BIO HACKING VILLAGE - Hacking Human Fetuses

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BIO HACKING VILLAGE - Hacking Human Fetuses
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2018
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As prenatal testing and ultrasound technology have greatly improved, so has our ability to diagnose birth defects and genetic diseases earlier and earlier in pregnancy. Until recently, our only available options were to offer pregnancy termination or wait to see if the baby survived long enough to be treated after birth. But what if we had the capability to intervene before those genetic mutations had a chance to cause their harmful effects, sparing parents from the agony of uncertain pregnancy outcomes and saving children from debilitating diseases? In last year’s “Designer Babies: Hacking Human Embryos” we discussed pre-implantation genetic testing and embryo modification as a means to identify and treat heritable diseases, by correcting harmful gene mutations before a pregnancy even begins. Since then, exciting new research has shown that even after a pregnancy is under way, opportunities still exist for hacking the biological machinery of the fetus to alter its developmental course.This talk will review new and rapidly evolving strategies to treat genetic disease in utero – while the baby is still in the womb - by hijacking the embryologic mechanisms responsible for fetal growth and development. Examples include: - injection of a critical protein into the amniotic fluid surrounding babies with X-linked hypohydrotic ectodermal dysplasia, a genetic condition causing a lack of sweat glands and the life-threatening inability to regulate temperature - transfusion of mesenchymal stem cells into the fetal umbilical cord to treat osteogenesis imperfecta or “brittle bone disease” - in utero blood and bone marrow transplant to treat the fatal hemoglobin disorder alpha-thalessemia major - correcting deformities such as cleft lip and palate by triggering cell signaling pathways ""knocked out"" by genetic mutation
Hacker (term) Data conversion Hacker (term)
Software developer Multiplication sign Sound effect Protein Product (business) Process (computing) Causality Integrated development environment Self-organization Normal (geometry) Data conversion Codierung <Programmierung> Hacker (term)
Functional (mathematics) Vapor barrier Differential (mechanical device) Software developer Multiplication sign Bit Mereology Mathematical morphology Membrane keyboard Frequency Graphical user interface Process (computing) Different (Kate Ryan album) Mixed reality Phase transition Self-organization Data structure Position operator Window Physical system
Software developer Sound effect Plastikkarte Protein Mathematics Graphical user interface Process (computing) Different (Kate Ryan album) Thermal radiation Interrupt <Informatik> Self-organization Normal (geometry) Data structure Window Physical system
Zirkulation <Strömungsmechanik> Dependent and independent variables Arm Electric generator Smoothing Observational study Decision theory Multiplication sign Software developer Sound effect Mereology Protein Theory Roundness (object) Personal digital assistant Energy level Video game Self-organization Lipschitz-Stetigkeit Freeware Spectrum (functional analysis) Physical system
Computer virus Addition Linear regression Software developer Electronic mailing list 1 (number) Sound effect Set (mathematics) Online help Disk read-and-write head Protein Field (computer science) Mathematics Causality Integrated development environment Intrusion detection system Different (Kate Ryan album) Self-organization Energy level Video game Circle Quicksort
Injektivität Zirkulation <Strömungsmechanik> Injektivität Vapor barrier Linear regression Differential (mechanical device) Multiplication sign Software developer Sound effect Online help Total S.A. Mortality rate Protein Process (computing) Fluid Grand Unified Theory Integrated development environment Strategy game Chromosomal crossover Data conversion Capability Maturity Model
Injektivität Skeleton (computer programming) Injektivität Process (computing) Wage labour Integrated development environment Different (Kate Ryan album) Multiplication sign Design by contract Utility software Mortality rate Form (programming)
Addition Cognition Dependent and independent variables Software developer Cognition Product (business) Skeleton (computer programming) Process (computing) Causality Semiconductor memory Function (mathematics) Video game Right angle Data structure Physical system
Point (geometry) Divisor Multiplication sign Range (statistics) Online help Mass Graph coloring Machine vision Machine vision Fluid Population density Energy level Endliche Modelltheorie Data structure Fiber (mathematics) Physical system Addition Software developer Visualization (computer graphics) Vector space Normal (geometry) Video game Right angle Natural language Spectrum (functional analysis)
Point (geometry) Implementation Multiplication sign Execution unit Mereology Field (computer science) Frequency Mathematics Causality Bit rate Different (Kate Ryan album) Single-precision floating-point format Energy level Software testing Utility software Implementation Ultrasound Form (programming) Physical system Dependent and independent variables Standard deviation Channel capacity Inheritance (object-oriented programming) Software developer Chemical equation Closed set Sound effect Bit Affine space Variable (mathematics) Membrane keyboard Type theory Process (computing) Integrated development environment Video game Self-organization Natural language Quicksort Resultant
without further ado over let's move on to our next talk hacking human fetuses and here to present dr. Erin Heffley hi everyone thanks for coming um my name is dr. Erin Heffley I am an ob/gyn physician from Phoenix Arizona recently relocated to Sacramento California and my talk today is on hacking human fetuses I guess I quick disclaimer I'm not really a bio hacker I'm not a clinical researcher I'm an ob/gyn and practice who enjoys having these kinds of conversations with my colleagues to talk about the
cutting-edge science that will eventually be translated into actual interventions and treatments that I can offer my patients so I like reading about these things I like talking about these things but I'm not in the lab working on these things as some of the other people you've heard speak today might be but I hope that there are plenty of people in the audience who are who can be inspired by some of these conversations to help advance the science so again in the future there are more things I can offer my patients to help them so just kind of a brief
overview of what I hope to cover today just starting with this concept that human reproduction really reproduction or sexual reproduction is an imprecise vulnerable process and we can exploit it there are outside influences that can alter the way that an organism develops permanently or temporarily we've long known this by observing the effects of traumatic and harmful chemicals things that can influence the process and so by studying the way that that the process of human development can be negatively impacted we can maybe find ways to intervene in a positive way first to treat diseases to correct genetic problems and then hopefully maybe in the future to actually enhance human development and create better babies last year I gave a talk on pre-implantation genetic modification of human embryos and kind of where we are at in the science with that so far we've been able to modify human embryos to correct genetic diseases in particular thalassemias blood disorders that can be fatal there are a lot of ethical concerns with that there are a lot of practical issues with implanting that corrected embryo and and developing it into a fully formed pregnancy and then developing it into a healthy baby we've not yet really done that yet but just to touch on genetic modification so genes are the portions of DNA that encode proteins these proteins are critical to processes and development if you are lacking a gene for a protein if you have an aberrant gene for a protein or that you create a harmful protein or a structurally deformed protein you're not going to get the normal process of development which can cause problems and diseases these genes can be mutated these mutations can be passed on and we can also manipulate them in the lab to create new mutations epigenetics is kind of broadly the other processes outside the actual encoded DNA that influence the way that your DNA is kind of translated into these proteins and then the way it works in your body so this is a way to turn genes off and on sometimes this processes these processes are physiologic you want them to happen you want certain genes to be active at certain times in development and not active at other times in development sometimes you want them to be turned off or on depending on the environmental conditions so for example if there's a certain fuel that's very prevalent in the environment you might want to up regulate the production of an enzyme that will metabolize that particular fuel and then turn those genes off again when that fuel is absent in the environment because it's just a waste of your biological resources to produce the things to metabolize feel when it's not there and then they they can occur kind of by exposure to harmful things in the environment that can turn off and on genes which is one way that cancer can occur it's also
critical to understanding this process is understanding maternal fetal physiology so the embryo grows and develops inside the uterus and there's a barrier between the fetal organism and the maternal organism at the placenta and the placenta enables a diffusion and transport of different substances critical for the development of the fetus without an actual mixing of maternal and fetal blood so there isn't really a a combining of the blood but the the blood of the mother and the blood of the fetus come into close enough contact through this membrane that they can exchange nutrients gases waste products hormones things that can influence development this is a nice
timeline of fetal development that shows you how different organ systems are developing at different periods during the pregnancy early on you have a zygote where you've combined the maternal and the paternal DNA and you start out just with rapidly dividing cells that are all pluripotent stem cells these cells can turn into any critical cells in the body so if you take one out at this stage and development you don't really hurt the organism as a whole any of the remaining cells can continue to divide now eventually differentiate into the organism but before differentiation has happened you can remove cells or damaged cells and it's not really going to affect the second ISM as a whole and that's the stage where we're doing the the pre-implantation genetic modification of embryos over time they start to differentiate into different organ systems and then things get a little bit hairier and so you know early on and really throughout the entire pregnancy even into childhood and really up until you're like mid 20s your your brain and your neurologic system is is maturing and developing but some of your other organ systems or functional systems are only really developing for a very brief window during that period and so any any harmful alterations or positive manipulations we can do is going to occur just doing that really short period after that you're not going to be able to influence the system quite as effectively or potentially at all and kind of the most critical phase and development of these systems organ systems and kind of morphological structure of the fetus is in the first eight weeks so one kind of unfortunate part of that is that many women don't even know that they're pregnant until a lot of these organ systems have already started to develop and potentially been irreversibly damaged so touching again
on irreversibly damaging these systems we understand a lot of this process by studying the effect of teratogen so to Ratigan's are substances that act in specific ways on these developing organ systems to interrupt the normal process of growth and development and when that process is interrupted particularly in those early stages you can have critically damaging deformations of the fetus interruptions for the organ systems but again that is dependent on when in the pregnancy you're exposed and so if you're if you're exposed to a certain substance that really only affects the heart if you're exposed to it outside of the window of development for card development in the fetus it may not really have an effect there are some substances that can affect many different organ systems but because those organ systems are maturing at different stages and development you might not affect all of them depending on when you're exposed and then of course there's a kind of a dose-response influence too so sometimes small amounts aren't really going to cause a problem but but very large amounts might in just a you know teratogen scan include medications week if people have purpose they can include illicit substances radiation infections maternal health problems nutritional deficits anything that that either takes away something that's critical to development adds something that's going to harm development changes that process of translating the DNA into the critical proteins etc so going back to this this
chart you can see that for example if somebody is exposed to something that that acts on the teeth very early in development you might not actually see problems with the teeth but at that stage you know kind of at eight well eight weeks in beyond you might actually see those problems one thing to point out is very very early early in pregnancy we have something called I like an all-or-nothing phenomenon that means that during this like pluripotent stem cell stage if you're exposed to a teratogen it's either not gonna cause a problem at all or it's just gonna cause a miscarriage you're not gonna have these kind of structural problems it's either the blow is just too great for the organism to continue or you're not going to see in effect the undamaged cells are able to recover and continue to proceed with the pregnancy I'm going to touch on some famous teratogen so
alcohol is probably one that everyone knows you know pregnant women shouldn't drink alcohol alcohol can affect the way your pregnancy develops well we really I mean this is a question I get all the time as an OBGYN is this really true can i really not drink at all can I drink one glass of today how much alcohol is safe in pregnancy we know that women who are alcoholics sometimes have babies with this fetal alcohol spectrum disorder fetal alcohol syndrome which is kind of a constellation of symptoms alcohol can affect pretty much all the organ systems we don't know all the specific pathways involved in this effect but you get kind of facial features like small eyes that are wide set a smooth upper lip thin lips neurologic problems mental retardation etc behavioral problems later in life again we know that women who drink really heavily in pregnancy are at risk for this happening some women who drink really heavily in pregnancy don't have this happen at all we know that if you don't drink any alcohol there has been no case of fetal alcohol syndrome and people who don't drink at all during pregnancy somewhere in between is probably the safe level of alcohol to consume but nobody can tell you what that is and nobody is willing to perform those studies to give pregnant women varying amounts of alcohol to see who has a jacked up baby and who doesn't right so what I can say is that I would be an irresponsible OBGYN if I stood up here and tried to tell you that there is any safe level of alcohol to consume during pregnancy however as you know adults with free will and personal responsibility you can make your own decisions I can say that some observational studies have shown that there are probably no ill effects consuming seven to nine alcoholic beverages a week in pregnancy there's a great article it's called do's and don'ts of pregnancy myths and facts you look it up if you want to learn more but just to throw that out there all right another really famous example of a
teratogen is the little mite falooda mite was a medication used for various things but but ended up actually being like recommended and first actually I think it was available over-the-counter for women in pregnancy to treat morning sickness if you've ever been pregnant or know anything about it you might know that morning sickness really affects women for the most part during that first trimester so during that really critical stage of organ development women were taking this medication to help with their morning sickness and then they had all of these babies with like flipper limbs who didn't develop their arms and legs properly it was pulled off the market and generations of children grew up with this problem we didn't know for a really long time exactly how this was caused there was some theorization that it disrupted kind of a blood vessel development to the limbs recently it looks like it was probably this critical protein involved in limb development that the medication caused to be degrade too quickly so it just wasn't in like a round in the fetal circulation long enough to do its job and and enable the limbs to develop the way they were supposed to diastole Silvestre yes it's
really well known kind of in my circle because it causes reproductive tract anomalies so if you see a woman with like this narrow t-shaped uterine cavity it's very likely that she was exposed to this compound in utero this was another one that was actually prescribed to women in pregnancy because it was supposed to help prevent miscarriages and other sort of pregnancy complications in addition to reproductive tract abnormalities the children who were exposed to this in utero at higher risk for reproductive cancers one really interesting thing about this as we've found that it's probably through those epigenetic changes that this medication was causing those effect so altering kind of the way that the DNA was was processed and and transcribing and translated into proteins and this effect this epigenetic effect actually seems to be able to pass down to future generations so if my mother had taken diethylstilbestrol at her pregnancy and i inherited these were not inherited but I had these epigenetic changes that were caused by her taking this medication and I get pregnant I might actually pass those changes down to my offspring who would have the same problems torch infections you probably have heard of this before so these are just a kind of a set of infections or viruses that you can acquire during pregnancy that can cause different problems with fetal development most of them will cause like some of the same symptoms like enlarged organs rashes bounine teeth problems depending on when mom's exposed in pregnancy these can cause either kind of these structural problems with the way the fetus develops or they can cause like life-threatening infections of the fetus at birth one of the newest ones Zika virus that's recently been added to the list of torch infections causing microcephaly so small small fetal heads we don't yet know kind of what the long-term effects of that are it's too new and maternal diabetes is this one
that's becoming more and more of a problem for for my field as a more younger women are developing diabetes because of the obesity epidemic and more older women who are already more susceptible to diabetes just from age are having babies later in life maternal diabetes can cause a whole host of problems for the infant most commonly it ends up being hypoglycemia at birth so being exposed to high levels of blood sugar in utero the fetus over produces insulin once they're born and they are not exposed to this high blood sugar environment anymore they're producing too much insulin it drops their blood sugar to critically low levels we can correct that pretty easily and then you donate all ICU if we know what's going to happen however there are some critical structural problems that can occur particularly heart defects and then caudal regression syndrome which causes like mermaid baby syndrome essentially where the entire lower body fails to develop properly and this is this is a fatal structural problem with the fetus all right so again by studying
some of the effects of these teratogen zhan how the process of fetal development can be interrupted and manipulated we can look for ways that we can intervene in positive ways and there are a couple ways that we could potentially get these chemicals or molecules or whatever it is into the the fetal environment again remembering that one way of course is if mom and just something it might cross the placenta depending on what it is how big it is how how the puffy like it is so transposon soul is kind of a oldest way we've been able to do this but I've had some conversations over the past year with some colleagues about some really exciting other ways we're trying to introduce things into the fetal environment to help prevent and cure genetic diseases and and other it's just manipulate development one is direct injection into the amniotic fluid so the fetus is constantly swallowing amniotic fluid and it gets into the lungs and it gets into the gut and the fetus pees it out so if it's in the amniotic fluid it's going to be taken into the fetus and then it's actually another one direct injection into the fetus usually through the umbilical cord again transposon total just means that when mom takes something it's going to go into mom circulation and it at that barrier and the placenta it's gonna cross over into fetal circulation we've used this for a long time to treat certain conditions in the fetus for example fetal arrhythmias so we can give mom a cardiac medication like digoxin or sotalol or flea can died and that will cross into the fetal circulation and help treat the fetal arrhythmia as you can imagine though because it's also in Mom's circulation these medications are gonna affect mom too so fortunately for something like this usually we're giving low enough doses that mom doesn't have too many problems but this could potentially be a challenge when we try to treat other things in the fetus just by giving mama medication thyroid problems is another one but typically in those situations mom also has a thyroid problem so you're really just kind of treating both at the same time fetal tumors so you can actually give mom chemotherapy to treat usually it's like a rhabdomyosarcoma kind of tumor in the fetus and that can regress Durr fetal development so that when the baby's born the tumor is much much smaller or potentially gone and and that can just make it easier to operate on if necessary and then we've long given steroids for fetal immaturity so if we suspect a baby is going to be born premature we can give the mother an injection of steroids that will accelerate fetal lung development so that if indeed the baby is born premature that can help it have fewer respiratory complications at birth so
intrauterine injection again you can directly inject with a needle kind of through mom's abdomen into the uterus into the amniotic cavity these molecules or proteins or other substances but might influence the process of fetal growth and development kind of the inspiration for this whole talk was a New England Journal of Medicine article about prenatal correction of x-linked typos hydronic ectodermal dysplasia i which is a mouthful but essentially this is a condition where the fetus has a genetic disorder that prevents it from being able to develop sweat glands so it lacks the ability to create this critical protein that causes a differentiation of sweat glands and the baby is born with no sweat glands and when the baby is born with no sweat glands it can't regulate its temperature and is at high risk of morbidity and mortality from high fevers so they have found actually two different strategies for this they can either inject kind of like a recombinant protein that gets taken up or they can inject like immune molecules that will attach themselves to the receptors that trigger this pathway both of those have been tried and seemed to be effective for create like triggering this pathway in the fetus that they then develop sweat glands even though they they lack the gene required to produce the protein to have that happen on its own and then intra umbilical and
is again the direct injection into the fetus through the umbilical cord we've used this for a long time to treat fetal anemia if if mom creates immune cells that attack the fetal blood cells you can have a potentially fatal anemia and the fetus and we found that doing injection or blood transfusions through the umbilical cord can actually treat that and and help kind of sustain that pregnancy it's incredibly dangerous to stick a needle into the umbilical cord it has a very high mortality rate for the fetus we would only do this in situations where it looks like this is your last shot this baby is gonna die if we do nothing and this is the one thing we might be able to help it with but recently we have found that you can inject stem cells into the umbilical cord of babies with osteogenesis imperfecta so that's brittle bone disease these kids are highly susceptible to fractures and in the most severe forms they are developing fractures in utero so in the uterus they can't survive labor every time the uterus contracts it just crushes their tiny frail skeleton and their stillborn so this has been used and has been shown to actually reduce not only the fractures that the fetus undergoes in the uterus but also reduces fractures in childhood as well and then they've used blood and bone marrow transfusions in the fetus to treat certain forms of thalassemia so like a hemoglobin disorder all right so we've
looked at these processes we see a kind of how they're affected by things in the environment are things that we ingest we've been trying to kind of utilize that to treat diseases where we can when we understand the the biologic processes involved in the pathways involved the next step is can we potentially use this in the future to create enhanced offspring so right now you know we have a baby that we know what's gonna have a problem can we bring it to a baseline next step is can we bring it from baseline to a left just theorizing a couple different ways that maybe this
could happen but discussions at the pendant lit review cognitive function would be fantastic right if you could ingest something and know that your baby is going to be born smarter or with better memory now we know that things that women take during pregnancy affects the the brain development the way that the neurological pathways are wired and their fetus so we see this with with fetal alcohol syndrome we see this with opiate addiction we even see this with SSRIs so a medication that pregnant women take for depression those babies are known to have different wiring of their brains they they don't respond to pain in the same way as babies too weren't exposed to these things in utero we also know that certain substances can affect adult cognitive performance I don't think we know of any substances that when you take them during pregnancy they rewire your baby's brain in a way to make it smarter or have better memory or a better school performance but like that has to exist out there right I mean you have to think that if we have so many different things we can take during pregnancy to mess that up we have to be able to like mess that up and a happily accidental way that like actually creates a kind of better process again I would be a really irresponsible OBGYN if I stood up here and encouraged pregnant women to just take stuff and see what happens and if you can identify that that substance that you can ingest during pregnancy that creates smarter babies but again it's gotta be out their bone development is another one that we
might be able to influence and a positive way to create structurally stronger skeletons so bone morphogenetic proteins an induced bone production they specifically bmp-2 causes stem cells to differentiate into osteoblasts which are cells that produce bone or lay down bone structure it's been used in healing of fractures to help accelerate that you know when you know you've broken a bone and trying to replace the bone and make it stronger is there an opportunity to manipulate that system during fetal development to kind of lay down more in that stage that would improve your ability to regenerate bone throughout your life you know bone is remodeled constantly throughout your entire life its remodeled in utero you know that the fetus kicks and moves around they found that that that process actually encourages bone development and strengthening during pregnancy as it does wait you know people do weight-bearing exercise just do how fast you process etcetera so in addition to those things if we can trigger these cells to lay down more bone maybe we can create stronger skeletons muscle
development is another one that's done a lot I promise so yeah so there are actually genetic disorders that cause babies to be born with a lot more muscle mass we've also found that in in fetuses with growth restriction they don't develop the same density of skeletal muscle tissue as a normal healthy developing fetus and this has been shown in animal models where we can if we at the right time and development infuse these growth factors and additional amino acids into the amniotic fluid that we can bring these these fetuses that would have had a lower than normal density of skeletal muscle tissue up to a kind of a baseline normal level this is really important because at birth you have pretty much all of the like myocytes you're going to have the increases in muscle mass over your life span is more due to hypertrophy or enlarging of these fibers than it is creation of new muscle tissue so if there's a way we can take that one step further even and instead of bringing these like small babies up to a normal level of muscle density but actually kind of increase muscle density then you could have these super-strong children the vision is another system that I'm
sure we would love to be able to enhance and that has shown some early research promise we have found that again at the right stage in development when the eye is developing if you inject a certain vine vector it will target those developing eye cells and we don't really know what to do with that yet but we know that we can like get these stem cells into the eyeball structures there's hope that this will be used to help correct congenital vision problems and also help delay or prevent just your normal age-related deterioration and vision so here your peak visual acuity is the more around 12 to 13 years old so I think pretty much everyone here sorry you're already past your prime vision but if we could maybe prevent that degeneration or even take it a step further and an enhanced vision we're able to target some of those rods and cones if we can manipulate those in certain ways we might be able to see a wider spectrum there are already people out there who just happenstance of genetics can see a broader range of colors than the average person maybe at some point we would be able to influence things so that everyone can see all of those colors lastly oxygenation so this was one of
those epigenetic processes that you produce different types of fetal hue of haemoglobin during different stages of your life so as a fetus you produce this fetal hemoglobin that has a higher affinity for oxygen it's important because you want the the fetus to be able to pull that oxygen away from the maternal blood so it has to have a higher affinity for oxygen than the maternal blood so the oxygen is you know circulating through the material blood comes close to that membrane and the fetal hemoglobin attracts it comes on to it more there are people who have genetically this persistence of fetal hemoglobin into adult life so typically a couple weeks or months after you're born whatever process happens in your body that gets switched off and you start producing the adult form of hemoglobin but there are people who persistently produce the fetal form that doesn't seem to have any deleterious effects for them doesn't really necessarily seem to have any benefit that we know of as of yet however in people with like sickle-cell anemia if they have sickle hemoglobin and persistent fetal hemoglobin it prevents some of the ill effects of the sickle cell same for thalassemia and then another kind of promising field with regard to increased oxygen carrying capacity as looking at populations who live at high altitudes and now a lot of a lot of this is going to be kind of natural selection over millennia of living at these higher altitudes but not all of it populations living in like the Andes Mountains the Himalayas even like Leadville Colorado they found that some of these people who were in utero so like just stated it at a higher elevation respond differently even to going kind of like up and down from higher to lower elevation than somebody who was born at lower elevation so everybody here if you go to a higher elevation your body's going to undergo some changes to increase the oxygen delivery in your body but if you were born in a higher elevation live with a little elevation elevation and go back to a high elevation the way that you respond is going to be enhanced compared to somebody who wasn't born in that sort of environment so the better we understand some of these processes and how they're turned on and off and how they were affected in utero might enable us to do this at any elevation so
challenges to implementation again nobody's going to approve a randomized control trial for this many ethical concerns in general with just manipulating a fetus there are so many things that could go wrong with it you know in in any system like this we might be targeting one process and have no idea what effects we're going to have on a different process there are so many uncontrollable variables so it you know every single maternal fetal unit is going to be different in regard to moms genetics the fetuses genetics the environmental exposures Mouse metabolism mom's nutritional status all of these things are going to really influence the way that any medication or substance we we administer to the system is to be expressed which then affects reproducibility so if I find something that works in on one patient not necessarily gonna be able to give those to anybody else so it what's the utility at that point I'm gonna press are talked about and intended effects so with that I think I will open it up to questions comments I'd love to hear from people who are doing other kinds of research I've heard of other kinds of research that may be utilized in this way in the future and what one question two questions all right Jordan that comes to the microphone hi I have a question regarding the first segment of your discussion when the woman is pregnant I guess typically are that are the genetic testing isn't it done after 12 weeks or before 20 weeks or something like that and do you imagine that in the future we would have or do we already have testing that enables us to see deformities and disease at a much earlier week time period for the fetus so it depends on what it is we we do have something called cell 3 fetal DNA testing which is a kind of I guess their gold standard at this point and that can you have to know what you're looking for that's sometimes the problem is that if you know that there's a certain genetic mutation that that is gonna cause a problem and and you know that the parents carry this in their bloodline somewhere you can look for it the difficulty is if it's something that we don't quite know what causes it or we didn't know that these parents were at risk so look for it you're not necessarily going to see a but yeah we can do it's kind of like close to the end of the first trimester unfortunately a lot of like there's just not enough circulating material and the maternal blood before that when the fetus or like the embryo is so so tiny but some of it we can diagnose very early on and that's kind of the hope that if we can diagnose it early on we can fix it also with ultrasound so sometimes you can see physiological defects that we hopefully would be able to then then treat at some point in the future I mean right now if I if I get a DNA test results or like a genetic testing result on the fetus and I know there's going to be a problem it's a lot of like well we can terminate now or we can wait and see what happens and if this this pregnancy so if I have stuff birth then we'll see how severe the problem is and then we can see whether or not we can treat it at this point they're so so little we can do during pregnancy to help so you discussed if the baby has a problem give the mom meds or if they both have problems and help them both but what if the mom needs the heart medication how does the baby or the fetus handle that oh sure um we'll monitor it a lot of the time that seems to go okay actually you know mom needing a heart medication doesn't seem to have too many deleterious effects on the fetus we do carefully monitor maternal feel heart rate and just kind of adjust some medication to find that kind of sweet spot balance for other things that we know that trading mom might cause problems for the baby one thing that comes to mind immediately is like intractable seizures so we know that giving mom's seizure medication can cause certain defects in the baby interestingly women with seizure disorders during pregnancy about like a third of them will get better and have fewer seizures or no seizures a third of them like there won't really be any change and a third of them will be much much worse and so for the most part you just have it like a discussion with your patient about what's your risk tolerance level you know if your seizures are just getting so bad we need to treat you and keep you alive and like your baby's not gonna live if you don't right so yeah I mean absolutely it just depends on what the disease is what the medication will do and and some of them depending on what it is that you know if you can refrain from taking a medication for the first trimester and be okay during those critical stages of organ development giving it to you later in pregnancy probably won't cause as much of a problem how are you well I mean I'll be sticking around here for a little bit if anyone else wants to talk about anything thank you so much for your attention [Applause]
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