DNA Today: A Genetics Podcast

#171 Farber Disease with Aceragen

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 AceragenRequirements for Aceragen’s no-cost genetic testingHow Farber disease research can provide general information for other diseasesHead 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. They eliminate the need to change into a hospital gown (which let’s be honest, no one likes) and can be worn before, during and after treatment. Use code “DNAToday” at checkout for 10% off at PATCH10.com. (SPONSORED)

#170 Mitochondrial Disorders with Alejandro Dorenbaum

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 mitochondriaChallenges of living with a mitochondrial conditionHow primary mitochondrial myopathies (PMM) are uniqueHow the percentage of affected mitochondria correlates with the severity of symptomsWhat Reneo doing to help diagnose more patients with PMMReneo’s STRIDE study for treatment of PMMTo 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).

#169 Cytogenomics with Phase Genomics

On this week’s episode of DNA Today, we are joined by 2 scientists from Phase Genomics. Dr. Ivan Liachko is the Founder and CEO of Phase Genomics and has worked in the genetic/genomic research field for over 20 years. He has authored over 20 peer reviewed papers and created multiple patents specializing in the field of microbial genomics and synthetic biology. Dr. Liachko is one of the original inventors of the Hi-C assembly and metagenomic deconvolution and has over a decade of experience in scientific management and mentorship. He received his PhD from Cornell University.Our other guest is Dr. Stephen Eacker, VP of Research and Development for Phase Genomics, who is also a lifelong scientist. Prior to starting his role as VP, he served as a Senior Research Scientist and was part of the faculty at Johns Hopkins University where he was the Principal Investigator of a laboratory focused on using the ribosome as a platform for understanding neurobiology. He received his PhD from the University of Washington in Genome Sciences/Genomics. On This Episode We Discuss:Next generation cytogenomic technologies like CytoTerra and OncoTerraWhy ultra-long-range sequencing is advantageous compared to other approachesTypes of chromosomal abnormalities that can be identified with this technologyIdentifying genetic changes that lead to pregnancy losses and how identifying these changes can help with future pregnanciesHow researchers can get early access to CytoTerraInterested in today’s episode topic? Watch this webinar from Phase Genomics about next generation cytogenomics for reproductive genetics and oncology, and read this press release about Phase Genomics’ new platform to detect chromosomal abnormalities. To learn more about Phase Genomics, be sure to follow them on Twitter, Facebook, LinkedIn and Instagram and keep up with our guests, Dr. Ivan Liachko on Twitter and LinkedIn, and Dr. Steve Eacker on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on February 4, 2022 where we’ll be discussing mitochondrial disorders to kick off rare disease month! In the meantime, you can binge over 165 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. Aceragen is a rare disease biopharmaceutical company. Aceragen takes on rare, orphan diseases that typically have no approved treatments, and works to develop therapies to help patients. The needs of patients who suffer from under-served rare diseases drive Aceragen’s mission. Be sure to tune into our episode with Aceragen in February as we celebrate rare disease month! Learn more at aceragen.com. Aceragen working for a better life for patients with rare diseases. (SPONSORED)PerkinElmer Genomics is a state-of-the-art biochemical and molecular genetics laboratory that provides newborn screening and genomic testing services around the world. With over seven million newborns screened since 1994, PerkinElmer Genomics’ laboratory pairs decades of newborn screening experience with a leading-edge clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Learn more at PerkinElmerGenomics.com. (SPONSORED)Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.com. (SPONSORED)

#168 Polygenic Risk Scores with Giordano Bottà

Enter a giveaway on our social media! Win free enrollment to a 3-hour course in the Allelica PRS clinical academy covering the research behind PRS to clinical applications. You can enter by looking for us on Twitter, LinkedIn, and Instagram. This has been posted at 9am on January 21st and will end on February 4th. Our guest this week is Giordano Bottà, a biologist and bioinformatician, who is joining us to discuss polygenic risk scores. Giordano earned a PhD in Public Health and he has extensive experience in analysis of large genomics dataset. During his career he has had the opportunity to work with some of the top genomics experts in the world at the University of Oxford, publishing in the journal Nature. He is a co-founder and CEO of Allelica, which created a software to help clinical genetics labs to perform polygenic risk score analysis.On This Episode We Discuss:Defining polygenic risk scores (PRS)? How PRSs are empowering the next generation of clinical genomics Types of conditions that PRS can be calculated forWho can benefit the most from PRSsHow Allelica is addressing the underrepresentation of people of Non-European descent in genetic studies with PRSUsing PRS to assess risk for heart disease and cancerTo learn more about Giordano, check him out on Twitter, LinkedIn and Instagram, and stay up to date with Allelica on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on January 28, 2022 where we’ll be discussing cytogenomics! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 and 2022 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.Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.org. (SPONSORED)Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are closing for the spring cohort, but there are still spots available for summer and fall 2022. (SPONSORED)PerkinElmer Genomics is a state-of-the-art biochemical and molecular genetics laboratory that provides newborn screening and genomic testing services around the world. With over seven million newborns screened since 1994, PerkinElmer Genomics’ laboratory pairs decades of newborn screening experience with a leading-edge clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Learn more at PerkinElmerGenomics.com (SPONSORED)

#167 PhenoTips: Future of Cancer Genetics

DNA Today’s host Kira Dineen is also the host 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, “The Future of Cancer Genetics”.Thanks to advancements in genome sequencing, physicians are equipped with improved knowledge on the causes of cancer, as well as alternative treatment options for specific cancers. Despite this growing wealth of cancer genomics data, experts remain unclear on how to translate cancer genetics knowledge into realizing precision medicine. To prepare practitioners for the future of cancer genetics, PhenoTips invited Dr. Banu Arun and Dr. Mark Robson to share their insights.Dr. Arun is a Professor in the Department of Breast Medical Oncology, Co-Medical Director of the Clinical Cancer Genetic Program, and Section Chief of Breast Genetics, Prevention, and Screening at the University of Texas MD Anderson Cancer Center. Hailed by Forbes as one of the top 30 Breast Medical Oncologists in the United States, she has received the FASCO award recognition in 2020 from the American Society of Clinical Oncology (ASCO) and the ASCO-American Cancer Society 2021 Award. Dr. Arun has more than 200 peer-reviewed publications with research focusing on identifying risk biomarkers for breast cancer, and characterizing risk factors in high-risk women with hereditary gene mutations as well as assessing their breast cancer biology. In addition she has reviewed for prestigious journals, such as BMJ, JCO, Cancer, Cancer Prevention and Epidemiology, and served in several committees including her current position as the Co-Chair for the SWOG Prevention and Epidemiology Committee.Dr. Robson is the Chief of the Breast Medicine Service in the Department of Medicine at Memorial Hospital, New York, Attending Physician on Breast Medicine and Clinical Genetic Services, and a Member of the Memorial Sloan Kettering Cancer Center. He is an associate editor for the Journal of the National Cancer Institute and a Fellow of the American Society of Clinical Oncology (ASCO), as well as a past chair of the ASCO Ethics Committee. His clinical research is on the optimal application of germline information to the management of cancer patients. He has been a lead investigator for trials of PARP inhibitors in patients with BRCA mutation–associated breast cancer and is currently developing new models for the acquisition of germline information, including "mainstreaming" through test ordering by primary oncology providers and broad genomic screening in the context of somatic mutational profiling. In addition, he is investigating the use of polygenic risk scores in facilitating decision-making among women with or without an inherited predisposition.In this webinar moderated by Kira Dineen, Dr. Arun and Dr. Robson will illuminate the future of cancer genetics by discussing:The latest technological advancements in cancer genetics.Barriers in the specialty and methods to overcome them.Strategies to prepare practitioners for the future of cancer genetic care.Hope to see you live for the next installment of Phenotips Speaker Series on January 18th about ending the diagnostic odyssey! PhenoTips' Chief Operating Officer and VP of Scientific & Medical Affairs, Dr. Pawel Buczkowicz, will be speaking with Dr. Ana Cohen, Clinical/Research Assistant Director of the Molecular Genetics Laboratory at Children's Mercy's Center for Pediatric Genomic Medicine. Register here for the live event on January 18th at 11am-12pmEST. Stay tuned for the next new episode of DNA Today on January 21st, 2022 with Allelica’s Giordano Bottà to discuss polygenic risk scores! New episodes are released on Fridays. In the meantime, you can binge over 165 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.Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.com. (SPONSORED)Did you know that most cancer samples cannot be subjected to some of the most common cytogenetic analyses due to their storage in formalin and other intractable storage conditions? Don’t let difficult sample types and convoluted assay cascades get in the way of your research! Phase Genomics has developed a brand new Next Generation Cytogenomics platform to advance discovery in reproductive genetics and precision oncology. A single assay has the ability to do comprehensive testing for chromosomal abnormalities in fresh, frozen, AND even paraffin-embedded FFPE samples. Learn more about Phase Genomics’ incredible new platform in cytogenomics by visiting PhaseGenomics.com. You can also hear our in depth interview with them on episode 169 of DNA Today which will be released on January 28th. (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)Are you a genetic counselor or genetic counseling student? Join me in participating in a research study surrounding education on gender-affirming care in genetic counseling. This study is from the University of Michigan Genetic Counseling Program. It requires a pre and post test survey along with an online 2-3 hour educational tool. I just got access to the modules and am looking forward to learning this week! And here’s a bonus: you are entered to win one of 10 $50 gift cards! Complete the survey here . (SPONSORED).

#166 Beta Thalassemia with Radhika Sawh

Spotify just released a new feature, the ability for listeners to rate podcasts. If you’ve enjoyed the podcast PLEASE rate on Spotify! This is how new listeners will find and enjoy the show. In order to rate you need to use the Spotify app and listen to at least 30 seconds of the podcast. Under the logo you will see “No Rating”, click on that and give us 5 stars. Since this is a brand new Spotify feature rating now will help us rank higher among science podcasts! We also wanted to give a shoutout for a Twitter Spaces conversation Dena Goldberg (Dena DNA) and Kira Dineen co-hosted this past Monday. A bunch of genetic counselors and genetic experts joined us in the live discussion about the NY Times article that was featured on the front page this week. The recorded audio is not top quality, which is why we didn’t release it as a podcast episode, however the conversation is top quality. To kick off 2022 and celebrate national Blood Donor Month, genetic counselor Radhika Sawh joins our host Kira Dineen on the podcast to discuss beta thalassemia. Radhika is a genetic counselor and patient advocate for thalassemias. She worked as the National Director of Patient Services for the Cooley's Anemia Foundation prior to joining the faculty of the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College (where she met our host Kira Dineen!) Radhika has a personal tie to the community as she has beta thalassemia major and frequently speaks on behalf of the New York Blood Center as a volunteer blood donor advocate. On This Episode We Discuss:Types of thalassemias How beta thalassemia has impacted Radhika’s lifeThe evolution of treatments for beta thalassemia and their impact on life expectancy for those with the conditionThe genetic difference between sickle cell and beta thalassemia What Radhika wants genetic counselors and other healthcare providers to understand about the experience of living with beta thalassemiaThe importance of blood donation and requirements to be a donorLearn more about thalassemia in Radhika Sawh’s 2021 paper, “Transfer of care for people with severe forms of thalassemia: Learning from past experiences to create a transition plan” and check her out on LinkedIn.Stay tuned for the next new episode of DNA Today on January 14th where we’ll be discussing the future of cancer genetics! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 and 2022 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. Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are now being reviewed for the Spring 2022 cohort starting January 31st, and a limited number of spots are still available. (SPONSORED)Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com. (SPONSORED)Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)

#165 Sequencing for Cancer Risk with Sandra Balladares

In this week’s episode, our host, Kira Dineen, is joined by Dr. Sandra Balladares to explore utilizing sequencing to assess inherited cancer risk.On This Episode We Discuss:Sandra’s personal experience with breast cancer The difference between Sanger Sequencing and Next Generation SequencingSequencing versus genotypingVarious number of genes on a hereditary cancer panelHow the availability and accessibility of genetic testing differ around the worldDr. Balladares is currently the HLA Typing Franchise Leader at Thermo Fisher Scientific. She formerly held positions at Illumina, most recently as Staff Segment Marketing Manager Oncology. Sandra holds a Ph.D. in molecular biomedicine, is a mother of two young children, and breast cancer survivor who advocates for genetic testing in developing countries and among ethnic minorities.Learn more about Sandra by reading this Illumina article about her journey, or check her out on LinkedIn. Did today’s episode topic peak your interest? Read the article, Inherited Cancer in the Age of Next-Generation Sequencing, that inspired our questions!Stay tuned for the next episode of DNA Today in the new year on January 7th, 2022! We’ll be joined by genetic counselor and patient advocate Radhika Sawh to discuss Thalassemia and blood donor awareness. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 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. Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com. (SPONSORED)Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific’s Aspire program, it’s a rewards program created with scientists, like you, in mind. All members receive a free full size trial product every year. Points are earned every time you use or purchase products. Rewards include science themed apparel like a zip up DNA hoodie! Check it out at ThermoFisher.com/aspire-DNAtoday and for a limited time receive 500 bonus points. ThermoFisher Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED)Have you heard of the new app Wisdom? It’s a social audio app for open access to mentorship. You can talk live with experts about anything. Our host, Kira Dineen, will be giving her first wisdom talk on January 5th at 5:30pmET / 2:30pmPT. You can tune in live by downloading the Wisdom app, then following me @DNAtoday. That way when she goes live on January 5th you will get a notification and can jump in. Podcasts can be very one way, whereas Wisdom allows us to chat. She wants to answer your questions about genetics, genetic counseling including grad school, or the podcast. It will be a live QnA! We can’t wait to talk to you then! (SPONSORED)

#164 Parkinson’s Disease with the Parkinson’s Foundation

This week our host, Kira Dineen, is joined by Dr. James Beck and Dr. Ignacio Mata to discuss Parkinson’s Disease and diversity in genetic Parkinson’s research. On This Episode We Discuss:How Parkinson’s Disease (PD) affects the bodyGenes that play a role in the development of PD Genetic testing for family members of patients with PDThe PD GENEration project and how it is helping people with PDUnderrepresentation of Hispanic people in PD genetic research How to achieve more inclusivity with research in the PD spaceLearn more through the “Substantial Matters: Life and Science of Parkinson’s” podcast. Here is a list of episodes specifically about the PD GENEration study we have been discussing. Check out more about the PD GENEration on the Parkinson’s Foundations website, including how to enroll in the study. If you have questions about enrollment send them to genetics@parkinson.org.PD GENEration también ofrece pruebas genéticas y asesoramiento en Español. Para más información visite http://parkinson.org/pdgeneTo stay up to date on the latest PD news and research follow The Parkinson’s Foundation on Twitter, Facebook, LinkedIn, and Instagram. And be sure to check out Dr. Beck’s, and Dr. Mata’s on Twitter!Dr. James Beck is the Senior Vice President and Chief Scientific Officer at The Parkinson's Foundation. In his role, Dr. Beck sets the strategic direction for the Parkinson’s Foundation research vision, and oversees a portfolio which has guided more than $360 million in research to explore what causes Parkinson’s disease (PD) and how to improve treatments, and he has played an integral role in positioning the organization as a world’s leader in accelerating Parkinson’s research. He is currently an Adjunct Associate Professor in the Department of Neuroscience and Physiology at the New York University School of Medicine. He holds a BS from Duke University and a PhD from the University of Washington, Seattle. Dr. Ignacio Mata is a member of the Parkinson’s Foundation Hispanic Parkinson's Advisory Council, which develops strategies to increase clinical research education, awareness and participation among Hispanic people with Parkinson’s throughout the United States. He is also an Assistant Professor of Molecular Medicine at the Cleveland Clinic Lerner College of Medicine. He received his BSc and PhD degrees from the University of Oviedo, Spain. His current research focuses on the identification of genetic risk factors for several quantitative traits involved in cognitive impairment in PD and the identification of novel genes causing familial forms of PD.Stay tuned for the next new episode of DNA Today on December 17, 2021 where we’ll be discussing sequencing to assess inherited cancer risk! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. 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. Did you know genetic changes account for an estimated 5-10% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics offers Picture PD Aware, an at-home DNA test for Parkinson’s disease risk. Powered by clinical laboratory Fulgent Genetics, Picture PD Aware 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 PD Aware kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow (SPONSORED).Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com. (SPONSORED)

#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome

On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome. On This Episode We Discuss:Genetic causes of Prader-Willi Syndrome (PWS)Challenges faced by caregivers of patients with PWSPWS symptom management Harmony Bioscience’s phase 2 clinical study in PWSRequirements for study participationCheck out some commonly asked questions and additional caregiver perspectives on Prader-Willi, and follow Rachel on Instagram to stay up to date on her journey.Refer your patients to Knowrare to join the study here. Stay tuned for the next new episode of DNA Today on December 3rd where we will be interviewing two experts from the Parkinson’s Foundation on diversity in Parkinson’s research! New episodes are released on the first and third Friday of the month (with some bonus episodes). In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. 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. Rachel Pastiloff is a mom of 2, who lives in southern California. She’s active on Instagram, teaching hard, cold facts of living with a child with a rare disease and she is passionate about advocating for her 15 year old son, Blaise, with Prader-Willi Syndrome and the entire family’s wellbeing.Krystle Davis is the senior manager of clinical operations at Harmony Biosciences where she oversees the execution of clinical operations of a phase 2 clinical trial in Prader-Willi syndrome. Krystle has over 12 years of combined experience working in the biotechnology, pharmaceutical, and clinical research industries and she enjoys working in clinical research, knowing her work may make a difference in someone’s life. She completed her Bachelor of Science in Biology at Meredith College and a Master of Science focused in Clinical Research at Campbell University.Understanding how our DNA contributes to disease risk is no longer science fiction. Polygenic Risk Scores add up the effects of thousands or even millions of genetic variants spread across the genome. We can use PRS to assess how a person’s DNA influences their risk of common diseases.Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems, clinical laboratories and research institutes can be equipped with Allelica’s cutting-edge tools to deploy PRS to identify more people at high risk to reduce the impact of common diseases. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)Want to chat with genetic counselors? You should attend the virtual open house at Sarah Lawrence College! In this you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The open house is on December 7th. Go to SLC.edu/DNAtoday, or use the links in the show notes, to sign up for the free genetic counseling open houses. See you there! (SPONSORED)Do you work in cytogenetics? Thinking about applying to new jobs? Well I found a great position for you at UNC Health. In this Senior Cytogenetic Technologist position you will join a team of 20 fellow technologists and specialists. The Cytogenetics Lab at UNC Health performs prenatal, postnatal, and cancer cytogenetic testing on about 5,000 cases every year and you have the opportunity to perform conventional cytogenetics, FISH and microarray testing. To learn more about the position and submit your application, use the link in our show notes. You can also access the link at DNApodcast.com. (SPONSORED)

#162 PhenoTips: Future of Genetic Counseling

DNA Today’s host Kira Dineen is also the host 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, “The Future of Genetic Counseling”.This episode features Past President of the National Society of Genetic Counselors, Amy Sturm, and Past President of the American Board of Genetic Counseling, Erynn Gordon. Amy and Erynn draw on their decades of experience in genetic counseling to prepare for the fast approaching future of genetic counseling. As genomics become common practice in mainstream healthcare, clinical genetics is expected to expand from focusing on rare diseases to common and preventable and/or treatable conditions. While the details and timeframe of this transition is unknown, it is clear that genetic counselors are poised to champion this change and transformation. To prepare for this fast approaching future, PhenoTips invited Amy Sturm and Erynn Gordon to share their experience-based insights.Erynn Gordon is currently the Founder and President of Ripple Genetics Consulting, with prior VP and Presidency roles at Genome Medical, 23andMe, and the Coriell Personalized Medicine Collaborative. With 20 years of experience, Erynn has been deeply engaged in the genetic counseling community, having served as past president of the American Board of Genetic Counseling and on the Board of Directors for the National Society of Genetic Counselors.Amy Sturm is a Genetic Counselor and Professor within the Genomic Medicine Institute at Geisinger with nearly 20 years of experience in the field of genetic counseling. Amy was the 2019 President of the National Society of Genetic Counselors, and currently serves as the Chair of the Advisory Board to the NIH All of Us Research Program’s Genetic Counseling Resource and Co-Chair of the NLA Genetics Working Group. In addition, she is on the NLA Scientific Statements Committee and the American Heart Association’s Advocacy Coordinating Committee and Genomic and Precision Medicine Leadership Committee of the Council on Genomic and Precision Medicine.In this discussion with Kira Dineen, Amy Sturm, and Erynn Gordon will draw on their experiences to provide insights on:Historic and current uses of technology in genetic counsellingFuture applications of technology that can shape the practice of genetic counsellingThe role population genetics will play in precision medicineChallenges and barriers to mainstream integration of genetic counsellingThe themes covered in this Speaker Series session were inspired by the Laura Hercher 2020 paper, “Pondering the future of genetic counseling: An adolescent field comes of age”.As an amendment to the chatbots portions of the panel discussion, Amy Sturm would like to clarify that her collaborations with Clear Genetics began in 2017. During the discussion, she misspoke and stated that chatbots have been around since 2007.Stay tuned for the next new episode of DNA Today on November 19th where we learn about Prader-Willi Syndrome. New episodes are released on the first and third Friday of the month, with some bonus episodes. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. 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. Polygenic Risk Scores are no longer science fiction. Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems and clinical laboratories can be equipped with Allelica’s cutting-edge tools to reduce the impact of common disease through genomic medicine. Allelica's Polygenic Risk Scores for common diseases have the highest predictive power on the market. This allows physicians to more effectively help patients lower their risk of life-threatening diseases. Learn more at Allelica.com. Empowering the next generation of clinical genomics. (SPONSORED)Want to chat with genetic counselors? You should attend the virtual open houses at Sarah Lawrence College! In these events you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The next open house is on December 7th. Go to SLC.edu/DNAtoday to sign up for the free genetic counseling open houses. See you there! (SPONSORED) Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday. Again that’s kgi.edu/dnatoday. (SPONSORED)Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Check out their website to learn more about the clinical study and refer a patient to a study center. (SPONSORED)For centuries, humanity has imagined a magical fountain that could unlock eternal youth. New scientific advances suggest this might actually be a reality in the not-too-distant future. Journalist Keith McArthur explores the mysteries of aging in “Unlocking The Fountain” from CBC Podcasts, where you’ll meet dreamers, skeptics and cutting edge scientists, including those who believe that the first person who will live to 150 years old has already been born. Keith McArthur hosted “Unlocking Bryson’s Brain”, which we recommended last year, and now you can tune into his brand new podcast! We have already binged all the episodes released so far. Join us in listening to “Unlocking The Foundation” everywhere you get your podcasts. (SPONSORED)