the importance of open, detailed, and comprehensive communication about symptoms with eye doctors.
 
Wolfram Syndrome and Rare Diseases:
- Dr. Carey's journey of learning about Wolfram syndrome, whether in school or through practical experience.
- Insights into diagnosing rare diseases and their genetic components.
 
Demographics of Rare Disease Patients:
- Understanding the age demographics of patients with rare diseases – pediatric, adult, or both.
 
Wolfram Research and Future Outlook:
- Dr. Carey shares details about his research on Wolfram syndrome and its goals.
- How listeners can get involved, learn more, or contribute to support research efforts.
 
The Future of Rare Diseases and Genetic Optic Neuropathies:
- Dr. Carey provides a glimpse into the future of rare diseases and genetic optic neuropathies.
 
Closing Advice:
- Dr. Carey shares valuable advice for listeners as they navigate potential neuro-ophthalmic concerns or rare diseases.
 
Please be sure to check out more episodes of It Happened To Me, just search the title in whatever podcast player you use to listen to DNA Today!
 
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 270 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 YouTube 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, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg

In this episode we dive deep into two crucial reproductive genetic topics with the knowledgeable and experienced genetic counselor, Kelly Loggenberg. Joining us from Next Biosciences, a Female-led South African Biotechnology company specializing in Reproductive Genetic Testing, Kelly sheds light on Preimplantation Genetic Testing for Aneuploidy (PGT-A) and Genetic Testing of Miscarriage, also known as Products of Conception (POC).
 
Overview of PGT-A:
- Kelly provides an overview of Preimplantation Genetic Testing for Aneuploidy (PGT-A) and its role in reproductive genetic testing.
- Reasons why patients or couples opt for PGT-A and the decision-making information it provides.
 
NIPS vs. PGT-A:
- The distinctions between Non-Invasive Prenatal Screening (NIPS) and PGT-A, exploring conditions that NIPS can screen for that PGT-A may not cover.
- The necessity of NIPS when a couple has opted for PGT-A for their embryos.
 
Challenges and Ethical Considerations:
- Discussion on the challenges and ethical considerations associated with PGT-A.
- How genetic counselors navigate these discussions with patients.
 
Products of Conception (POC) Testing:
- Insight into Products of Conception (POC) testing and the situations prompting individuals or couples to choose this genetic testing.
- Contribution of POC testing to understanding miscarriages and its role in future reproductive planning.
 
Practical Aspects of POC Testing:
- Clarification on whether individuals can bring in tissue for POC testing after a miscarriage at home or if a follow-up procedure is required.
 
Regional Variations and International Experience:
- Kelly's international experience in the UK and the potential variations in acceptance or utilization of PGT-A and POC testing in different regions/countries.
 
Technological Advancements:
- How technology and advancements in genetic testing have influenced the landscape of reproductive genetic testing during Kelly's career.
 
The Future of Reproductive Genetic Testing:
- Kelly's insights into the future of reproductive genetic testing and potential breakthroughs or improvements on the horizon.
- Exciting emerging technologies or research areas within reproductive genetics.
 
About Kelly Loggenberg:
Kelly holds an MSc (Med) in Genetic Counselling from the University of Cape Town, South Africa, with over 15 years of experience in clinical and research settings. After a decade as a genetic counselor in the UK, she returned to South Africa in 2018. Currently, Kelly serves as the in-house genetic counselor at Next Biosciences, offering valuable advice on preimplantation genetic testing, non-invasive prenatal testing, and products of conception testing to clinicians and patients alike.
 
As we explore the complexities and advancements in reproductive genetic testing, Kelly Loggenberg provides invaluable insights into the present and future of this rapidly evolving field. Tune in to the podcast to gain a deeper understanding of these essential topics and their impact on reproductive health.
 
Be sure to check out Episode 221 of DNA Today that Kelly recommended during the episode. In this episode we interview a couple of her fellow South African Genetic Counseling colleagues, Samantha Bayley and Tina-Marié Wessels.
 
Stay tuned for the next new episode of DNA Today on January 12th! New episodes are released every Friday. In the meantime, you can binge over 270 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 YouTube 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 Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci

Can computers diagnose genetic conditions? Could we train computers to analyze photos of people to help geneticists and other healthcare providers diagnose conditions based on physical features? 
 
Join the visionary journey as our host Kira Dineen sits across from the insightful Robert Boscacci, the mind behind "The Spring of Sight," and unravels the intertwining of computer vision and genetic diagnosis. Plunge into a dialogue that traverses Rob's transition from the digital effects of television to the cutting-edge of AI, illuminating the intricate process of equipping computers to decode our visual world and its transformative impact on medical science. Our discussion explores the precise identification of genetic disorders, offering a glimpse into a future where technology and genetics coalesce with astonishing clarity. 
 
The episode ascends further as we scrutinize the nuanced realm of data and bias in teaching machines to see. We dissect the transition from traditional rule-based algorithms to the nuanced world of data-driven AI learning, recognizing the significance of diverse datasets in averting biases—a fundamental aspect when addressing diagnoses across a spectrum of conditions, like the distinctive features of Treacher Collins syndrome. Our conversation turns to the challenges healthcare faces in adopting AI, from stringent validations to the delicate dance of applying AI without overshadowing human expertise. Dive with us into the profound implications of AI in healthcare, where the fusion of human and machine intelligence could redefine the horizons of disease diagnosis and treatment.
 
In The Spring of Sight, Robert Boscacci draws from his double background in digital film production and machine learning to explore the utility of computer vision with industry experts. In the burgeoning field of computer vision, researchers and entrepreneurs build systems to extract meaning from digital images in unprecedented new ways, and even generate convincing new synthetic images. As advancements in the field carry in a tidal wave of promising use cases, it becomes increasingly clear that we'll have to implement nuanced policies to contend with their double-edged nature.
 
Robert Boscacci is the former Data Science Lead at Butter Works, a startup that used computer vision to analyze hundreds of thousands of social media videos for clients like Disney+, Netflix, Spotify, and ViacomCBS. He comes from a background in New York City’s film post-production industry, with IMdB credits as a film colorist and dailies technician on Netflix features and episodic productions.
Boscacci is curious about how tech policy can become more proactive, so that communities and organizations can maximize the utility and minimize the harm of the cutting edge. He hopes to encourage readers from all walks of life to join the conversation around tech and policy—so that the folks who normally get steamrolled in the name of progress are more empowered to make their voices heard, and those driving the steamrollers become more aware of themselves.
Boscacci is the caricature of a millennial Brooklyn hipster: Picture him wearing his nearly non-prescription glasses, dismounting his fixie, and tapping to pay to slurp a single-origin espresso on his way to the nonprofit repertory cinema. He un-ironically holds a fishing license from the state of New York and uses it to catch Bluegill in the lake at Prospect Park.
 
Episode Segments
 
0:00:43 - Computer Vision for Diagnosing Genetic Conditions 
0:04:25 - Exploring the Concept of Computer Vision 
0:09:55 - Diagnosing Genetic Conditions With Computer Vision
0:12:07 - Transfer Learning for Vision Models
0:20:40 - Computer Vision in Diagnosing Rare Diseases 
0:26:51 - The Importance of Embracing Medical Technologies
 
Be sure to enter our giveaway to win a signed copy of Rob’s book, “The Spring of Sight” via our X (Twitter), Instagram, Threads, and LinkedIn. Look for the post of me and Rob with the book! 
 
Can’t wait to see if you win? Buy the book here on Amazon. If you speed read the book in one sitting like our host Kira did, continue reading more from Rob on Medium. You can also watch the shows and films that Rob was on the post-production teams via his IMDb page. And of course he’s on LinkedIn. 
 
Stay tuned for the next new episode of DNA Today in 2024! We will be continuing our release schedule of new episodes every Friday. In the meantime, you can binge over 260 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 YouTube channel.  
 
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 Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy

We are diving deep into genetic technology, specifically optical genome mapping and transcriptome analysis. Joining us to explore these technologies is Dr. Peter Nagy. 
 
Dr. Nagy graduated from Pécs Medical University, Hungary, in 1989. He received his PhD in biochemistry in 1995 from Purdue University. He completed his AP/Molecular genetic pathology residency and postdoctoral fellowship training at Stanford University Medical Center. Dr. Nagy is a member of ASCP and CAP and serves as a CAP laboratory inspector. He is board certified in Anatomic and Molecular Genetic Pathology and has worked as molecular laboratory director since 2004 at the University of Iowa, Columbia University and Medical Neurogenetics Laboratories. Dr. Nagy’s research interest is the development and application of next generation sequencing and other genomic technologies for molecular diagnostics. He has authored more than 30 articles published in such journals as Cell, Molecular Cell, and Proceedings of the National Academy of Sciences.
On This Episode We Discuss:
Challenges associated with diagnosing rare genetic diseases
How various tiers of genetic testing (panels, exome, whole genome) cater to different clinical needs
Advantage of optical genome mapping compared to traditional cytogenetic analyses like FISH, chromosomal microarray (CMA), and whole exome sequencing (WES)
Power and accuracy of combining whole genome sequencing and optical genome mapping 
Advantages of transcriptome analysis
Navigating discussions with healthcare providers and patients to ensure they understand the implications and benefits of various genetic testing technologies
Impact of optimal genome mapping and transcriptome analysis on precision medicine
 
Learn more about Praxis Genomics on their website. Dr. Nagy has done research on the phylogenetic origins of the Árpád Dynasty, check out this paper in which he is the first author and this paper. In this interview we also referenced DNA Today Episode 247 about DMD Exon Skipping.   
 
Stay tuned for the last 2023 episode of DNA Today on Friday, December 21st! This is a special interview as I sat down with author Robert Boscacci in NBC Universal Studios to pick his brain about how computer vision can be used as a tool to diagnose genetic conditions. 
 
New episodes are released every Friday. In the meantime, you can binge over 265 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 YouTube 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 Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#267 Is Genetic Ancestry Useful for Carrier Screening?

We are thrilled to welcome guest Blair Stevens, a certified genetic counselor and Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston and Prenatal Genetics media expert for the National Society of Genetic Counselors. Blair joins this discussion to shed light on the clinical utility of ancestry and its use in reproductive genetic counseling spaces.  
Joining as a co-host today is Dessiah Phillips, a genetic counseling student at Sarah Lawrence College. Together, we will explore ancestry data from both a clinical and educational perspective. Tune in as we delve into how this data is used in personalized medicine and tailoring healthcare solutions. 
 
Blair Stevens is a prenatal genetic counselor with over 15 years experience in direct patient care. She is an Associate Professor and serves as the Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston. Blair specializes in helping families understand and adjust to unexpected prenatal diagnoses and counseling families with fetal anomalies identified on ultrasound. She has also served in various leadership positions within the National Society of Genetic Counselors.
On This Episode We Discuss:
Historical and current use of genetic ancestry in healthcare
Approaches and techniques of using ancestry data
Challenges of using ancestry data
How unknown ancestry impacts healthcare
Assessing carrier status of conditions based on ancestry data
Ethical considerations and the future for ancestry data
 
Stay tuned for the next new episode of DNA Today on Friday, December 22nd! New episodes are released every Friday. In the meantime, you can binge over 260 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 YouTube 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 Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#266 Genetics Wrapped 2023

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2023. It’s hard to fit a year’s worth of genetics in one episode, let alone a half hour so we bring you this special double episode of DNA Today. 
 
Our host Kira Dineen is joined by two leaders in genetics, Dr. Eric Green and Dr. Brendan Lee. 
 
Dr. Eric Green
Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications. 
 
Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! He was featured on Episode #182 when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. Dr. Green was a panelist on the PhenoTips Speaker Series installment that our host Kira Dineen moderated about population genomics in clinical practice, this was also released on the DNA Today podcast feed as Episode #260. He was also on last year’s Genetic Wrapped episode (#214). 
Dr. Brendan Lee
As a pediatrician and geneticist, the overall mission of Dr. Brendan Lee’s research program is to translate the study of structural birth defects and inborn errors of metabolism into a basic understanding of development, disease and novel therapeutic approaches. In the area of metabolism, we have applied genetic approaches to the study of biochemical genetic disorders (specifically urea cycle disorders) as models of complex diseases (those involving nitric oxide dysregulation). This has led us to study the consequences of metabolic derangements broadly in the endocrine, cardiovascular, skeletal, renal and neurological systems. In the area of structural birth defects, we have studied paracrine and endocrine signaling pathways that regulate skeletal development including morphogens (TGF, Wnt and Notch), and extracellular matrix proteins and their modifications (e.g., collagen prolyl-hydroxylation) that contribute to the human skeletal dysplasias including brittle bone diseases and connective tissue diseases like Ehlers-Danlos syndrome. These developmental pathways have led us to ask how their dysregulation contributes to common diseases such as osteoporosis, osteoarthritis and bone cancer.
 
The mechanistic discoveries of my laboratory research program are translated into the clinical arena via clinical research that is performed as part of the Skeletal Dysplasia Clinic and the Metabolic Disorders Clinic at Texas Children’s Hospital, respectively, and as part of two NIH rare diseases clinical research consortia (the Brittle Bone Disorders Consortium and the Urea Cycle Disorders Consortium). My clinical research program began with stable isotopic measurements in humans and urea cycle disorder patients to better diagnose and assess new treatments. These human studies evolved into the assessment of nitric oxide flux in patients with UCDs and specifically in those with argininosuccinic aciduria. I have participated in and led both investigator-initiated and industry-sponsored interventional studies including the design and implementation of Phase II and III studies of a novel ammonia scavenger glyceryl-triphenylbutyrate in urea cycle patients; combinatorial phenylbutyrate/arginine treatment and nitric oxide supplementation in patients with argininosuccinic aciduria; and phenylbutyrate in maple syrup urine disease. In the area of skeletal dysplasias, I have studied the utility of zoledronic acid, teriparatide and anti-TGF treatments in pediatric and adult osteogenesis imperfecta. Our preclinical gene therapy studies have led to a clinical trial of helper-dependent adenoviral gene therapy in osteoarthritis. Finally, I have focused on advancing the diagnosis of genetic diseases via gene discovery, multi-omic approaches to phenotyping and mechanistic studies in the NIH Undiagnosed Diseases Network.
 
Top 2023 Genetics Advancements
 
The 20 anniversary of the completion of the Human Genome ProjectEpisode Recommendation: #182 Eric Green on the Complete Human Genome Project
Shoutout to listener Illham Ratbi who shared on our social media that this was among the top stories they were impressed with: “The complete sequencing of Y chromosome the last missing piece of human genome”
 
New, specific gene editing may treat sickle cell disease Sharma A., et al. (2023). CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat Sickle Cell Disease. N Engl J Med. 389(9), 829-832. 
Episode Recommendation: #251 Diversifying Genetic Research with 23andMe (including sickle cell disease insight)
Episode Recommendation: #201 Sickle Cell Disease with Lifting the Veil
Episode Recommendation: #198 CRISPR Ethics with Sam Sternberg
 
Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian disorders Hoskovec, J., et al. (2022). Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions. Genet Med. 25(2), 100334. 
Concerned about BillionToOne’s BabyPeek
Episode Recommendation: #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne (Author of this article, Jennifer Hoskovec, is one of the guests)   
 
Polygenic risk scores (PRS) and family history (FH) are independent indicators of inherited disease riskMars, N., et al. (2022). Systematic comparison of family history and polygenic risk across 24 common diseases. Am J Hum Genet. 109(12), 2152-2162.
Episode Recommendation: #168 Polygenic Risk Scores with Giordano Bottà
 
Pharmacogenetic intervention reduces serious adverse drug events 
Swen, J.J., et al. (2023). A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open- label, multicentre, controlled, cluster-randomized crossover implementation study. Lancet. 401, 347–356.
Episode Recommendation: #174 Pharmacogenomics with Fulgent Genetics
Episode Recommendation: #229 Pharmacogenomics with Avni Santani
 
Natural language processing helps to prioritize critically ill newborns for whole-genome sequencingPeterson, B., et al. (2023). Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning. Genome Med. 15(1), 18.
Episode Recommendation: #226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde (Our most shared episode of 2023 according to Spotify) 
 
Predictions for 2024 including artificial intelligence Episode Recommendation: #231 ChatGPT and AI In Genetics with Daniel Uribe (Our most popular episode of 2023 according to Spotify) 
Be sure to read “Genomic Medicine Year in Review: 2023”. It’s not published, yet but we will update these show notes/blog post with the link when it is. Many of the landmark papers we discussed are highlighted in this article. Dr. Green is one of 14 co-authors that selected these top papers for the year. 
 
Stay tuned for the next new episode of DNA Today on Friday, December 15th! New episodes are released every Friday. In the meantime, you can binge over 265 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 YouTube 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 Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#265 Whole Genome Sequence Analysis with Nebula Genomics

Nebula Co-Founder Kamal Obbad analyzes our host Kira Dineen’s genome!
 
Whole genome sequencing, once a futuristic concept, has now become an integral part of the genetic landscape. When this groundbreaking technology first emerged, it came with a staggering price tag. 
 
Picture this: It's 2003, and the Human Genome Project has just been completed, costing nearly $3 billion to sequence a single human genome. Fast forward 20 years to today, this looks radically different. Thanks to remarkable advancements in technology, the price of whole genome sequencing has plummeted to a fraction of what it once was. 
 
Nebula Genomics offers consumers whole genome sequencing and lifetime memberships for only $300. Yeah, that’s it; $300. So our host Kira Dineen couldn’t resist and sent off her cheek swab to Nebula to have her whole genome sequenced for the first time. To explore the results we are joined by Kamal Obbad, who is the co-founder of Nebula Genomics. Previously, he was a product manager at Google working within Google Research and ChromeOS. Kamal was a Gates-Cambridge Scholar at the University of Cambridge and is a graduate of Harvard University. Additionally, he is a Forbes 30 under 30 honoree.
On This Episode We Discuss:
Pioneering Geneticist  Dr. George Church’s role with Nebula Genomics 
Inspiration to start Nebula Genomics 
Key benefits of having access to one's entire genome compared to limited genetic testing (like gene panels or even exomes)
How Nebula helps consumers understand the 100 GBs of data produced from their whole genome sequence 
What whole genome results provide and how scientifically accurate results are for each trait
The process to decide what categories to include in Nebula’s WGS kit including autoimmunity, behavior, cancer, cardio, metabolism, and pregnancy. 
Requirements for how much data needs to be able to back up the information in the reports
How Nebula comes up with the likelihood for behavioral traits
Exploring how people should or should not use the health related information
How often people should check back with their whole genome sequencing lab for updates
Additional traits Nebula is considering adding in the future
If you too want to have your whole genome sequenced by Nebula Genomics use code “DNATODAY” for 15% off here! We also are giving away a kit, so head over to our social media @DNATodayPodcast on Instagram, LinkedIn, X and Threads to enter. 
 
Keep up with Kamal on X (formerly Twitter) and LinkedIn. Also check out this cool article featuring Kamal. 
 
Stay tuned for the next new episode of DNA Today on December 8th! New episodes are released every Friday. In the meantime, you can binge over 260 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 YouTube channel.  
 
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 Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#264 XXY (Klinefelter Syndrome) with Ryan Bregante

Ryan is the president and founder of California based non-profit, Living with XXY. Ryan is a 37 year-old with Klinefelter syndrome or 47,XXY. Klinefelter syndrome is the result of an extra X chromosome, affecting roughly 1 in 500 males. Ryan’s parents learned about his XXY diagnosis during his mother’s pregnancy. His experiences navigating XXY and those of the over 600 families he’s met along the way help guide and inspire the work Ryan does today.
 
While Ryan’s background includes work as a fine dining chef and action sports photographer, he currently spends most of his time advocating for his community through his non-profit. Living with XXY was officially established in 2019 and focuses on creating a community, spreading awareness and sharing positive traits for those with an XXY diagnosis. Living with XXY is growing everyday and has a reach of over 40 countries.
 
Ryan is currently traveling around the US, meeting with clinics, professors/students, other professionals and families to share the work of Living with XXY and create opportunities for connection for those with XXY.
 
On This Episode We Discuss:
Basics of Klinefelter Syndrome aka XXY
Processing his diagnosis at the age of 9 years old 
Symptoms and challenges that people with XXY experience
How symptoms can differ for people who are mosaic with XXY
Taking testosterone 
Typical way of learning of the XXY diagnosis 
XXY affecting about 1 in 500 babies assigned male at birth, but historically, it’s been underdiagnosed (only 25% diagnosed in their life)
The effect of NIPS changing how many people are diagnosed with XXY
Debunking myths about XXY
Positive traits many people with XXY have in common such as being “right brained”
Support and resources “Living with XXY” offers to families and individuals affected by Klinefelter syndrome
How “Living with XXY” engages with the medical community to promote more accurate understanding and care for individuals with XXY
The global reach of “Living with XXY” with a presence in over 40 countries
 
Links mentioned during the episode: 
 
Living with XXY Resource Sheets (Kira’s Fav she gives to patients)
Living with XXY Podcast 
Strategies and advantages of early diagnosis in Klinefelter's syndrome
Facebook Support Group
 
Stay tuned for the next new episode of DNA Today on December 1st! New episodes are released every Friday. In the meantime, you can binge over 260 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 YouTube 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 Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#263 Ehlers-Danlos Syndromes with Izzy Kornblau

We return in person to record at NBC Stamford Studios to learn about Ehlers-Danlos syndromes, we are joined by cardiovascular genetic counselor, patient advocate, and YouTuber Izzy Kornblau.
Izzy Kornblau, MS, CGC, is a cardiovascular genetic counselor at the Mount Sinai Medical Center in New York. Izzy has over 3 years of research experience in the Ehlers-Danlos syndromes (EDS). Her current research focus is investigating the genetic etiology of hypermobile Ehlers-Danlos syndrome using a candidate gene first identified by the medical university of South Carolina. 
Izzy began making YouTube videos in 2018. content includes educational videos about genetics, genetic counseling, EDS, and navigating the healthcare system and social  situations with a chronic illness. She graduated with a master’s of genetic counseling from the Icahn School of Medicine at Mount Sinai in 2023 and completed her undergraduate degree at Washington University in St. Louis in 2019. She has over 45,000 YouTube subscribers with over 100 published videos. 
On This Episode We Discuss:
 
Izzy’s Youtube channel success covering genetics, genetic counseling, EDS, and navigating healthcare with a chronic illness.
Insights into Ehlers-Danlos syndromes: Understanding different types under the EDS umbrella and their impact on individuals and families.
Personal journey: A genetic counselor and individual with EDS – how personal experience shapes genetic counseling approach.
Personal insights in supporting patients and families dealing with EDS: Leveraging firsthand knowledge to provide effective support.
Signs and referrals for EDS evaluation: Addressing the often-overlooked condition and signs that may prompt a genetics referral.
Challenges and opportunities in career as a genetic counselor with EDS: Shaping perspective and influencing genetic counseling approach.
Advice for those newly diagnosed with EDS: Providing guidance, especially on self-advocacy.
Fostering community and support: Building connections for patients and peers dealing with genetic conditions.
Research on hypermobile EDS genetic etiology: Investigating candidate genes and contributing to the understanding of the condition.
Research background informing genetic counseling: How a research background shapes the approach to genetic counseling, particularly in EDS.
Tips for navigating genetic conditions and healthcare: Advice for individuals and families facing challenges in these areas.
Key issues in genetics and healthcare accessibility: Discussing important challenges that need more attention.
Importance of raising awareness about genetic conditions: The impact on early diagnosis and treatment.
Legacy in the field of genetics: As a counselor and content creator, the desired impact on the field and community.
 
Check out Izzy’s YouTube channel. We recommend this video where Kira and Izzy react to genetic scenes in TV shows like Glee, Grey’s Anatomy, and Broad City. 
 
Stay tuned for the next new episode of DNA Today on Friday November 24th, 2023! New episodes are released every Friday. In the meantime, you can binge over 260 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 YouTube channel.  
 
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 Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 
 

#262 Genetic Counseling in the Digital Age with Doron Behar

On DNA Today we are often exploring how genomic data is altering healthcare. We will continue to do so in this episode with the CEO of Igentify, Dr. Doron Behar. He holds MD and PhD degrees from the Technion - Israel Institute of Technology. We are going to dive into the genetic counseling bottleneck and how companies like Igentify, are working to alleviate it. 
 
Dr. Doron M. Behar, CEO, Igentify holds an MD and PhD degrees from the Technion - Israel Institute of Technology. At his capacity as an MD he graduated two specialization programs in Internal Medicine and Critical Care Medicine in Rambam Medical Center, Haifa Israel and a third specialization program in Medical Genetics at the Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus. In parallel, his PhD thesis was in the field of Population Genetics. Dr. Behar's research area of interest is across the broad range of evolutionary genomics, ancestry, phylogenetics and translational genomics.
 
Dr. Behar has multi-year background experience in the development of genetic testing for the public, using a direct internet based customer approach, at his capacity as the chief medical officer of Gene by Gene Ltd. During the course of his work he gained expertise in the various aspects of mass genotyping, including regulation, privacy, database creations and mining, website designs, automation, machinery, genetic analysis, quality reassurance, and more. His primary interest is in developing robust, low-priced genetic testing to the general public that will allow the hope of responsible and personalized genetic medicine to any individual, worldwide.
On This Episode We Discuss:
Leveraging technology to alleviate the pressure and effects of burnout
How to ensure we don’t lose a personal connection in the age of digital age
The role of precision medicine in the genomics revolution 
Challenges of implementing technology in the healthcare system presents challenges
The “Genomic Wallet” allowing our genetic information to be accessible 
Advances in genomics on the horizon 
 
Learn more at igentify.com. Stay tuned for the next new episode of DNA Today on Friday, November 17th! New episodes are released every Friday. In the meantime, you can binge over 260 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 YouTube 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 Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.