DNA Today: A Genetics Podcast

#85 Sarah McAnulty on Squids

Sarah McAnulty is a squid biologist and science communicator. She founded Skype A Scientist, matching classrooms with scientists for QnA sessions. Sarah is also a Ph.D. Candidate and Scientist at the University of Connecticut. She studies squids and their symbiosis with bioluminescent bacteria.On This Episode We Discuss:Skype A ScientistEffect ways to communicate scienceDifferences between squid species, which ones Sarah works withSquid research goalsThe symbiosis relationship between the squid and bacteriaSquid’s blood, microbiome, and immune systemSarah’s inspiration to pursue a squid research careerAdvice/resources for students interested researchSarah is very active on Twitter and Instagram providing squid fun facts, videos, pictures and really everything cephalopod related. She also has a Tumblr, Youtube page and website for even more information.Stay tuned for the next new episode of DNA Today on July 20th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

#84 CRISPR Bioethics

In this podcast discussion we peek into the world projected by J.D. Lasica in his new genetics thriller novel, Biohack. We consider and debate a few ethical issues that arise in the book focusing on the potential implications CRISPR has for our future.J. D. Lasica is an author, Silicon Valley entrepreneur and public speaker. He spoke at the United Nations in 2012 about how to use social media to combat global poverty, and he has given talks on four continents. His new book Biohack is a high-tech genetics thriller.Dr. Katie Hasson, is the Program Director on Genetic Justice at the Center for Genetics and Society. She was an assistant professor of sociology and gender studies at the University of Southern California. She has researched and written on reproductive technologies and women’s health.On This Episode We Discuss:The genetics thriller novel Biohack and the bioethical issues it raisesPotential scientific advances with CRISPR technologyThe bioethical implications of those advancementsWhich countries these advances are most likely to occurThe bioethical debate change between PGD embryo selection and CRISPR edited embryo, prior to in vitro fertilizationPotential restrictions on which genes can be manipulated, disease related vs physical traitsWant to delve further into the bioethics of CRISPR? Check out this article from guest Dr. Katie Hasson about designer DNA not being just for designer babies. Another interesting article that complements our discussion in the podcast is Nathaniel Comfort’s “Can We Cure Genetic Diseases Without Slipping Into Eugenics?” Intrigued by our conversation about a child having three biological parents (this is not science fiction) Leah Lowthrop wrote articles about the impact in the fertility industry and the slippery slope this technique could become. Genetics and Society has many more articles to explore!If you are one of the first ten people to sign up for JD’s J.D.’s Best of Indie email list you will receive a free copy of the “Biohack” ebook plus the Hacked Celebrity Files, a full-color PDF outlining Hollywood celebrities and historical figures targeted by the biotech company in the novel. Can’t wait to see if you have won? Buy the book on Amazon for $1 or read it for free through amazon Kindle Unlimited.Be sure to give both J.D. Lasica and Genetics and Society a follow on Twitter.Stay tuned for the next new episode of DNA Today on July 6th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

#83 Alex Ille on Alzheimer’s Disease

Alexander Ille, the Director of the Genome Cure Organization, joins me on this podcast episode. He received a Bachelors of Science from University of Waterloo and is currently a graduate student at D'Youville College, actively participating in genetic research. He also wrote a book, “The Genome Cure: The Future of Medicine for Alzheimer's, Cancer, Diabetes and more”.Alex founded the Genome Cure Organization in 2016 and is enthusiastic about genomic research and its medical implications. This mission of his organization is to push towards finding cures for a multitude of diseases through the advancement of gene therapy and gene editing.On This Episode We Discuss:Hereditary component of Alzheimer's DiseasePrevalence of Alzheimer’s Disease in the populations and how many people affectedTreatment options for people with Alzheimer’s DiseaseGenome Cure Organization’s efforts to make a difference in the Alzheimer’s DiseaseRecent research published about Alzheimer'sThe process of researching new treatments and a potential cureLength of phasesFunding requiredKey players/institutions in the researchCurrent clinical trialsWays the public can get involvedLearn more about Genome Cure Organization on their website and Instagram.Stay tuned for the next new episode of DNA Today on June 15th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

#82 Smith Family Clinic on Whole Genome Sequencing

A panel of guest from Smith Family Clinic for Genomic Medicine in Huntsville, Alabama joins me for this episode exploring the power of whole genome sequencing for patients with undiagnosed diseases.On This Episode We Discuss:Whole genome sequencing (WGS) vs exome sequencingQualifications for patient to receive WGSNext steps after a “negative WGS”Value of WGS for patients not seeking a diagnosisHero fund to help families afford testingPredictions of the future use of WGSGenetic counselors role at the clinicApproach to explain testing to patientsNext steps for an untreatable/incurable diagnosisInteresting case studiesIncidental and secondary findings from WGSDr. David Bick is a board-certified clinical geneticist and clinical molecular geneticist with over 20 years of clinical experience. He sees patients and families who are struggling with a rare undiagnosed or misdiagnosed disease, and are considering genetic testing - specifically, whole genome sequencing.Carol Aiken is a certified medical practice administrator with the Professional Association of Healthcare Office Management (PAHCOM). She has over 30 years of medical practice administration experience across multiple physician practice specialties and hospitals.Meagan Cochran is a board-certified genetic counselor with clinical experience in pediatrics, adult medicine and genomics. As one of the genetic counselors at Smith Family Clinic she works with patients and families to understand the role of genomic medicine in healthcare and help them to incorporate this new information into their decision making processes.Follow Smith Family Clinic on Twitter, Facebook, Instagram, and visit their website for more information.Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

#81 Irina Brooke on BRCA2

Irina Brooke joins me for this podcast episode. She is an patient advocate with the mission of supporting people with BRCA mutations and educating the public on this testing and how it can empower healthcare decisions.On This Episode We Discuss…Deciding to pursue genetic testing and resultsQualifications for having a strong family history of ovarian, breast and/or prostate cancerThe risk of passing on a BRCA mutation to a childMales inheriting gene mutationsGenetic counseling process and experienceCancer development risk level for people who have BRCA gene mutationsBeyond BRCA, additional gene mutations that increases one’s risk for developing cancerOptions for preventing and monitoring cancerRecovering from breast cancerSupport systems availableGetting involved in the patient advocacy communityBRCA community terms (previvor, mutantvivor, etc.)Advice to those with family history of cancer and those who have a BRCA mutationCheck out Irina’s Instagram, Facebook page, and Facebook group for women in the hereditary breast and ovarian cancer community with mutations (BRCA etc.). She also shares her journey on her website’s blog.Stay tuned for the next new episode of DNA Today on May 18th, 2018.New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

#80 Rafi Mendelsohn on DNA Quest for Adoptees

Rafi Mendelsohn is the Director of Public Relations and Social Media at MyHeritage. MyHeritage is the largest family history and DNA company that helps consumers to discover their ethnic origins and find new relatives. Their new pro bono initiative, DNA Quest, is currently helping adoptees and their birth families reunite through genetic testing, which we explore in this podcast episode. This offer is only available through the end of April 2018! Apply today for one of 15,000 free DNA kits. Learn more on MyHeritage's blog.  On This Episode We Discuss:-How the project started-Who is eligible and how to apply for this free testing-What is required for the testing-The timeline of the project-The number of people who find their biological relatives through MyHeritage-Information provided in the MyHeritage results-New updates and innovations from My Heritage Don’t forget that April 25th is DNA Day! Check out my episode all about the history of the day and other fun facts.Stay tuned for the next new episode of DNA Today on May 4th, 2018 where I will be interviewing patient advocate Irina Brook about her BRCA2 mutation and hereditary breast cancer.New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

#79 Bibaswan Ghoshal on the Human Microbiome

Joining me on this episode is Bibaswan Ghoshal. He is a Senior Bioinformatician at the Lunenfeld Tanenbaum Research Institute of Mount Sinai Health System in Toronto. He has his Master’s of Science in Medicine and finishing his PhD in Bioinformatics, Animal Microbiome and Agriculture from the University of Alberta. On this episode we discuss…The number of microbes in inside us and how they help usFactors/technology that impacted the start of this new fieldDifferences between studying the human microbiome and genomeTechniques/technologies used to study the microbiomeHuman Microbiome ProjectHealthy microbiomesFactors that affect microbiomesVariations between people’s microbiomesMicrobiome researchRole of a bioinformatics analyst in microbiome research Learn more about the microbiome through the University of Utah’s free interactive modules. You can follow Bibaswan on Twitter @bibaswanghoshal and read his blog at worldofbiba.wordpress.com. Check out the books Bibaswan recommends during the episode: Brain Maker by Dr. David Perlmutter and I Contain Multitudes by Dr. Ed Yong. Stay tuned for the next new episode of DNA Today on April 20th, 2018 where I will be interviewing Rafi Mendelsohn about a free DNA test for adoptees and biological families to be reunited. It's offered through April through MyHeritage's DNA Quest. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com

#78 Pawel Buczkowicz on Gene42

 My guest joining me for this podcast episode is Dr. Pawel Buczkowicz. He is the Chief Medical Affairs Officer and the VP of Business Development at Gene42. He received his PhD in cancer genetics and molecular pathology from the University of Toronto. His research has been published in leading medical journals such as Nature Genetics. His discovery of novel mutations in human cancers and their associated clinical correlates, have led to a new World Health Organization classification that was implemented for paediatric gliomas in early 2016. Dr. Buczkowicz is passionate about improving healthcare experiences for both the patient and doctor and believes smart and efficient software will revolutionize the way medicine is practiced.  On this episode, we discuss…Gene42’s Products: PhenoTips, PhenoTips Genomics, and OncoTipsHow clinicians/researchers use electronic health records Future of electronic health records in healthcareImportance of open-source databases Research on Diffuse Intrinsic Pontine Glioma (DIPG) You can follow Dr. Pawel Buczkowicz (@pbuczkowicz) and Gene42 (@gene42inc) on Twitter. Stay tuned for the next new episode of DNA Today on April 6th, 2018 where I will be discussing the human microbiome with Bibaswan Ghoshal! New episode are released on the first and third Fridays of the month. See what else I am up to on Twitter (@DNApodcast) , Instagram(@DNAradio), Facebook (@DNApodcast) and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

#77 Rare Disease Day 2018

February 28th, 2018 was Rare Disease Day! Rare Disease Day is an opportunity to raise awareness for 7,000+ rare diseases and the 30 million Americans who are affected by a rare disease(s). There were events held worldwide to raise awareness. The theme for this year's Rare Disease Day is "Research" and the important role that patients play in gaining an understanding of rare diseases and developing innovative treatments or cures. This year's slogan is "Patients are not only subjects but also proactive actors in research."This episode features a couple interviews with presenters, who I caught up with at the end of the Rare Disease Day event in Hartford, CT in the Legislative Office Building. This specific event is one I have attended for a few years and provides an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases, and what it’s like to live with or care for someone with a rare disease in the state. A main focus of the event was newborn screening, including the addition of Pompe Disease and Mucopolysaccharidosis Type 1 (MPS1) for Connecticut. Connecticut covers over 60 diseases, while most other states only cover ~40 diseases.  A young man named Hunter Pageau spoke about his extremely rare disease, SMARD, Spinal Muscular Atrophy with Respiratory Distress. SMARD is an aggressive respiratory/neuromuscular disease causing paralysis and inability for patients to breathe on their own. And 1 of only 12 people in the United States, and of 80 worldwide, with SMARD. Being the trailblazer he is, he started YES, the young empowerment society for kids. He is a true inspiration and leader! Going with the theme of this year’s Rare Disease Day, researchers shared how vital funding is to their research and the cascade effect initial funding can have. Stormy Chamberlain, PhD, a researcher at UCONN who focuses on Angelman Syndrome, explained how the Connecticut Stem Cell Research Fund led to NIH funding and partnerships with pharmaceutical companies such as Alexion. Presenting alongside her was Jim Kubicza, a father of a child who has Angelman Syndrome. As a fierce patient advocate, he joined the Angelman Syndrome Foundation to help raise some of this research money. He also shared some aspects of being the father of a child with a rare disease, including the burden of expensive seizure medication, full-time supervision of his son, and fighting for basic needs for his son at school. He shared more in our interview in this episode.  There was also a family with a daughter who has Dravet Syndrome. Beth Fox shared about her daughter's 250 unconscious seizures, despite trying multiple different medications, and their battles with her insurance company for coverage. In a cute moment, her daughter joined her at the podium, excited to introduce herself. Jean Kelley also spoke as a patient advocate. Her son Brian has a rare neurological disease called Adrenoleukodystrophy (ALD) for which she started an organization, Brian’s Hope. She shares more during her interview in this episode. Senators and Representatives also spoke about their support for rare diseases including the Connecticut Rare Disease Task Force. This bipartisan group focuses on newborn screening, insurance issues, support services in school systems among other topics. It takes 2.5 billion dollars and 12 years to develop a drug, so we need to give tax credits to companies so they have incentive to come to Connecticut for their research, which then helps the state. It’s fantastic that an event like this can bring legislators into the conversation so we can take action to help families with rare diseases. For more information about Rare Disease please visit NORD’s rarediseases.org and check out the other episodes about rare diseases including previous Rare Disease Days.

#76 Amy Sturm on Cardiac Genetic Counseling

To raise awareness for February Heart Month, I am joined by Amy Sturm, a cardiovascular genetic counselor. She has 15 years of experience in cardiovascular genetics, personalized genomics, research, and education. Amy is the Director of Cardiovascular Genomic Counseling and Professor at Geisinger Health System's Genomic Medicine Institute. There she provides leadership for the scaling up of genomic counseling efforts in the MyCode Community Health Initiative. She serves as the President-elect and the Cardiovascular Genetics Expert at National Society of Genetic Counselors (NSGC). Amy also works with The Familial Hypercholesterolemia Foundation and The Sudden Arrhythmia Death Syndromes (SADS) Foundation on their important advocacy work, research, and medical education programs.  On this episode, we discuss…..Roles of a cardiovascular genetic counselorInherited cardiovascular diseasesFamilial HypercholesterolemiaLong QT SyndromeRed flags for an inherited cardiovascular disorder in a family historyGenetic testing including the cascade screening methodPreventative treatments for patients with a positive testingImportance of testing childrenNotifying at-risk relatives of patients  To learn more from Amy, follow her on Twitter and read a few of her blog posts below: Am I at Risk for Heart Disease?Familial Hypercholesterolemia: The Common, Inherited Cause of Heart Disease Rarely Talked About Curious about the patient perspective in cardiac genetic testing process with a genetic counselor? One of her patients also wrote about his genetic testing experience guided by Amy. Stay updated on new episodes and activities of DNA Today via Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.