DNA Today: A Genetics Podcast

This week we’re bringing you a special episode of DNA Today! Our host, Kira Dineen, was recently a guest on The Science of Everything Podcast, discussing genetic testing with host, James Fodor. Kira thoroughly enjoyed her experience being a guest on this podcast, so we’ve decided to also release the episode on the DNA Today podcast feed! To give you a teaser… we covered a range of genetic testing topics from the process and science behind the testing, types of conditions that can be tested for, and the difference between genotyping and sequencing. We even discussed direct-to-consumer genetic testing like 23andMe and ancestry including the potential (and current) uses for criminal justice. We speculated about social implications of the testing along with other futures that may be in store for genetic testing. On This Episode We Discuss: The process and science behind genetic testing Types of conditions that can be tested for The difference between genotyping and sequencing Direct-to-consumer genetic testing Social implications of testing The future of genetic testing If you enjoyed James’ interview style be sure to subscribe to The Science of Everything Podcast! Keep up to date with James and the podcast on Facebook and LinkedIn. Stay tuned for the next new episode of DNA Today on April 15, 2022 where we’ll be discussing reproductive DNA testing with Mitera! New episodes are released on Fridays. In the meantime, you can binge over 175 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED) If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bombshells...and shows how new technology is unraveling the deep, dark secrets of the baby business. Along with scandalous personal stories, BioHacked: Family Secrets also reveals unexpected ethical, scientific, and political questions. It’s a vital listen for anyone who loves wild stories about science, tech, and history...or even just messy family drama. You can find BioHacked: Family Secrets...wherever you’re listening right now. New episodes drop every Wednesday.

Dr. George Emanuel shares about single-cell spacial genomics in this podcast episode. Dr. Emanuel is the Scientific Cofounder and Director of Technology and Partnerships at Vizgen, a biotechnology company that is dedicated to pioneering the next generation of spatially resolved transcriptomics profiling tools to provide new insight into the biological systems that underlie human health and disease. Spatial genomics is a new frontier in molecular biology, which aims to assay the genomic information of single cells within their native tissue environment, combining spatial transcriptomics with single-cell sequencing. This exciting technology was named Nature’s "Method of the Year 2020"! Dr. Emanuel has spent the past decade developing high-throughput spatial profiling technologies including extending Vizgen’s MERFISH (Multiplexed Error-Robust Fluorescence in situ Hybridization) technology to profile 10,000 genes in the same sample. He received dual undergraduate degrees from the University of Colorado, and a Ph.D. in Biophysics from Harvard University. On This Episode We Discuss: Single-cell spatial genomics Difference between sequencing genes and analyzing spatial gene expression Insight for researchers through gene expression analysis MERFISH & MERSCOPE Limitations of the testing Areas of research that MERFISH can be applied to How can researchers get access to a MERSCOPE Platform If you’re interested in learning more about Vizgen’s technology, visit their website to play around with the MERSCOPE Vizualizer, and check out their papers on mapping the brain and how MERFISH was demonstrated on 10,000 genes. Keep up to date with the latest developments at Vizgen by following them on Twitter, Facebook, and LinkedIn, and connect with our guest, Dr. George Emanuel on Linkedin! Stay tuned for the next new episode of DNA Today on April 8, 2022 where our host, Kira Dineen, will be on the other side of the mic. She will be interviewed by James Fodor of The Science of Everything Podcast about genetic testing. New episodes are released on Fridays. In the meantime, you can binge over 175 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED) Sema4 offers an extensive portfolio of health information solutions, including pre-clinical and clinical trial support, analytics for actionable insights, and advanced sequencing services. Sema4’s family of precision oncology products and services, Sema4 Signal®, provides data-driven care solutions with advanced analytics, digital tools, and exome-based somatic and hereditary cancer genomic tests. Learn more about their mission at Sema4.com. Sema4, a patient-centered health intelligence company. (SPONSORED)

World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine. On This Episode We Discuss: The difference between WES and WGS How WGS differs between laboratories The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expecting Situations in which trio testing is helpful for WGS Prenatal WGS The future of newborn screening WGS for hereditary cancer syndromes How people learn more about PerkinElmer’s WGS Learn more about WGS at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn. Head over to our social media to enter our giveaway! Search “DNA Today” on Instagram and Twitter. Go to our host’s posts on LinkedIn by searching “Kira Dineen”. There you can enter to win “Modern Clinical Molecular Techniques”. Dr. Hedge is one of the editors. An earlier edition was one of Kira’s textbooks in undergrad! Stay tuned for the next new episode of DNA Today on April 1st 2022, where we’ll be discussing single-cell spatial genomics with Vizgen! New episodes are released on Fridays. In the meantime, you can binge over 175 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit, visit picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics’ interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on Episode #174 of DNA Today! (SPONSORED) Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of “DNA Today”. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)

We are ecstatic to introduce this week’s guest, Lauren Potter! You might know Lauren as Becky Jackson from the TV show Glee. She was in all six seasons playing a character who, like her, has Down Syndrome! After graduating high school and attending college in California, Lauren began acting, starring in her first film at the age of 16. In 2012 she was nominated for a SAG award in the Ensemble in a Comedy Series category for her work in Glee, and she also received the SAG/AFTRA Harold Russell Award at the 2012 Media Access Awards On top of being a fabulous and successful actress, Lauren is also a fierce advocate. President Obama appointed her to the President’s Committee for People with Intellectual Disabilities. She has advocated with AbilityPath, Best Buddies International, the National Down Syndrome Society, The American Association of People with Disabilities, and Special Olympics. We are honored to have Lauren on the show, and the timing couldn’t be more perfect with World Down Syndrome Awareness Day coming up on March 21st! This day was chosen because people with Down Syndrome have three copies of chromosome 21, so the 21st day of the 3rd month. On This Episode We Discuss: What it is like growing up with Down Syndrome Lauren’s experience auditioning for the role of Becky on Glee What Lauren wants people to know about how the R word can affect people Lauren’s advocacy work with Best Buddies and the President’s Committee for people with Intellectual Disabilities “A Guest Room” a short film where Lauren was the lead actress and executive producer Inspirational advice for people with Down Syndrome Advice for parents who may have just found out their baby has Down Syndrome Be sure to follow Lauren on Twitter, Facebook, and Instagram to stay up to date on her advocacy work and latest acting roles! Stay tuned for the next new episode of DNA Today on March 25, 2022 where we’ll be discussing whole genome sequencing with world-renowned geneticist Dr. Madhuri Hegde, Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics. New episodes are released on Fridays. In the meantime, you can binge over 175 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Every pregnancy has a chance to have a genetic abnormality or complication. Mitera empowers you to make the most informed reproductive decisions through their at-home genetic tests, without needing your doctor’s order. These tests include non-invasive prenatal screening (Mitera’s Peaches&Me) and carrier screening (Mitera’s 23pears). Request your own kit at miteragenetics.com and use code “DNATODAY” for 10% off. Mitera. Predict. Prevent. Prepare. (SPONSORED) Vizgen is dedicated to pioneering the next generation of genomics, providing tools that demonstrate the possibilities of in situ single cell spatial genomics. These tools are enabling researchers to gain insight into the biological systems that govern human health and disease. Stay tuned for our full episode with Vizgen where we explore single-cell spatial genomics. Get a sneak peak by visiting their website at vizgen.com. Vizgen, leaders in spatially resolved, single-cell transcriptomics. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Did you know there is a genetic counselor that specializes in offering care to those in the adoptee community? Brianne Kirkpatrick co-wrote “The DNA Guide for Adoptees” to provide a resource for those in the adoptee community who are utilizing DNA testing to find biological relatives or to seek out medical information. She also started Watershed DNA to offer personalized genetic counseling to directly support people in the aftermath of a surprise DNA discovery. You can hear Brianne share her insight from her book in Episode 103 of DNA Today! Learn more atWatershedDNA.com where you can also book your consult today with Brianne. (SPONSORED)

This week we’re joined by Dr. Brian Shirts to discuss ConnectMyVariant, a service that dedicated to helping patients and families understand unique genetic variants and provides different avenues of informing family, or even people distantly related, of possible inherited risk of diseases like cancer. Dr. Shirts is an Associate Professor of Laboratory Medicine at the University of Washington. His research focuses on integrating complex genetics knowledge into clinical care. His main goal is to help prevent all hereditary cancer. He is currently working to improve strategies to help people with inherited cancer risk connect with close and distant relatives, classify rare variants, and to improve how genetic information is presented to both patients and clinicians. In his clinical role, he is one of a small group of geneticists and laboratory pathologists who supervise BROCA and ColoSeqTM tests for hereditary cancer risk at the University of Washington. On This Episode We Discuss: Common cancer genes The importance of sharing genetic test results with family members What should people consider before posting their variant online and how GINA protects them The inspiration behind creating “Connect My Variant” Why it is helpful to connect with people who have the same variant How genetic counselors and other healthcare providers can share “Connect My Variant” with their patients To connect with other individuals with the same mutations, visit the Connect My Variant message board, and to learn more about cancer genes visit The American Cancer Society and Black Cancer Genes (featured on Episode #159 of DNA Today). Check out Heather Hample’s article Dr. Shirts mentioned about families in Ohio with Lynch syndrome. Keep up to date with Connect My Variant on Facebook and Instagram and connect with our guest Dr. Shirts on LinkedIn. Stay tuned for the next new episode of DNA Today on March 18, 2022! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes since 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics’ interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on episode #174 of DNA Today! (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Today I want to recommend a podcast to you called Our Opinions Are Correct hosted by Charlie Jane Anders and Annalee Newitz.Every other week, Our Opinions Are Correct dissects a different topic related to science fiction, science, and everything in between. They've talked about everything from how to write a good fight scene, to the death of the universe. Charlie Jane Anders is an award winning author of several science fiction novels, including recently released Victories Greater than Death. Annalee Newitz is an award winning science journalist who writes for The New York Times and the Atlantic. Together, they will befriend cosmic monsters! Subscribe to Our Opinions Are Correct on Apple Podcasts, and anywhere else you listen to podcasts! (SPONSORED)

This week we’re joined by Gregory Kellog of Fulgent Genetics. In this episode we explore pharmacogenomics. Gregory is the Director of Genetic Counseling at Fulgent Genetics, a technology-based genetic testing company. Prior to serving as the director, Gregory served as the Genetic Counseling Manager at Fulgent, and worked in various roles for other genetic testing companies over the last 7 years including Recombine, Phosphorus, and Illumina. He completed his master of science in human genetics and genetic counseling at Stanford University School of Medicine. On This Episode We Discuss: What is pharmacogenomics? Aspects of metabolizing drugs that pharmacogenomic screening evaluates (i.e. Toxicity, Lack of Efficacy, Hypersensitivity) How pharmacogenomics testing decreases the risk of adverse drug reactions Genetic counseling for pharmacogenomics Roadblocks (ethical, social, legal, privacy) impacting widespread use of pharmacogenomic testing Picture Genetics’ PGx kit You can check out the CPIC Guidelines and the FDA Table of PGx Associations that Greg mentioned during the episode. ​​Discover if the medication you take might be affected by your genetics. See the full list of genes evaluated by Picture Genetics’ PGx test here. Learn more about Picture Genetics on their website, and follow them on LinkedIn, Twitter, Facebook, and Instagram, and keep up with our guest, Gregory Kellog, on LinkedIn. Stay tuned for the next new episode of DNA Today on March 11, 2022 where we’ll be chatting with Brian Shirts from ConnectMyVariant about the Hereditary Cancer Variant Network! In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of DNA Today. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Joining us for the last episode of rare disease month is Keith McArthur. Keith is the co-founder and CEO of CureGRIN, a non profit rare disease organization. He is also a published author and he’s a fellow science podcaster, Unlocking Bryson’s Brain (one of our favorite podcasts!). But most importantly, Keith is the loving father of Bryson, who was diagnosed with a GRIN1 related disorder. Keith McArthur got a second chance at life in 2017 when his little sister donated her kidney for transplant. Now, he writes and podcasts about his journey to becoming happier and healthier. Keith is the creator of My Instruction Manual — a website, podcast, and book series providing high-quality, personal-development content. Previously, Keith has worked as an award-winning journalist, a social media and public relations strategist, and a senior executive at one of Canada’s largest companies. He has written and edited several books, and serves as the president and publisher of FanReads Inc. His newest self-help book is Winning Resolutions: Achieve Your Biggest Goals and Wildest Dreams Once and For All. Keith’s previous book — 18 Steps to Own Your Life — was a silver medalist in the Non-Fiction-Motivational category of the 2018 Readers’ Favorite Awards. On This Episode We Discuss: GRIN1 mutations and GRIN1-related disorders Bryson’s diagnostic odyssey Connecting with other GRIN families Keith’s motivation for starting CureGRIN How the public interacts with individuals in the rare disease community GRIN1 research in mice and the “Bryson” mouse To learn more about GRIN1 research, check out GRIN Therapeutics, which focus entirely on developing potential treatments for the GRIN community. You can also head over to Homology Medicines, Inc that Keith mentioned during our recording. Keep up with Keith on Twitter, LinkedIn, and Instagram, and stay up to date on what’s happening at CureGRIN by following them on Twitter, Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today on March 4th, 2022 with Fulgent Genetics about Pharmacogenomic testing! New episodes are released on Fridays. In the meantime, you can binge over 170 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of DNA Today. In the meantime, you can learn more at BlueprintGenetics.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com.

DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira’s colleague, Dr. Pawel Buckowicz. With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas. Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children’s Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, President & CEO of the National Center for Genome Resources, and Chief Operating Officer of Molecular Staging Inc. Dr. Kingsmore’s rapid genome diagnosis was ranked as one of the top 10 medical breakthroughs of 2012 by TIME magazine, and his 26-hour genetic sequencing garnered him the Guiness World Record for the fastest genetic sequencing in the world. Dr. Marshall Summar is the Margaret O’Malley Professor of Genetic Medicine and Chief of the Division of Genetics and Metabolism at Children’s National Hospital. In addition, he launched and directs Children’s National’s first clinical Rare Disease Institute, the largest clinical division of its kind treating over 8,000 rare disease patients per year. Dr. Summar currently chairs the National Organization for Rare Disorders’ Scientific and Medical Advisory Committee as well as Co-Chairing the Research Committee for the Rare Disease Diversity Coalition. His research focuses on adapting knowledge from rare diseases to mainstream medicine. Dr. Ellen Thomas is Clinical Lead for Rare Disease and Clinical Safety Officer at Genomics England, Clinical Advisor to the Genomics Unit at NHS England and Improvement, and a Consultant in Clinical Genetics at Guy’s and St Thomas’ NHS Trust. As part of the Genomics England Science Team led by Professor Sir Mark Caulfield, she has worked on delivery of the 100,000 Genomes Project, and now focuses primarily on Genomics England’s contributions to the Genomic Medicine Service, as well as supporting the interface between research and clinical care for participants and researchers within the National Genomic Research Library. In this panel discussion moderated by Dr. Pawel Buczkowicz, leading rare disease clinicians and researchers address: The latest technological advances helping to reduce the diagnostic odyssey for patients The greatest challenges faced by patients and clinicians and methods to overcome them The role of bioinformatics in the analysis of large datasets generated from sequencing The role of rare disease diagnosis in precision medicine. Tune in for the next PhenoTips Speaker Series with our host Kira Dineen! Join us live on March 23rd from 11 am – 12:15 pm EST, for the 18th installment of PhenoTips’ Speaker Series, “Future of Hereditary Cancer Genetic Counseling”. The Future of Hereditary Cancer Genetic Counseling is a panel discussion and interactive Q & A with Jill Stopfer, Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, Jessica Corredor, Senior Genetic Counselor at the University of Texas MD Anderson Cancer Center, and Emily Nazar, Lead Cancer Genetic Counselor at Genome Medical. Register for free here. Stay tuned for the next new episode of DNA Today where we wrap up our rare disease month celebrations with Keith McArthur from Unlocking Bryson’s Brain podcast! New episodes are released on Fridays. In the meantime, you can binge over 170 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Preparing for a career in genetics? Keck Graduate Institute in Claremont, California, is a recognized leader in healthcare and biotech education and offers two master's programs ideal for those looking to impact the genetics field. The master's in human genetics and genetic counseling will train you to become an innovative, collaborative, and caring genetic counselor. The master's in human genetics and genomic data analytics will give you hands-on experience with the technologies and information revolutionizing the future of medicine. Learn more about KGI's innovative programs by visiting kgi.edu. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

In honor of Rare Disease Month we are continuing to highlight different rare diseases. This week we explore Farber Disease with Dr. Alex Solyom, Senior Vice President of Rare Disease Development at Aceragen, and Katie Crosby, is a certified genetic counselor and the Associate Director of Patient Engagement. Dr. Alex Solyom is a pediatrician with real-world expertise in rare diseases, sphingolipid biology, inflammation and pediatric rheumatology. He has over 13 years of clinical and translational research experience, with 8 years in rare disease pharma therapeutic lifecycle development. In his role at Aceragen, he is involved in the strategic planning and execution in clinical and translational research, lifecycle development, medical, scientific and patient affairs. He has been the architect of rhAC clinical development program from its inception and is responsible for clinical and translational development, medical and patient affairs, as well as medical and scientific discussions with FDA and EMA with a focus on delivering benefit to patients and other stakeholders efficiently and effectively. Katie Crosby joined Aceragen with over 8 years of experience working in clinical care and research for rare diseases. As a board-certified genetic counselor, Katie specializes in supporting patients and families to understand and navigate their genetic diagnoses.Before joining Aceragen, Katie served as a clinical genetic counselor and lysosomal storage disease program coordinator in the Rare Disease Institute at Children’s National Hospital. During her time there, she supported patients through diagnosis and long-term management as well as managed multiple clinical trials, natural history studies, and patient registries for lysosomal storage disorders, including Pompe disease, Gaucher disease, Fabry disease, MPS II, MPS IVA, MPS VII, and Farber disease. Katie also worked as a tele-medicine genetic counselor and team lead at Metis Genetics. Katie received a Bachelor of Science in biology from Villanova University and a Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai. On This Episode We Discuss: Farber disease and the larger family of lysosomal storage disorders Diagnosis and misdiagnosis of Farber disease The inheritance pattern of Farber disease and screening for the disease Available treatments for Farber disease and those in development by Aceragen Requirements for Aceragen’s no-cost genetic testing How Farber disease research can provide general information for other diseases Head over to their website Aceragen.com to learn more, including their page about Farber Disease and follow them on Twitter. If you would like to contact Aceragen directly at patientinfo@aceragen.com. Stay tuned for the next new episode of DNA Today on February 18, 2022 where we’ll be discussing advances in rare disease diagnosis! In the meantime, you can binge over 170 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Every pregnancy has a chance to have a genetic abnormality or complication. Mitera empowers you to make the most informed reproductive decisions through their at-home genetic tests, without needing your doctor’s order. These tests include non-invasive prenatal screening (Mitera’s Peaches&Me) and carrier screening (Mitera’s 23pears). Request your own kit at miteragenetics.com and use code “DNATODAY” for 10% off. Mitera. Predict. Prevent. Prepare. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) I’m involved in some entrepreneur groups in the Greater New York City area. Recently, I attended a pitch event for women entrepreneurs and was so inspired by one in particular who founded PATCH10. PATCH10 has created high quality clothing to help people look and feel their best while undergoing medical treatment. PATCH10’s unique clothing designs make accessing intravenous areas simple. 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To celebrate February as rare disease month we will be interviewing leaders in rare diseases throughout the month! In this episode we explore new research in one of the mitochondrial disorders, primary mitochondrial myopathy (PMM). Joining us for this conversation is Dr. Alejandro Dorenbaum, the Chief Medical Officer of Reneo Pharmaceuticals, who is currently studying an investigational therapy for PMM. Dr. Dorebbaum is a board-certified allergist-immunologist with over 25 years of experience in drug development and clinical trials. Prior to serving as the CMO of Reneo Pharmaceuticals, he served as the Chief Medical Officer of several other pharmaceutical companies, where he achieved proof-of-concept in clinical trials for novel therapeutic antibodies targeting inflammatory cells. He received his medical degree from the National Autonomous University in Mexico City, and completed his residency in pediatrics at the University of Texas Health Science Center and held fellowship in allergy and immunology at Baylor College of Medicine. He maintains an active academic position as Clinical Professor in Pediatrics at Stanford University School of Medicine. On This Episode We Discuss: The function of the mitochondria Challenges of living with a mitochondrial condition How primary mitochondrial myopathies (PMM) are unique How the percentage of affected mitochondria correlates with the severity of symptoms What Reneo doing to help diagnose more patients with PMM Reneo’s STRIDE study for treatment of PMM To learn more about the STRIDE study, check out the study website or search for it on Clinicialtrials.gov. Be sure to follow Alejandro on LinkedIn and Reneo Pharmaceuticals on Twitter. Stay tuned for the next new episode of DNA Today on February 11, 2022 where we’ll be discussing Farber disease with Aceragen! In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Vizgen is dedicated to pioneering the next generation of genomics, providing tools that demonstrate the possibilities of in situ single cell spatial genomics. These tools are enabling researchers to gain insight into the biological systems that govern human health and disease. Stay tuned for our full episode with Vizgen where we explore single-cell spatial genomics. Get a sneak peak by visiting their website at ​​vizgen.com. Vizgen, leaders in spatially resolved, single-cell transcriptomics (SPONSORED). Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow (SPONSORED). PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com (SPONSORED).