Podcasts about applied genomics

This week, we welcome Lori Orlando, Associate Professor of Medicine and Director of the Precision Medicine Program in the Center for Applied Genomics and Precision Medicine at Duke University. Lori discusses her work as a health services researcher, the MeTree family health history platform, and how she and her team are working to develop a sustainable model for bringing genomic medicine into primary care.

This week Bridging Philly highlights a motivational speaker and transformational life coach and his efforts in helping youth become empowered, boost their confidence, and value their lives. South Philly native Maxwell Brown shares his story of years in incarceration and his teenage decisions to demonstrate how thinking controls actions, behaviors, and outcomes through his workshop and programs. The Bridging Philly Newsmaker highlights Children's Hospital of Philadelphia researchers and their efforts in developing an algorithm to help define differences between ADHD symptoms from other conditions. We speak with Dr. Hakon Hakonarson, the director of the Center for Applied Genomics at CHOP. Dr. Hakonarson believes this new tool will lead to more precise clinical trials and better treatments. To learn more about listener data and our privacy practices visit: https://www.audacyinc.com/privacy-policy Learn more about your ad choices. Visit https://podcastchoices.com/adchoices

In this episode, I speak with a national thought-leader on community driven AI and the Metaverse with Dr. Hadley.Dr. Hadley's expertise is in translating big data into precision medicine and digital health. He earned his PhD in genomics and computational biology while at medical school at university of Pennsylvania and he trained in clinical pathology while in residency at Stanford University. His research generates, annotates, and ultimately reasons over large multi-modal data stores to develop clinical intelligence, identify novel biomarkers and potential therapeutics for disease.His early work at the Center for Applied Genomics at The Children's Hospital of Philadelphia resulted in a successful precision medicine clinical trial for ADHD (ClinicalTrials.gov Identifier: NCT02286817) for a first-in-class, non-stimulant neuromodulator to be targeted across the neuropsychiatric disease spectrum. As an early principal investigator at the University of California San Francisco, his laboratory was funded by the NIH Big Data to Knowledge initiative to develop the stargeo.org as an open curation resource to discover the functional genes and biological pathways that are defective in disease.He went on to develop National Institute of Health-funded models of curation for clinical applications of digital health to more precisely screen, diagnose, and manage disease. He was repeatedly recognized by University of California San Francisco with various awards including the inaugural Marcus Award for Precision Medicine to develop a digital learning health system to use smartphones to screen for skin cancer as well as a pilot award in precision imaging to better screen mammograms for invasive breast cancer.https://www.hadleylab.org/

Dawn Barry is the president and co-founder of LunaPBC, which is the public benefit corporation that launched LunaDNA, the first DNA and health research platform owned by its community of data donors. LunaDNA's member-owned digital data-sharing community makes discovery representative of the real world and aligned with people's true goals by giving all individuals a role in research. Previously, Dawn joined Illumina in 2005 and served as the Vice President of Applied Genomics. Prior to Illumina, Dawn worked at Genaissance Pharmaceuticals, one of the first genomics startups focused on personalized medicine. In this episode, Dawn shares lessons learned in her career in biotech, how she built LunaDNA with its innovative shared ownership structure, and her perspectives on the future of data sharing and the applications of genomics in medicine. --- Support this podcast: https://anchor.fm/theia-hc/support

Today my guest is Molecular Biology PhD, Dr Tian Yu What we discuss with Dr Yu: Growing up in China, and moving to the US Studying cell biology and molecular biology How she discovered pathology, and how it related to her work in molecular biology Next generation sequencing and how it is used Spatial biology and the tumor micro-environment Her work at Truckee Applied Genomics and some of their products Her thoughts on the future of molecular pathology Links for this episode: Health Podcast Network  LabVine Learning The ConfLab from LabVine Dress A Med scrubs Join the LabVine Team   Dr Tian Yu on Twitter Truckee Applied Genomics A Place for Everything in Spatial Biology from The Pathologist   People of Pathology Podcast: Website Twitter

“Making Illness optional?” I want to address the provocative title of today's podcast head on because it's not just clickbait. It is the genuine ambition of my next 2 guests on the show.Momo Vuyisich is co-founder and Chief Science Officer at Viome who provides scientific leadership and his vision is to revolutionize healthcare from "symptoms management" to true preventative medicine. He leads product development, clinical test implementation, and their comprehensive clinical research portfolio. Momo is also an Adjunct Professor at the University of New Mexico and New Mexico Tech. Before co-founding Viome in 2016, Momo spent 12 years at Los Alamos National Laboratory, where he led the Applied Genomics team, which developed the core technology used by Viome today.Naveen is quite frankly one of the most energising and inspiring billionaire entrepreneurs of our time. An intensely curious personality who believes that the energy of an obsessed entrepreneur infused with innovative technologies can create crazy ideas that push humanity forward. He is the author of the award-winning book ‘Moonshots - Creating a World of Abundance.' And his current moonshot adventures are Moon Express and Viome.Moon Express is the only company globally with permission to harvest resources from the moon—developing the infrastructure needed to push humanity forward towards a true multi-planetary society.He is vice-chairman of the board at Singularity University, and Naveen focuses on educating and inspiring leaders to address humanity's greatest challenges by using and developing innovative technologies. He has many accolades including the “Humanitarian Innovation Award” from the United Nations.Viome has a mission is to “make illness optional.” By building an AI-driven platform that analyses the interaction between food, our microbiome, and our human cells, Viome is able to develop precision nutrition to prevent and reverse chronic diseases. Rather than another gut health or nutrigenomics testing product, Viome is a data-driven precision nutrition company. Today we chat about:Momo's personal health journey with idiopathic arthritisNaveen's moonshotsThe limitations of DNA reviewsViome Research Institute making the tech available for more peopleDifferent types of omicsThe gut as a series of chemical reactions and food as an addition to these reactionsPredictive as well as preventative medicine This episode is not branded or sponsored in any way by Viome or today's guests.Please visit The Doctor's Kitchen website for full show notes and social media links for this and all other episodes See acast.com/privacy for privacy and opt-out information.

Dr. Mansoor is the President and CSO of The DNA Company, a leading and innovative provider of comprehensive Functional Genomics testing, consulting, and personalized health solutions. Dr. Mansoor is widely regarded as a pioneer in medical genomics and has been the recipient of multiple academic and industry awards. He is the holder of several patents in the general fields of molecular diagnostics and genomics research and is one of the most sought-after national and international conference speakers in the genre of personalized medicine. Dr. Mansoor maintains an active clinical practice as a genomics consultant to some of the leading executive health clinics in Canada and abroad. Dr. Mohammed has served on the Canadian Board of Autistic Research and is a consultant to the world-renowned Toronto Center of Applied Genomics. He is also the Genomicist-in Residence for the Autism Hope Alliance. See the full blog post and transcription here: www.mychildwillthrive.com/vitamin-d-how-genetics-impact-deficiencie

Our hormones affect almost every aspect of your body. Mood, metabolism and many physical processes are all governed by hormones. However, you might not recognise just how unique you are genetically. Our genetic profile and predisposition to certain hormones impact our daily lives more than we think it does. Learning more about ourselves can drastically improve our quality of life and allow us to make informed and empowered decisions. Dr Mansoor Mohammed joins us in this episode to explain the importance of understanding our genetic predisposition and the hormone cascade. He also talks about women's hormones. Finally, he explains why we should take our genetic profile into account before experimenting with pharmaceutical treatments and different types of therapy. If you want to know more about the science behind your genetics and hormones, this episode is for you. Hormone Report with The DNA Company If you would like to have your hormone test done, understand your genetics in regards to your hormones and would like to then have these interpreted by Lisa, please go to this link to get the test done. Lisa will then contact you once the DNA has been processed to have a consultation. Please note the consultation will take an hour and will cost $190, which is extra to the actual report. The Report can be purchased here: https://www.mydnacompany.com/products/lisa-tamati-and-the-dna-company-female-hormone-profile Please note The DNA Company is based in Canada and this price is in Canadian dollars. It may take up to 6 weeks depending on where you are located in the world for your results to get back to you. For any questions, please email lisa@lisatamati.com.   Get Customised Guidance for Your Genetic Make-Up For our epigenetics health program all about optimising your fitness, lifestyle, nutrition and mind performance to your particular genes, go to  https://www.lisatamati.com/page/epigenetics-and-health-coaching/. You can also join our free live webinar on epigenetics. Online Coaching for Runners Go to www.runninghotcoaching.com for our online run training coaching. Consult with Me If you would like to work with me one to one on anything from your mindset, to head injuries,  to biohacking your health, to optimal performance or executive coaching, please book a consultation here: https://shop.lisatamati.com/collections/consultations Order My Books My latest book Relentless chronicles the inspiring journey about how my mother and I defied the odds after an aneurysm left my mum Isobel with massive brain damage at age 74. The medical professionals told me there was absolutely no hope of any quality of life again, but I used every mindset tool, years of research and incredible tenacity to prove them wrong and bring my mother back to full health within 3 years. Get your copy here: http://relentlessbook.lisatamati.com/ For my other two best-selling books Running Hot and Running to Extremes chronicling my ultrarunning adventures and expeditions all around the world, go to https://shop.lisatamati.com/collections/books.   Here are three reasons why you should listen to the full episode: Understand why it is essential to learn about the nuances of the menstrual cycle.  Discover your individuality as a person going through hormonal cascades. Learn more about the effect of estrogen and why being on the pill fundamentally changes you up to the cellular level. Resources Your DNA Company Female Hormone Profile Report In the FLO by Alisa Vitti The DNA Company The DNA Company on Facebook Episode Highlights [06:47] The Journey Going Through Hormones Menarche is the first menstrual cycle, which is when a female enters young womanhood. After menarche comes pre-menopause, perimenopause and then post-menopause. Our sex hormones are fundamental at a holistic, physiological and phenotypic level, as they affect functions at the cellular level. Hormones have a circadian nature, which affects metabolism, oxidative stress and other physiological processes. Some of the top female athletes in the world are still unaware of their menstrual cycles’ health and how it affects them. The phases of the menstrual cycle and variety of hormones affect ligament flexibility, likelihood of injury and exercise response, among others. [12:45] The Circadian Rhythm of Hormones The nuances of your hormonal circadian rhythm rely heavily upon your genetic predisposition. Women have different mental, emotional and physical responses, depending on where they are in their cycle. We should focus on the individuality of women when it comes to the genetic traits of their hormonal circadian rhythms. Females need to listen to their bodies and be wary of one-size-fits-all approaches to hormones such as birth control. The pill can either be a saving grace or bring complications. [18:39] Understanding Hormones, Treatment and Therapies Even without the extremes such as hormonally-related cancers, daily issues such as migraines, fatigue, weight gain, and nutrient deficiencies can occur. Knowing your innate tendencies is essential to feeling healthy and optimal. Most women enter womanhood without clearly understanding their innate patterns. This lack of understanding forces them to accept the routine or resort to pharmaceutical treatment. Symptoms of what was thought of as supposedly lyme disease and other complications vanish when women enter pregnancy. Some hydroxy-dominant women have a genetic predisposition to inflammation and oxidative stress due to hormones, regardless of their diet. [29:44] Estrogen and Testosterone Estrogen is essentially aromatised testosterone. Four hydroxy estrogen metabolites in men contribute to prostate enlargement, leading to inflammation. Men who have a genetic predisposition to aggressively convert estrogen into metabolites are more likely to experience benign prostatic hyperplasia. Both men and women will benefit from understanding their tendencies when it comes to converting metabolites. [35:57] Athleticism, Menstrual Health and Birth Control Some women can eat the same food and do the same exercises but can never achieve the same musculature. World-class athletes need to understand their monthly cycle thoroughly to be in an optimal state. Being on the pill makes you estrogenised for 21 days instead of the usual five days, which can be wonderful or detrimental for you depending on your genetic makeup. Estrogen binding to its receptors radically changes gene expression. Being on the pill fundamentally changes you on a cellular level. The pill can be right or wrong for you; taking it is not a trivial matter. Women aren't designed to be estrogenised continuously in the long-term, as it affects mitochondrial efficiency. [47:46] The Effect of Having a Proclivity to Produce 4-Hydroxy and Being on the Pill Being on the pill exacerbates the effects of having a genetic predisposition to inflammatory and oxidative traits in hormones. Women who already have a disadvantageous genetic profile expose themselves to greater toxicity if they estrogenise themselves non-stop. Estrogen isn't evil, and it keeps us young. However, we have to find a balance. Listen to the full episode to understand the entire process and the chemical processes and genetic pathways involved! [53:32] The Importance of Cellular Balance Cells have other receptors, and there has to be a proper balance and circadian rhythms to have healthy processes. Optimal health comes when the presence of hormones come in optimal waves. There are many nutraceutical or nutritional intake and environmental exposures that can further slow down essential processes. An example is a glass of red wine. If you know your genetic predispositions, you can improve your quality of life. This knowledge empowers us to make choices to either live a healthier life or at least mitigate negative consequences and know our genetic limits. [1:03:57] Hormonal Implications for Men Older men can erroneously assume testosterone is the magic fix to declining sex drive and athletic performance due to aging. However, the reality is that you may have a genetic predisposition to convert testosterone into estrogen and become more estrogenised. These have implications with undergoing testosterone replacement therapy and can undermine your goals. 7 Powerful Quotes from This Episode ‘Your listeners have to understand that the way in which their bodies respond to these hormones define and contribute every aspect of cellular function’. ‘Few aspects of medicine are as boldly innately different as the nuances and the individuality of a young woman's innate genetic control of the circadian rhythm’. ‘It defines why she can eat the same foods, exercise the same as her mate, in fact, exercise more than her mate and be fit and be beautiful and be strong, but never get that cut or that sort of musculature’. ‘When you are naturally menstruating, there's only a window of about five to seven days, give or take, in your 28- or 30-day or thereabouts, where you are in your unit, but recycle that your body is actively producing estrogens. Those estrogens are actively circulating in your bloodstream. And the cells of your body are actively responding to that estrogen’. ‘It's about the balance... A healthy female cell is one that is having, it's a traffic system, and it's one that is being trafficked into it at the proper ratios at the proper circadian pulses and rhythms’. ‘If you do not know these things, you're going to be at risk of using a one size fits all approach that will be beneficial for 10%, 20%, 50% of women, but that most certainly equally can be deleterious for a group of young women, unwittingly’. ‘This is about empowerment, it is the empowerment of being informed — being informed about your unique predisposition. What is your operating manual, making your more normative choices, if you will, of these cascades? And then how do you optimise the things that you want to do and the things you don't want to do’? About Dr Mansoor Dr Mansoor Mohammed is the President and CSO of The DNA Company, a leading and innovative provider of comprehensive Functional Genomics testing, consulting and personalised health solutions. He is widely regarded as a pioneer in medical genomics and has been the recipient of multiple academic and industry awards. He is the holder of several patents in the general fields of molecular diagnostics and genomics research and is one of the most sought-after national and international conference speakers in the genre of personalised medicine. Prior to his role at The DNA Company, Dr Mansoor was also the former Founder and President of ManaGene, CEO of Combimatrix, Director of Genomics at Quest Diagnostics and Director of Research and Development at Spectral Genomics. He continuously maintains an active clinical practice as a genomics consultant to some of the leading executive health clinics in Canada and abroad, has served on the Canadian Board of Autistic Research and is a consultant to the world-renowned Toronto Center of Applied Genomics. If you want to learn more about Dr Mansoor and his work on genetics, you may visit his website. Alternatively, you can check out his Facebook and Twitter. Enjoyed This Podcast? If you did, be sure to subscribe and share it with your friends! Post a review and share it! If you enjoyed tuning in, then leave us a review. You can also share this with your family and friends so they can understand themselves more through learning about their genetic predisposition and hormones. Have any questions? You can contact me through email (support@lisatamati.com) or find me on Facebook, Twitter, Instagram and YouTube. For more episode updates, visit my website. You may also tune in on Apple Podcasts. To pushing the limits, Lisa Full Transcript of The Podcast! Welcome to Pushing The Limits, the show that helps you reach your full potential with your host Lisa Tamati, brought to you by lisatamati.com. Lisa Tamati: Well, everyone and welcome back to Pushing The Limits this week. I have a really super duper interview coming up. I know we say that but are some of the people I have just blown me away. And this is Dr. Mansoor Mohammed who is coming on the show today, that name may ring a bell because documents or has been on the show, I think three times previous to this occasion. And he is one of my great mentors and teachers. And he's one of the world's leading geneticists, and functional genomic scientists. And it's really, really exciting to be able to work with a caliber of men, like Dr. Mansoor. Now, today's subject that Dr. Mansoor is going to be talking about is hormones, hormones and your genetic profile in regards to your hormones. We're specifically looking at the female hormone situation today. But what I do want you to know is that the hormones cascade is exactly the same for me. So a lot—while we’re specifically focusing in on the woman today, and we'll probably focus in on the men on another episode. A lot of what we're saying here will be relevant to men too. And just understanding that you need to know about these pathways, the genetic pathways, before you go mucking around with anything hormonal. And also some of the nutriceuticals that you may or may be taking can also interfere with this pathway too. So this information that's going to be coming out to you today is absolute game changer. Really important for me. I'm on bioidentical hormone replacement therapy, and because I'm going through the menopausal change at the moment, just being transparent. So this information for me has been absolutely crucial because I can tailor my own hormone prescription to my specific genetic needs. And then layering that on with understanding where my bloods are at as well. So it's really really key information.  If you're a woman who is on the pill, if you're a woman who's got endometriosis, or PCOS. Or if you're a male who's got prostate problems, or if you're a male who's thinking of going on testosterone replacement, all of these things are really, really pertinent to this conversation today. So I don't want you to miss out. Now do stick around to the end of the conversation because Dr. Mansoor has a company called the DNA, a company which actually has DNA reports. So you can get your DNA tested. If after listening to this session, you are curious about what the heck your hormone pathway is, and how to optimise it, then you can—you know, stick around to the end and check out the show notes as all the links will be in there as well. Before we head over to Dr. Mansoor, I just want to remind you, we have a new system now in Running Hot Coaching, my online run training academy. We have fully personalised, customised run training plans based specifically on your goals and where you're headed. If you want to join us in our company, we would love you to come along. You're going to get a session with me to discuss all your goals and your objectives, to answer any questions around running. And then you would also get a fully—after that consultation has been done, you'll get a video analysis so we can actually look at you running and analyse your running style and help you optimise that. And then you're going to get a fully customised training plan for your specific next goal. Whether that's a 10K or 5K, a marathon, a half marathon, it doesn't matter. We will provide the plan for you which will also include all your mobility work, your strength work, as well as your run sessions. And also guidance around nutrition and electrolytes and mindset, which are very, very important pieces of the puzzle as well. So if you want to check that out, head on over to runninghotcoaching.com. And you can find out all about it or if you've got any questions reach out to me support@lisatamati.com.  Also wanted to remind you my latest book, Relentless is available for sale. You can grab that on my website at lisatamati.com along with my other two books Running Hot and Running to Extremes. I'd love you to check those out. If you love some of the content that's been on this podcast, then these books will definitely be up your alley. My latest book is a bit different to the first two, which were my running adventures and all the highs and lows and disasters and successes that I had racing the world's most extreme events on the planet. The third one is really the journey I took with my mum over the last—how many—nearly five years now. After her aneurysm and bringing her back and rehabilitating her. But it's not just a book about rehabilitation. It's about mindsets about overcoming the odds. It's about the mental strength to be able to carry on when everybody's telling you there's no chance and there's no tomorrow. It's a book that will empower, inspire and have some very, very important messages that I'm really, really keen to get out in the world. So please make sure you check that out as well, Relentless. You can find all of those on lisatamati.com. Right now over to the show with Dr. Mansoor Mohammed.  Well, hi, everybody, and welcome back. I am super excited once again to have Dr. Mansoor Mohammed on the show today. And Dr. Mansoor is a real repeat offender on the show. I think this is the fourth podcast. You're the only person who's been on here four times, Dr Mansoor so welcome to the show again. It's fantastic to have you back. Dr Mansoor: It's an absolute pleasure. I'm not sure does that mean I have to repeat myself to be understood? Lisa: No, you've got so much knowledge that we have to share with everybody. That's why. Dr Mansoor: Absolute honor. Lisa: So Dr Mansoor, so today, we are going to be focusing everybody on genetics and hormones in particular. And we're going to be focusing in a bit on the ladies, although this is very relevant for the men out there too. So don't turn off if you're a guy and just go ‘Well, this is for one for the ladies’. This is also aimed at men.  But Dr. Mansoor is a world leading functional genomic scientist. And we're going to be talking today about the hormone cascade and understanding our genetic pathways that we take with our hormones and why we need to understand this and how important it is for us. So Dr. Mansoor where shall we start with this journey of going through the hormones. Dr Mansoor: I think the first thing we want our listeners to understand and it's not lost in any young woman, post menarche. And so let's just define just two quick terms menarche, the time in which a young woman begins a monthly cycle and she enters into young womanhood all the way through menopause, pre menopause, perimenopause and then postmenopausal. But in all of these wonderful stages of a young woman's life, that there's what we call sex hormones, the steroid hormones, the progesterone, the androgens, most notably testosterone, estrogens and their respective metabolites. They influence the human body at a cellular and at a holistic level, in the most fundamental of ways. Okay, so that's the first thing. Just to emphasise the importance of these sex hormones. The second is to clarify that with this importance, it's not just about external female characteristics of breast developmental, hip flare or thigh developmental, bum developmental, factor position. It's not just “about the obvious phenotypic or physiologic manifestations” of these hormones. We have to understand that sex hormones impact every aspect of cellular behaviour. These hormones when produced—and by definition, hormones are messenger molecules that are produced in one part of the body. In this case, for example, the ovaries. They then enter into the bloodstream, circulate throughout the body, and then impact every cell in that cellular behaviour. So the second more important point is our listeners have to understand that the way in which their bodies respond to these hormones define and contribute to every aspect of cellular function, every aspect of cellular function. Now, if we can appreciate that. The third thing we've got to appreciate and the young woman’S body, okay, is that there's a circadian rhythm or circadian, generally speaking, that there's a circadian nature to these hormones. In other words, it strikes me and I attended a remarkable conference a bit over a year ago. It was with the Red Bull team of super athletes and their clinicians. And one of the clinicians, she is from the UK. She specialises in treating female athletes. That's her series dealing with female athletes. And in her presentation, we were all presenting at this conference. She said something that was alarming, heart wrenching, but almost not surprising all at once. And what was she said, she would run a survey on these female athletes. These are like Top of the World female athletes, one of which just to begin with was one of the top—if not the top—female soccer teams in the world. And she said, not a single one of these athletes, female athletes were ever asked or made aware of the health of their monthly cycle. Lisa: Wow. Yes. And these are the top people let alone the other...  Dr Mansoor: Yes, and so she was beside herself as a scientist and the clinician, that for something as fundamentally impactful to the human body, as those sex hormones. So for example, as she illustrated, depending on whether a woman is in her follicular phase or her luteal phase of her menstrual cycle, proclivities to injuries change, the flexibility of the ligaments, and the body changes, the response to the body to different types of motifs of exercises, changes. When is the female body—can we speak in here, at first, in generalities of the average female going through a monthly cycle, not yet on the pill, we're going to talk about the pills as a separate factor. But just is part of the normative circadian rhythm of the female body. The female body morphs physiologically, cellular metabolically at day seven of the monthly cycle is completely different. And that's speaking a little bit extreme as to the body when it's on day 15, as to the body when it's on day 20. And so you've got individuals demanding the very best from their body optimal performance. And they have not yet even come to terms with the baseline changes to the body between these stages. And as you pointed out, so many injuries due to training in these athletes, and again, we're speaking of athletes, but we can, we can juxtapose that. Like you said the average female trying to simply be the best version of herself, could be avoided. If the young woman only knew what stage in her monthly cycle she was at. If the young woman only knew the oxidative stresses that are different during different times of the monthly cycle. So if I told you Lisa, that at a point in your menstruating cycle, you innately, naturally have surplus, oxidative stress. It really doesn't take a lot further to grow to understand in those times and days, the last thing you want to do is go—there you go. You don't want to put even more oxidative stress at that point in the body. And so on, and so on, and so forth.  So in this third category, as you said, to establish the baseline that we're speaking of, we've got to understand the importance of hormones, we've got to understand that it's beyond just the outward superficial physiology of the body. And in this case, speaking of young women, we've got to understand that there is a circadian rhythm to these hormones.  Now, once we understand these three bases, these three points,then we have to appreciate that part, a significant part of what controls, that's the circadian rhythm. And then within that circadian rhythm, what controls the nuances of one young woman versus the other relies upon their genetics. Lisa: The genetics, yes. Dr Mansoor: And so once we understand the functionality of the circadian rhythm of the female cycle, Lipson, once we understand the gears that are going through those 28, approximate dates, once we understand that rhythm, we understand the genes that control or significantly contribute to that rhythm. We understand that each individual potentially has variations in those genes that controls that rhythm. We begin to understand the nuances. We begin to understand the individuality of Paula versus Lisa versus Joanne versus Isabel. And so we begin to understand that one aspect of every aspect of intelligent medicine. But few aspects of medicine are as boldly innately different as the nuances and the individuality of a young woman's innate genetic control of the circadian rhythm. And one week we will talk about this, we need to appreciate this.  And the most abhorrent of complications that occur, if you do not understand this individuality, one young woman to the next, and then you take that birth control pill, I am not, of course, I have no place to be anti birth control, but I'm a man. I'm not a young woman. Now. So this is not about being controlling. No, not at all. But it's the fate. The simplest thing that we think that you can take 1000 university young woman, you know, first year university students, girls, young woman. And somehow put them on the same birth control, literally the same birth control. And somehow expect that they're getting to be the same effect, and somehow minimalise and even criticise a young woman who comes back and says, ‘I find that I'm gaining weight. I find that I'm—my mood is not the same, I find a’.. And then because five other young women don't have those issues, the doctor says ‘No, that's not because of the pill’, and they are dismissed. And they're not even appreciated as to the uniqueness of their body's response to something. Again, sometimes the pill is a saving grace for a young woman. But what we're speaking of here is in these three pillars, the fourth pillar is the individuality of the genetics of that young woman. And all of the remarkable insights that a young woman can gain from this. Before I go any further, it's not a plug in the least I hope I'm not, you know, going against any regulation of your podcast, but there’s a brilliant book called In the FLO. Lisa: In the FLO. We’ll put the link in the show notes. Dr Mansoor: I have no association with the author. But it's just she did an amazing job. And I'm trying to get the name as I'm speaking about. I'll remember the name. She did an amazing job, without the genetics, of showing how radically important a young woman understanding her circadian rhythm, how different points of her month, her body responds to different foods differently, her brain response, her emotive response. She's really done a beautiful job of highlighting the awesome, holistic cellular changes that go through a young woman's body in these waves of human rhythms every 28 days. So this sets the stage Lisa, everything that we might want to talk about, is predicated on this understanding. And then the genetics that explains this.  Lisa: That’s a beautiful entry into this whole actual looking at the mechanics, if you like, of the genetic pathways that I do want to get into. Because in other words, every single woman is individual. And this is the beauty of genetics in general, is that we can actually personalise once we understand their own genetic pathways. And you know, we do this both in our profession is to understand what our genes are doing and how they're expressing and how we can optimise these genetic pathways, if you like, in this case, with our hormonal pathways.  And this has a real implication when it comes to things like the birth control pill, when it comes to—In my case, bioidentical hormone replacement therapy on the other end of the scale going through the menopausal years. Because this has implications whereas, you know, if I take biological hormone replacement therapy, and we've actually talked briefly on one of their podcasts about some of my hormonal which I'm happy to share as well.  I'm on a hormone replacement therapy. But I understand my genes, and I understand where my problems may lie. And therefore I can keep an eye by from a blood perspective, you know, keep an eye on my hormone levels, but I understand my own cascade. And I can mitigate the chances for example of developing estrogen-based cancers or, you know, like breast cancers or cervical cancers. Whereas another person, if we put them on the same regime may run into trouble. Dr Mansoor: Indeed, even without the—shall we say, more extreme outcomes or concerns, such as hormonally-related cancers, but really just even the day to day well being of the body. You know, the risk of peripheral neuropathy is, the risk of migraines or lack before resolving them fatigue, weight gain, things that are—the way your body responds to nutrients. Again, understanding where your body innately, your your innate tendency is, as per explained by your genes. And we'll get into some profound examples of this.  And then making sure that you act in accordance because we have choices. And some of the choices we can make. And sometimes there are, you know, I think there are many times we speak about human optimisation.There are certain voices, and they have a point that can say, ‘Look, but there are universal truisms’. They're just things that we should all know, are either healthy or unhealthy. And there are a few of these things...  But what is remarkable here is, especially when it comes to female hormones, there are things that you might deem to be universally healthy, but actually can be either unhealthy or certainly not optimal for some young woman versus others. So we’re really in the realm here of not just talking about universal truisms that are relevant with or without genetics. We're speaking of nuances that are so radically important.   And may I say with that, if it's okay with you. I'd like to then set the stage of some of—just set the stage for themes, themes that your audience, your listeners. And then I'm going to say a few things. And my hope, and my goal is, for many of the listeners out there, at least a few of these things should resonate. For example, how many young women out there find that their introduction and their experience to cyclical migraines kick in post puberty?    In other words, here she is, she's living in the same home, same nutrition, healthy, or whatever version of lifestyle, and the day comes where she enters into your womanhood and break there after, right there after. Not directly related to her flow as per what she could physically and visually manifest. But this concept of now dealing with migraines, a concept of dealing with a circadian rhythm to her mood, and to her what she might find trouble for those first few years until she becomes an adult woman. And she's got life experiences, but she's always found that she's having a hard time to express, that she literally feels that her emotional resilience, that ability, that barometer to what tips are over that scale of resilience changes. And she's never—and no one has even asked her by the way. ‘Do you see that it comes in patterns? Do you find that it happens? And kicks in three to five days prior to your cycle? Do you find that that's when you see some of these changes in the month? Do you find that it kicks in a day before ovulation? Do you even know when ovulation is happening’? None of these conversations are going to happen.  So that these apparently unrelated just symptomologies of ‘Well, there's some anxiety’, or you know, ‘I get migraine’. They just brushed under the growing list of things that ‘Will you just take a pill for it’? Meaning a pharmaceutical treatment. Or they're minimised and somehow they're accepted as just a routine part of all, that's what it is to life. Okay. Or how many young women out there have dealt with some of the symptoms of migraines or pain, Fibromyalgia-like pain, debilitating fatigue. And then something miraculous happens. When they become pregnant for nine months, most of all, have their symptoms resolved. How many young women have said to me, I can't tell you, Lisa. Again, I know that being in New Zealand, I'm not sure if you have to deal with the plague of Lyme disease. It's something that we have here more in Eastern America. Lisa: Yes, more overseas. Dr Mansoor: But yes, but it's a bacterial tick borne disease that ruins lives. And there are, interestingly, a preponderance of women who present with Lyme disease-like symptoms. Now, we worked, I worked in a clinic and I was one of the first to describe this phenomenon. And I had to say not trivialising the horridness of disease, I said to a patient, I said, ‘You know, those ticks don't like women more than men’. Lisa: Then why more women are presenting with these symptoms? Dr Mansoor: Presenting with the symptoms. Unless women were more likely to go trekking and hiking and be exposed to, you know. But here's the point. It was that there was a significant—in one of the clinics that we did the study in. There were a significant number of women who presented with classically, what outwardly seemed as Lyme disease symptomologies of debilitating fatigue, almost concussion-like presentations, mental malaise, muscle aches and pains, as I mentioned, Fibromyalgia-like presentations, and they were convinced that they had Lyme disease, convinced that they had Lyme disease. And because it's such a polymorphic disease, yet many doctors were going ahead and treating them with massive antibiotics, even if they couldn't confirm the Lyme disease.  Because many doctors, almost agreeably have had to say because so many, so many true Lyme patients are being under cared for, right that there are some really good doctors wanting to do the right thing, who were treating the symptom and the presentation, per se. But amongst individuals were a preponderance of women who were not testing positive for Lyme disease. So what was going on here? And what we did when we studied these young women was, we looked at a significant number who then went ahead and became pregnant during their proposed Lyme disease. And for the nine months of pregnancy, all of their symptoms resolved. And I had to say to both the doctors and the patients I said, ‘Your Borealis, the burgdorferi Borrelia bacteria, the bacteria that causes—that doesn't just take a hike during pregnancy’. Lisa: It doesn't just go away. Dr Mansoor: It doesn’t just go away. It's not that. So what else is at play here? Well, how many young women understand that during their menstruating months and years, the primary estrogen in their body is estradiol? During pregnancy, your primary estrogen is estriol. Estriol is not metabolised into the same byproducts as estradiol. Estradiol can be metabolised. Every young woman metabolises this estradiol into three byproducts, 2-hydroxy estradiol, 4-hydroxy estradiol,  16alpha-hydroxy estradiol. Now every young woman produces all three. But genetically, you are predisposed to producing more of one or the other depending on your genetics.  And if you happen to be the young woman who was predisposed to producing in the ratio, more than 4-hydroxy or even the  16alpha-hydroxy, and God forbid more of the following 16 hydroxy as compared to the 2-hydroxy, the 4-hydroxy. And to a degree, the  16alpha-hydroxy metabolites are particularly inflammatory. They're literally inflammatory metabolites that the body has been designed to get rid of.  But if you were that young woman that genetically, was predisposed to producing more of these naughty metabolites, as opposed to the much, much less inflammatory two hydroxide. Then just innately, you the young woman that recycles the body, when it comes around to the body metabolising, those estradiol, your primary estrogen when you're menstruating. When that estradiol is metabolised for a period of two, three to five days, depending on your particulars, your body, literally, regardless of whether you were eating organic and living organic and breathing the best hair in the world, normally, you are producing an internal inflammogen. An internal thing that is causing both inflammation and oxidative stress. Now, during pregnancy, when you become estriol dominant..  Lisa: You're not getting it.  Dr Mansoor: You don't get these metabolised. And so when a young woman gets pregnant, and she complains prior to pregnancy, of these malaise and the symptomologies and then comes pregnancy and the only thing that has changed, and I've had young women cry in my office saying ‘Dr. Mansoor, how did you know to ask me if I felt better during pregnancy’? Because usually it's quite the opposite. People think, ‘Oh, my gosh, I'm gonna get morning sickness. And I'm gonna’...  These young women were better off. And they would say, ‘You know Mansoor, wish I could stay ‘pregnant. Those were the months where I actually had a relief from symptoms’. So this is Lisa... Lisa: Yes. Sorry Dr. Mansoor. So these 4-hydroxy in the  16alpha-hydroxy to a lesser degree, because it's a rarer situation. And this is in relation to the Cyp19a1 gene, the aromatase gene, turning our testosterones into estrogens. Is there any—so when we go on that—if we put on the pill, which is got estrogen in it. And you're one of those women who have—and this goes for me too. My husband has a 4-hydroxy dominance for example, which is a problem. He is—are we exasperating the problem when we take the pill without knowing it? Dr Mansoor: So just to clarify and add a layer of clarity. So estrogen and the estrogen molecule and the estrogen hormone is actually nothing other than aromatised testosterone. So a lot of young women don't appreciate that, you know, they self identify with estrogen. You know, women tend to self-identify their estrogens, and men tend to “self identify with testosterone”.  In fact, I had one of these absurd pop ups on—I was watching a food vlog which is my guilty pleasure, especially doing COVID. I like watching it, you know, foods being prepared and you've got these annoying YouTube ads that come up. And what if it was this buffed, you know, male trainer and he comes on the screen on the ad and he goes, ‘Well, testosterone is what makes a man, a man’. Not quite.  But the point is, men need to understand that we too, make estrogens. And women need to understand that the very estrogens that they may or may not self identify with are really simply testosterone molecules that had been aromatised. Okay, so there is a gene, a specific gene, one gene Cyp19a1, as you have mentioned. And in fact, the parlance, the more common name for the Cyp19a1 gene is aromatase. And this gene with its enzyme chemically changes testosterone into estrogen, i.e. estradiol, estriol, as the case might be, okay. But then once you make your estrogen, your estradiol, let's just fix it at that. Then there are other genes that make other enzymes, that make the two or the four or the 16 byproducts. So specifically, there's a gene known as the CYP1B1, CYP1—Bravo—1. This is the gene that makes the self named enzyme that takes some of your estrogen and turns it into the naughty, 4-hydroxy estrogen metabolite. Now, the point here is different women and different men—and just to clarify for the male listeners out there, if you would think that estrogen was a female issue, and if you would think that 4-hydroxy estrogen was a female issue, think again. And we now understand that 4-hydroxy estrogen metabolites in men contributes to prostate enlargement, contributes to the inflammation of the prostate for many years. In fact, for the last two to three decades, all of the research on benign prostate hyperplasia in men has focused on a testosterone metabolite, known as DHT.  So DHT, dihydrotestosterone is the product, it is the metabolite of testosterone produced by the steroid five alpha reductase to the SRD5A2 gene with its enzyme produces that metabolite. And it is true, the DHT, one molecule of DHT has the potency to bind androgen receptors as six molecules of testosterone. It's a much more potent, super testosterone. Super, right.  So here's the thing. DHT is to testosterone. As 4-hydroxy, estrogen is to estrogen. DHT is the testosterone metabolite that interacts with the androgen receptor, much in the same way as the 4-hydroxy metabolite of estrogen. 4-hydroxy overproduction and men, we have now discovered is a significant contributor to the etiology and the progression of prostate and benign prostate hyperplasia. Lisa: I thought it was just a SRD, the DHT so I need to know. Yes, okay, I need to go and check that with my husband.  Dr Mansoor: Now for the last couple of years. Some of the actual pharmaceutical clinical trials to treat benign prostate hyperplasia has switched everything, all of our propecia and finasteride, these medications that we currently... And just for the male listeners out there, it is unsurprising that the very medications that are often used for benign prostate hyperplasia, were found or would then use for balding. It has the same DHT that promotes male pattern balding is the same testosterone metabolites that over inflames the prostate. But now we understand that the males who have the 4-hydroxy estrogen preponderance genetically, why? Because they had a version of the CYP1B1 gene that made a version of the CYP1B1 enzyme that is more aggressive at converting estrogen into this metabolite. So men, this discussion is equally important to you.  But coming back to the females very quickly, then Lisa. You see a young woman who does not know who's going about her, you know, her life and her teenage years and her 20s not even knowing ‘what is the degree—what is what is my innate tendency within which I convert my progesterone to testosterone? What is my innate tendency to convert testosterone to DHT? That more virulent testosterone? What is my innate tendency to convert testosterone into estrogen? And by the way, once I make the estrogens? What is my innate tendency and converting it into the twos and the fours and the 16 metabolites’? Because you see, if a young woman were to understand this right off the bat looser, it defines why and how easily she develops lean muscle mass. It defines why she can eat the same foods, exercise the same as her mate, in fact, exercise more than her mate, and be fit and be beautiful and be strong, but never get that cut or that sort of musculature. As for not saying that that's what she wants to know. But so many women are going ‘I work so hard. I trained my bum off but I'm not seeing that type of’, this is going to be intimately described by the woman who is making less DHT from the testosterone, making more estrogens from making more 4-hydroxy estrogens from her estrogen from her testosterone. This is a young woman whose cellular level is estro dominant and estro toxic. And she cannot until and unless she appreciates this.  And until and unless she takes steps to reduce. And of course, that's the million dollar question, ‘Can we take us to 37:00 reduce it easily’? And the overwhelming answer is, ‘Yes, we can’. Okay. But she's even unaware of this to take the steps in the first place. So let me come back to those super athletic young females for whom their doctor, when they did the research. Here they were, no one ever even asked them what their monthly cycle health was. ‘Are you having a monthly cycle? Is it irregular? How do you feel with the cycle? Are you on the pill’? So now I answer your question, you see Lisa, if you didn't know where you were innately on that cascade. Remember, young woman out there, all of the ladies out there, in a ‘normal’, in your natural monthly cycle, without the pill. You know, just you're 16, you're 26, you're 36 you're menstruating. How many of you realise that that estrogen that you self identify with isn't produced 24/7, 30 days a month?  Lisa: Exactly. It is when you put on the pill work. Dr Mansoor: That's the difference isn't it? The very point that I'm trying to make is, in your natural monthly cycle, your body is only estrogenised, it is only under the influence of this hormone. And I'm going to stop beside and make a couple more points on this. But I'll finish my point here. When you are naturally menstruating, there's only a window of about five to seven days, give or take in your 28 or 30 day or thereabouts, where you are in your unique monthly cycle, that your body is actively producing estrogens. Those estrogens are actively circulating in your bloodstream. And the cells of your body are actively responding to that estrogen. Compare and contrast that to being on the pill, where have for 21 days of a 28 day cycle, not five to seven days, 21 days, your body is under the influence of testosterone. Here's the thing Lisa, that I have to admit. And again, let me be clear, all of Lisa's amazing listeners, this is not about anti-pill. The pill is absolutely—it is your right. It is something that you control. It is absolutely a godsend for different times of your life and for different young women. But you've got to ask, Where are you in the spectrum of young woman? And how will your body respond to this differently? And you would at least need to understand that your body was not estrogen eyes for 21 days in your normal cycle.  And here's the newest thing, Lisa. That I must admit, this gives me indigestion. Again, I have no say over the matter, but down the practice of actually having no bleed, how many women are now being put on constant pill without even a bleed through? So now you go from a normal physiology of every month, say seven days of estrogenisation to 365 days of estrogenisation.  Lisa: Disaster. Dr Mansoor: So now, Lisa I'm—and we would be remiss if I don't quickly emphasise to our listeners, what is estrogen? ‘What is this thing that you—okay, well, it's stopping me from getting pregnant. My hair is luscious, my skin might look really wonderful. So after all, shouldn't be a problem’. What you have to understand, and our listeners out there in the female body—and I can speak of the male and female body, I'm just going to focus on the female body for the time being. In the female body, Lisa, every single cell produces these receptors for estrogen. So if this is your cell, you have an estrogen receptor. And when that estrogen is produced, or it is taken as a pill, or as whatever the— even certain neutra estrogen analog or xenoestrogens and plastics, these molecules enter your body, they bind to these receptors on your cells, okay? Because by the way, estrogen doesn't do what it does in the body by just being produced and floating in the bloodstream. No. Estrogens do what they do in the body by being produced by then binding to these receptors. And what happens, this is the important point. What happens when estrogen binds to its receptor? What happens is the DNA expression, your genes in that cell, gene expression is radically altered? Literally, the genes, the instructions within your cellular operating manual changes when estrogen enters the cells. When there's no estrogen in the cell changes. So now let's come back, the female body.. Lisa: Apologies for the phone call people in the background. Dr Mansoor: The female body in its normative circadian rhythm experiences a gene expression shift, change in gene expression for the days in which your estrogen was elevated. And yet, of course, it comes back down in the normal cycle. What happens when you force yourself to go into a gene expression shift to 365.. Lisa: Constantly. Dr Mansoor:  ...days a year without change.  Lisa: And we're talking like hundreds of genes, hundreds of thousands of genes that have been changed, turned on and off, turned on, and wow.  Dr Mansoor: These genes impact the metabolic efficiency of your cells. Well, the thyroid function, which is why how many times we see a competitive joint problem between hypothyroidism, hyperinsulinemia—your body's response to insulin, and estrogen dominance. Wow. And when these three things come together, we euphemistically call it metabolic syndrome. You know, there's a read, there's a point behind, there's an impact behind it.  And the point here that I want to make is, we often just think of the sometimes and arguably beneficial outcomes, outward outcomes of being on the pill. Okay. And I emphasise for the umpteenth time, please, this is not about not being on the pill. The pill can be what is right for you at certain points in your life. But it's about being educated, that taking this hormone is not something as trivial as stopping your ovaries from producing an egg. That's not what that hormone is doing only. This hormone is interacting with every cell in your body and it is changing the way your genes express in every cell of your body.  Now, the point here is, if we were to do—I like to call it a heat map. If you took a young woman, and you colour code her body, from white to red, according to which cells in her body have had more estrogen receptors. What you will do is the whole body isn't going to be white, the whole body isn't going to be red, it's going to be shades of white and pink and red. And of course, unsurprisingly, the region of the breast tissue will be somewhat the reddest, because those cells and the breast tissue are some of the most sensitive to estrogen. So what does this mean? It means that when estrogen is present in the bloodstream, the cells of the breast tissue are some of the most able to absorb that estrogen. But what happens when it absorbs the estrogen? Gene expression happens, gene expression changes happens. And the cells were designed to account for a circadian rhythm to their gene expression change. Not 21 days, repeatedly, repeatedly, or 28 days, for that matter, repeatedly, repeatedly. Again, I stress not for the young woman who is seeking birth control maybe for a few months, or periods in our life. We're speaking of the travesty of the young woman that had been on the pill since they were 14. And here they are 32. Lisa: Unable to conceive and or cancers, or weight gain, or cellulitis, or all of these implications. Dr Mansoor: The very metabolic machinery of that cell, you're very mitochondrial efficient efficiency of the cell is impacted during—and this brings me back to the brilliant comment by the brilliant female scientists that I was speaking of earlier, where a young woman should understand that in her natural, healthy 28 day rhythm, metabolic efficiency, mitochondrial efficiency, changes in response to the ratios and the waves and thrusts of progesterone versus testosterone versus estrogen.  Think what happens when you put a blanket of estrogen over everything, 24/7, 28 days, 30 days a month, 365 days a year.  Now, the point here, Lisa is coming back to even more finesse point in your question is, well, that is what I what we've just explained happens in every young woman that goes into pill, every young woman that goes into pill. But what happens when you didn't realise that you had the proclivity of making more of the 4-hydroxy estrogens? What happens when you didn't realise that your ability to then neutralise the 4-hydroxy estrogen that inflammatory estrogen metabolic, which by the way, you know, not realising that you were making more of it. You were producing—when you introduce X amount of estrogen molecules more if it was going down the 4-hydroxy pathway than the healthier 2-hydroxy pathway? If you were not aware of this, and you were doubly unaware of the molecular mechanisms that neutralise? So what is the gene? — Let's take a look at this. What is the gene that neutralises 4-hydroxy estrogen? What is that gene? The gene that neutralises, is COMT, catechol-O-methyltransferase. This is the gene, the gene that is—makes an enzyme. The same name, that's COMT enzyme. And the job one of the jobs of this enzyme is that it recognises the production of 4-hydroxy estrogen, which is inflammatory, which is pro-oxidative, pro-inflammatory, pro-estrogen. Indeed. Because here's what happens, that 4-hydroxy estrogen—think about it, Lisa and all of the listeners—you took estrogen, which was binding to its receptor, and causing all of those estrogenised changes that we spoke of. So of course, what the body wants to do is it wants to limit the duration by which estrogen can bind to its receptor.  So it's good to metabolise the estrogen. But ironically, when you metabolise your estrogen into 4-hydroxy, estrogen, ironically it's still doing—in fact, not only is it still binding to the estrogen receptor. Some studies indicate it can bind to the estrogen receptor actually with greater proclivity within greater binding efficiency than its original estrogen. And it can induce that altered gene expression 2-hydroxy estrogen does not do it near as much, which is why we consider the 2-hydroxy estrogen prefer—to be the best pathway.  Well, the point here is COMT converts that full hydroxy estrogen into 4-methoxy estrogen. Now, 4-methoxy estrogen dramatically loses its ability to bind to the estrogen receptor. So 4-methoxy estrogen is what we can now say it's no longer estrogenising. Okay? The other thing of the 4-hydroxy, going back now to the 4-hydroxy, estrogen, if you're not removing it, if you are not converting it by methylation into the methoxy, estrogen, 4-hydroxy estrogen, it decomposes into these nasty little molecules called quinolones. Horrible, not very nice things. And quinolones decomposed into oxidants. So the whole stagnation if—let's let's clarify the statement now. Now, if as a young woman, you did not know that you have the predisposition, when ever your body sees estrogens, whether they are internally made, or externally introduced, when ever your body sees estrogen molecules, if you did not know that you A) tend to metabolise those estrogens into 4-hydroxy by products more than we would like and B) you will not as efficient at neutralising the 4-hydroxy estrogen by virtue of COMT, what you are unaware of is you are unaware of this thing called an estro dominant burden with estro toxicity. You are unaware that in your normal cycle for five to seven-ish days, your body is under the strain of an internal inflammatory production, internal oxidative stress more than your female companions. And will you to then take that normal exposure, but then by going day in day out on an estrogen source, think of what you're doing to the body. Lisa: And by the same take of the bio identical hormone replacement on the other end of the scale with the menarche, the menopause. And we want like, just just to clarify, estrogens are not evil things we want. The body needs estrogens and like it keeps us younger. I mean being on—this is the dilemma that I've been facing. The biological hormone placement keeps me—my bone density good, keeps me—you know, being able to hold my muscle, my skin is better. I'm not aging as quickly the inability or cells of my vessels are better, etc, etc. However, I need to keep those in a balance so that I don't get too many chicks estrogens going in or I need to keep my progesterone up and I need to make sure I know where my testosterone is. Yeah, so that. Dr Mansoor: Because it's about the balance. It's about finding—and so here's that final point. You know how we spoke about the cells, Lisa having these estrogen receptors? Well, your cells have androgen receptors as well. And they have progesterone receptors as well. So think now, we can almost visualise a healthy soul, a healthy female soul is one that is having—it's a traffic system. And it's one that is being trafficked into it at the proper ratios at the proper circadian pulses and rhythms.  Sometimes estrogens are getting in, altering gene expression in an estrogenised manner. Sometimes androgens are getting in altering the gene expression in an androgenised manner. Sometimes progesterones are getting it, altering the gene expression and the progesterone alised manner. And it is optimal health and optimal youthfulness and responsiveness to yourself is when we get that circadian rhythm allowing the cell and allowing its operating manual, its genes to go through this rhythm of when are the—the genes that are controlled, and that are going to be expressed because of the presence of estrogen. The genes that are going to be controlled and expressed because of the presence of testosterone, because of the presence of progesterone, these waves and rhythms of gene expression, optimal health is when these waves happen in the optimal full manner, okay? And we can replace that optimality and we can extend the optimality and therein lies the brilliance of hormone replacement, of which it absolutely is something that you know, other knowledge can afford. But unfortunately, when we do this, without the appreciation of the individuality of these ebb and flow waves, and we push the system, without appreciating what was the a priori tendency of that young woman. Was this young woman a priori andro dominant? Was she a priori estro dominant? Was she estro toxic? Was she estro dominant and estro toxic? If you do not know these things, you're going to be guilty of—you're going to be at risk of using a one size fits all approach that will be beneficial for 10%, 20%, 50% of woman, but that most certainly equally can be deleterious for a group of young woman, unwittingly. Lisa: And this is what shocks me is that we have done this human experiment, like 85% of the population of woman on the planet who are in their menstrual years have been on or are on the pill, including myself, who was on it for 25, 30 years, I don't even know and ended up with fibroids, ended up with endometriosis, even though I don't have the 4-hydroxy dominance. Yes, and because I was constantly on these things, and so now with these genetics—and this is the point. We are able to tweak into change. For example, I'm on organic black seed oil, which upregulates my Cyp18a1 genes, which helps me create more 2-hydroxy because I'm 57:15 red-lighted if you like for that one as well. I take them so that I can slow down the aromatase of testosterone. I have a very quick Cyp17a1. So I need a bit more progesterone support, because I'm making my testosterones very quickly. But without this knowledge, we just like throwing mud against the wall and hoping it sticks in the right places and doing so many people and injustice. Dr Mansoor: Think about this, Lisa, that COMT, that all important—that is that is methylating those metabolites including the naughty 4-hydroxy estrogen. Well, Lisa and listeners out there, there's a variation of very, very, very well studied variation of that come to genome. For those of you who are dabbling with a little bit of genetics, this is the rs4680 variation. So you can actually go look at the code of the variation. And these variations have coding qualifications. This is the rs4680 variation. And this variation is defined by two alleles, two versions of the gene. One is a G version, G as in George, the other is the A as in apple version. Okay? Now, the G version of this gene produces a version of the enzyme that is faster, it is kinetically more efficient at doing its job. But what is it one of its jobs? Neutralising 4-hydroxy estrogen. So much so that if you were a GG, both copies of your comt with the fast versions, the genes and versus if you were AA, both versions were slow. The AA COMT individuals, the people that have to have the slow versions of the gene, their COMT is working at 70% to 75% slower than the person that is... We're not talking trivialities, we're not talking 5% to 10%. We're saying that if you're an AA, your enzyme is doing the job. It's doing its job. It's just doing it 70% slower than if you were a GG. Now, here's the point. If you were a COMT A and you had the fast version of Cyp1B1 making more 4-hydroxy estrogen from whatever estrogens your body is seeing. Now you’re not getting rid of it.  And here's the final point. There are a number of nutraceutical nutritional intake things environmental exposures that can further epigenetically slow down COMT. So here's one of them. Several of the molecules, the phenolics, in red wine, which we could talk about whether red wine is good for you one glass, we can… But the phenolics in red wine epigenetically slows down COMT further. If you were in AA COMT, already dealing with a pump enzyme, it is doing its job. And then you will drink something like red wine that another person might have had, you know, perfectly fine having a glass of wine, or whatever the case might be helpfully. You don't even realise that you're doing something that is actually now nutraceutically—from a nutrition perspective, working against something in you that you were even unaware of. Lisa: Wow. And then if you layer on that, that you don't have optimal B 12 levels and folate levels and your methylation process is slow. Dr. Monsoor: Now we're really putting in—you're really putting fuel on the fire. So those listeners out there... Lisa: Yes, this leads to things like cancer. Dr. Monsoor: It leads to cancer, it leads to—again, I keep saying, you know, even before we get to cancers, it leads to a quality of life, that can be so radically either improved if we knew or simply a quality of life, where we're simply being told ‘Well, you know, that's just of the things… That's the way it is’.   Lisa: Wow, Dr.Mansoor, I know you've got another appointment coming up, and we have to jump off the call. And I don't really feel like we've finished this conversation. So again, I'm going to have to have you back. And we have to go over the men’s male hormone report too, because everything that we've seen today is also valid for the men in different races, same cascade.  And what I want to get across though, Dr. Mansoor is that you have the power now to be able to understand these genetics. So you and the DNA company have a hormone report, which I'm going to link to in the show notes that people can go and order. The only reason I'm doing this is because I want people to get this report. I want them to understand the genetics and I want them to optimise the genetics and make informed decisions around their hormone replacement or their pill or their what nutraceuticals to take, whether you should take them with you should take black organic seed oil, goodness knows what—all of these things that we can do to optimise our pathway. So I'm going to be linking to that in the show notes that Dr. Mansoor's company has this report now. And you can find out exactly what you should do and how to optimise your your actual personal hormone situation.  Dr. Mansoor, is there anything you wanted to add there?  Dr Mansoor: Well, Lisa, shortly, the short answer, no. A little longer than the short answer is to emphasise what you've just said. This is about empowerment. It is the empowerment of being informed, being informed about your unique predisposition. What is your operating manual, making your more normative choices, if you will, of these cascades? And then how do you optimise the things that you want to do and the things you don't want to do. And it is this empowerment that we really want. It's not about negating any choices you have. It is rather simply about empowering you to either make healthier choices, or when you make certain choices, you make them informed about the limitations of those choices, and then you do your best to mitigate any consequences or implications thereof. And then I will end with one very quick note. As you've said, you know, we've emphasised the ladies here and the woman viewing this, but it is as important to the men and I will give you a very quick example. How many men are going through that man no pause period. I'm 48. I can tell you a thing or two about that. But how many men have come to me having felt that they were declining in their muscle mass and declining in their performance in, you know, both in the bedroom and out of the bedroom and everything else? And they thought that testosterone was the magic fix. And what they did was they went and they were prescribed in good meaning testosterone, only to find that upon taking the testosterone, they were becoming more and more estrogenised. Right. Because remember, even when you take testosterone that same Cyp19a1, that same aromatase is going to convert some of that testosterone into estrogen.  And men that Cyp19a1 gene comes in three different versions. A version that is going to convert your testosterone into estrogen, much faster, medium speed and slower. And so if you don't know which version of Cyp19a1 you have, you do not know what is your body's natural tendency to convert testosterone into estrogen, which can have so many implications on the choices you make, per going into hormone replacement. Lisa: Yes. And that's a thing that I'm discussing with my husband and my brothers at the moment, you know, like the implications of testosterone therapy. And it's not—it's a very simplified thing, ‘I'll just take testosterone, and I'll take a heck of a lot of it because I want more muscles’. It's not. And there are a lot of men doing that. And it works for some, and it doesn't work for others because of this very intricate knowledge that we need to have before we make these decisions.  So Dr.Mansoor, I thin

Tuli chats with Professor Michele Morgante, who is Full Professor of Genetics at the University of Udine in Italy and the Scientific Director of the Institute of Applied Genomics. There is a LOT of fascinating stuff in this episode. We cover everything from the evolutionary history of arabica, to the importance of genetic diversity, to the arabica 'mother tree', to oranges (which are a cross between pomelos and mandarins, by the way) and breeding via intentionally planting seedlings in radioactive soil. This is the paper discussed in the conversation: A single polyploidization event at the origin of the tetraploid genome of Coffea arabica is responsible for the extremely low genetic variation in wild and cultivated germplasm

While we’re trying to figure out how to baste a turkey or steal a decent dressing recipe to help us make it through the holidays, Dr. Gergana Nestorova, assistant professor in Louisiana Tech’s Department of Biological Sciences and program chair for Tech’s Molecular Science and Nanotechnology (MSNT) program, is aiding NASA in learning how to farm off Earth — and with no earth. Nestorova created a new technology to more effectively analyze plant material, which will be used by a team of scientists who are discovering how to grow vegetable gardens in microgravity. These vegetable gardens will provide nutrition to astronauts on missions to the moon, and later Mars. When Man shoots for Mars, the journey alone will challenge any current “Use By” date: it takes six to nine months just to get there. On this episode of Beyond 1894, Nestorova, her undergraduate researcher, Francesca Weis, and NASA astronaut and scientist Serena Auñón-Chancellor, who spoke at Tech as part of its New Frontiers series, offer space food for thought. Website: 1894.latech.edu/beyond/ Email: 1894@latech.edu Download the transcript to this episode. Dr. Nestorova’s lab – The Applied Genomics and Biotechnology Lab

Welcome back to the Neuroscience Meets Social and Emotional Learning podcast, episode #93 with Dr. Momo Vuyisich, the co-founder and chief science officer of Viome[i], a healthcare disruptor that’s using IA to analyze your gut microbiome to make personalized nutritional recommendations.You can watch the interview on YouTube here. I’m excited to introduce you to Momo Vuyisich, the chief science officer at Viome, who leads their efforts in product development and clinical research. Momo knows all too well of the importance of the gut/brain connection and how we can take control of our own life and health by optimizing our gut microbiome with personalized nutritional recommendations using Viome testing.  Before co-founding Viome in 2016, Momo spent 12 years at Los Alamos National Laboratory[ii], where he was the leader of the Applied Genomics team. His research focused on applying modern genomics to the areas of gut microbiomes, host-pathogen and microbial inter-species interactions, pathogen detection, cancer biology, toxicology, infectious diseases, and antibiotic resistance.In this episode, you will learn  How Momo, the founder of Viome.com reversed his rheumatoid arthritis with a change in diet.Forward thinking strategies for taking your health into your own hands.What your poop can tell you about your health.What exactly is microbiome testing and how it works.A vision of the future where chronic disease is preventable and diet is personalized.“Today we have 100% of the science and technology needed to cure every chronic disease and every cancer.” Momo Vuyisich“The only way to predict the future is to invent it.”  Momo VuyisichWelcome Momo, thanks so much for taking the time out of your day to be here today.INTROMomo, I mentioned to you that I recently did an DrQ1: Can you give us your background, and what brought you to where you are today, inspiring your work with Viome, whose on a mission to help the world understand what we uniquely need to be healthy, and ultimately prevent and reverse chronic disease like Alzheimer’s, Diabetes, Parkinson’s, MS and Obesity?Q2: I don’t want to repeat the incredible information you gave Luke DePron on his podcast, so I am posting the links to his episode in the show notes.[iii] For those of us like me who were beginners to understanding what the microbiome is, and the gut/brain connection, you did offer an incredible resource for everyone to check out. You suggested to look up Dr. Robynne Chutkan and her book[iv], The Microbiome Solution, and she has a new book out now called Gut Bliss.  She also did a great intro to understanding the microbiome for CBS Morning News that you can see on her website.[v] Can you give a quick overview on why it’s so important for us to understand our gut microbiome, the gut/brain connection and why true health begins in the gut?Q3: Before I heard Luke’s podcast with you, I knew that we need to protect our gut microbiome, and that taking a probiotic can help balance our gut and keep us healthy. I also had heard about prebiotics, or foods that were good for gut health, and do try to stick to low glycemic foods. After listening to some of your podcasts, I know there are medicines  (like antibiotics, acid reflux medicine, NSAIDS and birth control pills) that can damage our microbiome and foods that can either help or hurt us, and perhaps that the foods I am choosing from the glycemic index might be spiking my blood sugar?  Can you explain why probiotics are limiting and why different foods can be beneficial to my microbiome, but not yours?Q4: How are you helping people to understand what they uniquely need to be healthy and allow them to take back control of their health? What exactly do you do at Viome?Q5: What are you focused on now at Viome, what is your 10-year vision, and what do you need to get there? Thank you very much for your time today, Momo.For people who want to learn more about Viome, they can go to Viome.com and learn more about the process of taking the simple at-home test, learning their scores, and the supplements and suggestions for foods they should either avoid, minimize, enjoy and those that are superfoods for them.Email studies@viome.com if you would like a FREE mold test on your home or workplace.Thanks so much!RESOURCES:The Links Between the Gut Microbiome, Aging, Modern Lifestyle and Alzheimer’s Disease Edited by Ashley E Franks March 18, 2020 https://www.frontiersin.org/articles/10.3389/fcimb.2020.00104/fullhttps://www.viome.com/blogNeuroscience Meets SEL Episode #82 with Doug Sutton “How a Brain Scan Changed My Life.” https://www.achieveit360.com/how-a-brain-scan-changed-my-brain-and-life-with-doug-sutton/What is the Difference Between a Prebiotic and a Probiotic https://www.medicalnewstoday.com/articles/323490Gut Intelligence Test https://www.viome.com/products/gut-intelligenceHealth Intelligence Test https://www.viome.com/products/health-intelligenceMonthly Supplements https://www.viome.com/products/supplementsSee if you qualify for an active study at Viome https://www.viome.com/research-institute/studiesREFERENCES:[i] https://www.viome.com/[ii] https://www.lanl.gov/ How MomWhat W[iii] Gut/Microbiome Health with Momo Viyisich on Luke De Pron’s Live Great Lifestyle Podcast http://www.livegreatlifestyle.com/podcast-category/gut-microbiome-health-w-viome-co-founder-dr-momo-vuyisich/[iv] https://robynnechutn.com/books/[v] Dr. Robynne Chutkan https://robynnechutkan.com/

ASPENBRAINLAB - 7.12.2019 - Hotel Jerome - Aspen, CO Dr. Momo Vuyisich is a founder and Chief Science Officer of Viome. He is also an Adjunct Professor at the University of New Mexico and New Mexico Tech. Besides providing scientific leadership at Viome, Momo focuses on product development, clinical certification, and clinical research. Before co-founding Viome in 2016, Momo spent 12 years at Los Alamos National Laboratory, where he was the leader of the Applied Genomics team. His research focused on applying modern genomics to the areas of gut microbiomes, host-pathogen and microbial inter-species interactions, pathogen detection, cancer biology, toxicology, infectious diseases, antibiotic resistance, forensics, etc. He also helped set up several genome centers in Africa and Asia. Momo received his PhD in Biochemistry from the University of Utah, and BS in Microbiology from the University of Texas at El Paso. http://www.grassrootstv.org/

Today's Guest:  James Lu, MD, PhD | Co-Founder and SVP for Applied Genomics at Helix Greg and James talk about the importance of clinical quality sequencing personal genomics and consider the possibility of treating genetic testing as a foundational diagnostic, enabling the health system to target resources at those who need them most - before they get sick. Important links: James' LinkedIn: https://www.linkedin.com/in/james-lu-m-d-ph-d-8450334/About Helix: https://www.helix.com/pages/about For more, visit the DataPoint show page at http://touchpoint.health/shows/datapoint/.

How did modern molecular biology become an integral component of forensic science? My guest, Bruce Budowle, played key roles in the development of genetic and microbial forensics, and he explains significant events in forensic science over the past four decades. Bruce joined the research unit of the FBI Laboratory Division in 1983 and rose in the ranks to become the Chief of the Forensic Science Research Unit and the Senior Scientist for the Laboratory Division. In 2009, Bruce left the FBI to become the Executive Director of the Institute of Applied Genomics at the University of North Texas Health Science Center. Bruce directs the Center for Human Identification and he is the Vice Chair of the Department of Microbiology, Immunology, and Genetics. He has published about 500 scientific articles and testified in over 250 criminal cases. Bruce and I discuss the missing children of Argentina’s Dirty War, the O.J. Simpson trial, the 9/11 terror attack on the World Trade Center, the subsequent anthrax letter attacks and the advent of microbial forensics, the DNA Fingerprinting Wars, DNA genealogies and forensics, and making mistakes in forensics.

In this episode, Madeline is joined by Dr. Hakon Hakonarson, the founder and director of the Center for Applied Genomics (CAG) at Children’s Hospital of Philadelphia (CHOP). Dr. Hakonarson leads one of the world’s largest genetics research programs. His team is working to identify the genes that cause complex medical disorders in children and looking for the genetic causes of cancer, autism, diabetes, obesity, schizophrenia, ADHD and autoimmune disorders – to name just a few. These are very different diseases, but CAG’s objective is the same in each case: to use their discoveries to develop new diagnostic tests and new therapies for pediatric diseases. To find out how you can help make tomorrow’s breakthroughs at CHOP, click here.

Dawn Barry is President & Co-founder of LunaDNA and former executive of the $40 billion DNA sequencing leader Illumina, which also hails from San Diego. LunaDNA incentivizes the sharing of health and DNA data for research by rewarding people for sharing the data they already own while contributing to medical research and discovery that saves lives. What really sets LunaDNA apart is that people who share their data are able to get shares of ownership in the company, something that’s never been done before. What really sets LunaDNA apart is that people who share their data are able to get shares of ownership in the company, something that’s never been done before. In the last year, Dawn co-founded LunaDNA, which is backed by Illumina Ventures, among other investors. Before cofounding LunaDNA, Dawn - who was was named San Diego Business Journal’s 2017 Business Woman of the Year - rose through the ranks at Illumina, from sales specialists to Vice President of Applied Genomics. There, she integrated market development strategies with product and business model innovation to accelerate the application of genomics in medicine and personal healthcare.   Hailing from rural Berlin, Connecticut, Dawn had humble beginnings as a carpenter’s daughter. She grew up surrounded by plants and animals, which sparked her interest in nature and biology. From an early age, she had the notion that if you take care of nature, it will, in return, take care of you.   Dawn, who studied biology at the University of Vermont, became interested in genetics via her fascination with the organization and blueprint nature of it. The idea of better understanding the blueprint of all living things, and being enabled to become more predictive with that information, was something that intrigued her early on.   Dawn began her post-grad career doing working for Michael Snyder, a renowned genomics professor at the Yale Genome Analysis Center in Connecticut, and then went on to work at a startup in New Haven called Genaissance, where she learned about pharmacogenomics. From there, she earned her MBA from the University of Connecticut, marrying both her passions of business and science.   Listen in as Dawn talks about her journey from humble beginnings in rural Connecticut to helping lead an innovative genetics trailblazer in San Diego.   Dawn enjoys the great offerings near the Solana Beach-based LunaDNA office including: Tacos at Las Olas in Cardiff Craft brew, specifically the Mosaic IPA, at Culture Brewing in Solana Beach (and Carruth Cellars for wine) Coffee at Lofty Coffee in Solana Beach   Keep up with Dawn on social media: LinkedIn Twitter - @DawnBarryDNA

080 | Pursuing cures and advancing innovation   Welcome to another episode of Biotechnology Focus radio! I am your host – Michelle Currie – here to give you the rundown on what’s been happening on Canada’s biotech scene. It has been a busy last couple of weeks as the new genomics cloud platform was launched, a researcher from Roche Canada shares her input on future of innovation in cancer care, and the fight against cancer innovation trust invests almost half a mil in Ontario research technologies.   +++++  The world is opening up to the idea of genome sequencing. What was once a far-fetched idea is now beginning to materialize – and we are only at the tip of the iceberg. Information technology like Facebook, Google, Wikipedia and Uber are all prime examples of impactful software platforms that connect people with data that have set the stage for the next act.  When you look at where DNA sequencing began back in the 1970’s with the “Sanger sequencing method” as a process of determining the order of bases in the length of DNA, we’ve come a long way. But still, researchers are at the forefront of this revolution of gathering our personalized genetic information and using it to power the next generation of safer and more effective “precision” medicines.  This is where Marc Fiume and his team from DNAstack, a Toronto-based cloud genomics company, have their role to play. Started in 2014, the company began work with some exciting researchers from around Canada whose hot topics included autism and cancer research. But constantly they were told that the researchers just didn’t have enough samples to make sense of all the data they were collecting and that they really needed a platform that would connect them with other researchers globally who found themselves in the same position. Inspired by the concept of Facebook, they decided to build their own platform where genetic research could transpire among researchers worldwide.  He refers to the lack of data access as “potentially keeping life-saving information in a basement server room” and is one of his biggest frustrations when it comes to genomic research. Unveiling the sequence of a genome is challenging, time-consuming and expensive. Perhaps that is the reason why such a platform can no longer be just a notion, but become a mandatory tool so we can further our knowledge unified, instead of trying to connect the dots apart.  Genome sequencing is a lot like “decoding” of a foreign script or ciphering out a code of each individual’s personal genome. It is a long string of letters that forms a sort of molecular blueprint that is unique for each of us. These “strings” of letters are about six billion long, and currently, researchers are only grasping about a very small per cent of what those letters represent. This is why the need for sharing information should be a necessity.  In an attempt to break this societal self-inflicted mold, Marc worked with Dr. Stephen Scherer from The Centre of Applied Genomics on the “Personal Genome Project Canada” to facilitate the publication of health and genome records online for free. The intention being that whether you are sick or healthy, it is incredibly useful personally and for the research community to have your genome sequenced. Perhaps you have a predisposition to a potentially harmful genetic disease that you were not aware of before and could catch it before it starts, or if you are a carrier, or if you simply want to learn more about your ancestry. All of this is possible with genome sequencing. While some may not be ready to have theirs published online, it could still be made available to you in the privacy of your own home.  Marc and Ryan Cook, the other co-founder of DNAstack, have both tried to decrease the unease attached to publicly airing one’s genome sequence by publishing their own. “It’s about empowering and making key decisions about their healthcare in a way that’s not scary and also to break down barriers about data sharing,” comments Marc.  There are now 56 genome researchers that are bearing it all for the world to see, and encouragingly are following up on some of the data that they have found.  DNAstack recently launched their Canadian Genomics Cloud platform that is designed to better connect data, researchers and systems across the country to accelerate genomic discoveries and the implementation of precision medicine. It was invented by Canadian leaders with decades of experience in genomics, sequencing, cloud computing, software, security, and policy to democratize access to best-in-class infrastructure while respecting the unique national and provincial requirements for data privacy and security. Their aim is to service the needs of Canadian genome scientists from research institutions, clinical laboratories, pharmaceutical companies, hospitals, and industry.  The hope is to demonstrate that Canada now does have the capacity to do a precision medicine initiative at scale. Canada is really ready for this.” – says Marc.   +++++  For most of us, the start of a new year is a natural time to reflect on our progress as individuals. We take stock of the lives we’ve lived, the advances we’ve made, the impact we’ve had on those around us and the steps we need to take in the year ahead to achieve our goals.   For the Pharmaceutical and Biotechnology industry, the start of the new year is much the same. Standing at the doorstep of 2018, many of us who have spent our lives trying to advance healthcare around the globe believe that we are at a point in our careers, where science is progressing at a rapid rate.  In fact, some of us would venture that science is progressing at a rate that is outpacing our ability – as healthcare providers, as governments, as payers and as hospital institutions – to integrate these cutting-edge advances into clinical practice. While this reality poses significant challenges, it’s exciting to be on the threshold of so many unprecedented discoveries and novel treatment approaches for some of the world’s most devastating diseases.  The field of biotechnology is rich with discoveries that will have a dramatic impact on Canadians in 2018 and beyond. However, there are three key developments in the area of oncology in which we can expect to see some of the most transformative and immediate changes. These include:  the expanded role of diagnostics to optimize treatment choice;  the adoption of histology-agnostic treatment approaches; and  the next phase of true precision medicine     Expanded Role of Diagnostics  In recent years, the use of diagnostic tests within the Canadian cancer care setting has become an increasingly important practice, particularly for guiding treatment decisions and optimizing the patient’s chances for positive outcomes. In fact, it’s estimated that nearly 70 per cent of all treatment decisions today involve a pathology and/or laboratory investigation.  While the role of predictive biomarker testing has already been well established for some time in certain tumour types (such as HER2 in breast cancer or EGFR and ALK in lung cancer) we are witnessing the emergence of two trends that could further enhance patients’ care and their experience with our healthcare system. These include the ability to simultaneously look beyond a single biomarker through genomic profiling, and the viability of liquid/blood-based biomarker testing.  In 2018 we can expect to see a continued shift among healthcare providers to rely more on comprehensive genomic profiling to map each patient’s unique genomic profile to identify alterations across hundreds of genes known to be relevant in the development and progression of cancer. This broad approach optimizes the use of the available tumour tissue and provides physicians with the most comprehensive information to help guide their treatment selection. There is particular value in this approach for patients who have exhausted all standard treatment options or for those with rare forms of cancer with limited known effective treatment options.  Canadian institutions, like the British Columbia Cancer Agency, University Health Network in Toronto and The Jewish General Hospital in Montreal among many others, have already begun to demonstrate international leadership in this area with their in-house testing platforms and world-class genomic research programs.  We are also seeing the emergence of third-party molecular information providers, such as Foundation Medicine Inc., an organization that has partnered with Roche to offer genomic tests to provide physicians with information about a tumour’s unique genomic profile based on an interrogation of over 300 genes. These external services provide options for institutions that may not have the internal capabilities to offer such testing services and for patients who are looking for more comprehensive diagnostic information. All of these efforts are striving to rapidly expand treatment options by matching patients with approved targeted therapies, immunotherapies, and clinical trials based on their tumour’s molecular profile.  The second emerging trend in the space of predictive biomarkers is blood-based testing, which offers physicians a less-invasive testing mechanism for cases, in which there is insufficient tissue available for analysis. This may also prove to be a better option when a traditional tissue biopsy is not feasible due to tumour location, when a patient is in poor health, or when a physician and/or patient simply prefer a non-surgical option. In addition to supporting initial treatment choice, blood-based testing may also offer physicians the potential for continued monitoring in the future, resulting in earlier detection of disease progression and an assessment of resistance mutations to inform subsequent lines of therapy.     A Change in Mindset  Further to the evolution of diagnostic technologies, the increasing prevalence of targeted medicines is fundamentally challenging the way cancer research is conducted.  We are no longer seeing only large randomized Phase III studies measuring overall survival for drug development, but more novel trial designs, including basket and umbrella studies, as well as smaller Phase II designs to measure the safety and efficacy of a drug.  These new study approaches are aimed to accelerate scientific advancement and are addressing the challenges that exist when the prevalence of a particular molecular alteration is so limited that traditional trials seeking a large bolus of patients simply aren’t feasible.  In a basket trial, the impact of a single treatment across a spectrum of tumour types harbouring a particular alteration can be investigated. In contrast, umbrella trials inverse the approach, where multiple treatments are studied in patients with a common tumour type but who are stratified by molecular subtype.  Close to home, the Canadian Profiling and Targeted Agent Utilization (CAPTUR) trial sponsored by the Canadian Clinical Trials Group in partnership with several pharmaceutical companies and academic institutions across the country is a combined basket/umbrella study enrolling patients of all cancer types who are stratified into different arms of the study to receive treatments based on the genomic profile of their tumours.  Studies like CAPTUR will fundamentally shift how physicians view cancer, forcing them to look less at the type of cancer (e.g., breast, lung, colorectal) and focus on the molecular structure of the tumour.  This histology-agnostic approach is one that is also gaining traction with regulatory authorities around the globe. In fact, the U.S. Food and Drug Administration (FDA) recently approved a PD-1 inhibitor to treat patients with any cancer type, provided their tumours were unresectable or metastatic and classified as microsatellite instability high (MSI-H) or mismatch repair deficient (dMMR).  This approval represented a significant departure from the traditional evidence requirements expected from a regulatory body and opens the door for further discussions and opportunities in other countries.  The final development, which seems like a natural extension of our evolving mindset around the use of diagnostics and targeted medicines in oncology is our view regarding how medicines can be engineered to offer truly individualized treatments to patients.  Though personalized medicines and immunotherapies are no longer considered ‘new’ in the rapidly evolving clinical landscape, the emergence of two types of truly bespoke cancer therapies marry these concepts to create what many consider a bold step in our quest to cure cancer.  Recently, two chimeric antigen receptor (CAR) T-cell therapies were approved in the United States, ushering in the next wave of personalized cancer care. These therapies involve the genetic engineering and reinfusion of a patient’s own T-cells to fight their unique cancers.  While approved in specific hematologic cancers today, researchers are also exploring these therapies in many solid tumours and the hope remains that they will offer a whole new way to think of treatment in cancer.  Still in its infancy, the second area of significant research is personalized cancer vaccines developed and manufactured for an individual patient based on the molecular profile of their tumours. Where off-the-shelf cancer vaccines have failed in the past, there is hope that these custom, uniquely tailored vaccines, in combination with checkpoint inhibitor therapies will succeed in transforming cancer care.  Close  In closing, while it’s easy to become discouraged by the often necessary hurdles required to integrate transformative products into current clinical practice, there has never been a more exciting time for those of who have built a career in the biotechnology industry; and there has never been a more exciting time for those of who have waited for a cure to cancer – a disease that has ravaged many of our families and has taken many of our friends and loved ones.  The reality is that science will continue to outpace clinical practice. But the promise of these discoveries can be realized if we – as stakeholders within the healthcare system – are willing and open-minded to collaborate on solutions, especially as we look at the impact personalized medicines can have in therapeutic areas beyond oncology, offering meaningful solutions to an infinitely greater number of patients, enabling them to live longer, healthier lives.  +++++  The fight against cancer innovation trust announces four new recipients of funding through its prospects oncology investment competition. Those recipients are Dalriada Therapeutics Inc., 16-Bit Inc., a cancer biomarker study at the Ontario Institute for Cancer Research (OICR), and a virus-based therapeutic under development at the Ottawa Hospital and the University of Ottawa.  FACIT’s investments are imperative in bridging the capital gap often experienced by early-stage Ontario companies, helping corporations establish jobs and build roots in the province. The wide-ranging scope of the innovations, which span therapeutics, machine learning and biomarker development, reflect the rich talent pool within the Ontario oncology research community.  Dalriada is a Canadian start-up founded with a mission to develop small molecule-based therapeutic technologies to battle diseases for which current treatment strategies are suboptimal or non-existent. With broad expertise in drug discovery, their efforts are currently centred on the preclinical development of a novel class (DT1) of small molecule inhibitors in cancers of the blood and brain as well as the development of a natural product for topical treatment of psoriasis and other inflammatory skin disorders.  16-Bit, a start-up founded by two medical doctors from the University of Toronto’s Diagnostic Radiology Program, is developing a machine learning algorithm to automate triaging of screening mammograms for breast cancer detection. Their focus is to utilize modern developments in machine intelligence to improve the accuracy, reliability, and speed of medical image interpretation while decreasing cost and barriers to healthcare.  Diagnostics Development Program at OICR leader Dr. John Bartlett has developed a diagnostic gene test to predict which breast cancer patients can benefit from anthracycline chemotherapy and which patients can avoid the associated toxicity because the drug may not be effective against their cancer.  The Ottawa Hospital and the University of Ottawa have developed a tumour-destroying virus based on the Vaccinia virus which adds a micro-RNA payload to enhance cell killing against pancreatic cancer. This targeted therapy is expected to be more precise and less toxic than conventional therapies for this difficult-to-treat tumour.  The Prospects Oncology Fund delivers on FACIT and OICR’s shared vision of advancing breakthrough innovations to the benefit of patients and Ontario’s knowledge economy.  Translating early-stage innovations and positioning them to raise additional funding supports Ontario’s competitive position as a destination for biotechnology.  Congratulations to all the strong applicants and in particular these outstanding awardees in their quest to make a difference for patients living with cancer.  +++++  Well, that wraps up another episode of Biotechnology Focus radio. I hope you enjoyed it. If you have a story idea or would like to be on the show, please email me at press@promotivemedia.ca. To see the articles in full check out the website biotechnologyfocus.ca and laboratoryfocus.ca so you don’t miss a beat! Have a momentous week. From my desk to yours – this is Michelle Currie.      

Genetic testing technology has advanced rapidly and it is becoming more affordable to perform whole genome sequencing. Whole genome sequencing can reveal heritable conditions and predispositions to disease. In this interview, Professor Steve Scherer discusses the findings from the initial cohort of 56 Canadian volunteers who had their whole genome sequenced for the Personal Genome Project Canada. The results, published in the Canadian Medical Association Journal, represent the culmination of 10 years of work by researchers. The project is ongoing. Prof. Scherer is the lead genome scientist at The Centre for Applied Genomics at the Hospital for Sick Children and the McLaughlin Centre at the University of Toronto. He is the lead author of the study. Full research article (open access): www.cmaj.ca/lookup/doi/10.1503/cmaj.171151 ----------------------------------- Subscribe to CMAJ Podcasts on Apple Podcasts, iTunes, Google Play, Stitcher, Overcast, Instacast, or your favourite aggregator. You can also follow us directly on our SoundCloud page or you can visit http://www.cmaj.ca/page/multimedia/podcasts.

“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus. The conference was full of healthcare professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. In this episode, I share highlights from some of the presentations including from Francis Collins, the NIH Director. Francis Collins, Director of National Institute for Health, shares that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project. A major aspect of the project that has impacted the future of research and healthcare was the data sharing. Every 24 hours, new data collected from the day was uploaded allowing researchers to start using the data in their own research. It would have taken years if the project had waited to release data when it was officially published. This idea of data sharing has increased collaboration between scientist, accelerating the rate of research and development. Collins also shared his excitement around CRISPR, the gene editing technology. From basic research to human trials. This is huge as people often say basic research is not worth the money, but every once in awhile something like this comes along and completely changes the field. CRISPS has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease. The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). Beta launched in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project to accelerate healthcare, specifically for individualized care. Enrolling one million participants is the goal. The term participants is key, as opposed to human subjects, as the patients are considered partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing, in 2004 it costs $22 million to sequence a genome, now in 2017 the cost is $800. “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment will help us make this transition in our health care approach. Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in it’s second phase. George Weinstock, professor at Jackson Laboratories, state there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequencing technologies (like Next Generation Sequencing) has driven this field. Research centers around the relationship between disease and the microbiome. The microbiome has additional obstacles when researching, compared to genomics, due to it’s enormous plasticity. Our microbiome changes with our environment, diet etc. One interesting research study mentioned studies Olympic level athletes to find out if there is a “golden microbiome”, so far they have found a bacteria in common with many of these athletes, M. smithii. Another advancement in the field is an FDA approved product produced from microbiome research data, AEObiome’s MotherDirt. It is a body spray that is designed to be compatible with the microbiome of the skin. James Lu, Co-Founder and Senior Vice President of Applied Genomics, Helix, discussed direct to consumer genomics and a few interesting new genetic themed apps (Neanderthal by Insitome, BABYGlimpse by HumanCode). He also talked about emerging platform for participatory research such as Precise.ly, which tracks symptoms and diseases. Lisa Anderson, Co-Founder and Chief Executive Officer of Genome Medical, stressed the potential genetics/genomics medicine has to improve patient outcomes and reduce costs of care, YET it’s not accessible to patients despite the technology existing. Genetic testing is growing 20-25% yearly, however the workforce is only growing by 3%. This gap is continuously growing. Her company aims to reduce this gap by providing real time access to genetic counseling. Anderson also predicts within 5 years every cancer patient will have germline and somatic sequencing. Andrew Ury, Chief Executive Officer and Founder of ActX, explained how direct-to-consumer genetics can be used for a potential screening for drug compatibility (pharmacogenomics). 90% of patients have potential drug genomic interactions. This is especially useful for mental health medications. An announcement/reminder that the first Genetic Counseling Awareness day will be on November 9th. Follow activities with #IAmAGeneticCounselor and on National Society of Genetic Counselor’s website.

Guest: Geoffrey Ginsburg, Director, Duke Center for Applied Genomics and Precision Medicine Bio and Contact Info Listen (6:58) Genomic medicine occuring across the lifespan