Genetic Testing Through a Lifetime.  A free Webinar from NF Mid-Atlantic

Genetic Testing Through a Lifetime. A free Webinar from NF Mid-Atlantic

Hello, I’m Barbra Levin, Execuive Director of
Neurofibromatosis Mid-Atlantic. Welcome to “Genetic Testing Through a
Lifetime”. I want to thank you so much for joining
us for this very exciting and informative program. We’re very happy to be sponsoring this educational event. Because we have some folks joining us
today are hearing impaired, I have a written down my opening remarks. We will provide that closed captioned
version as soon as possible. NF Mid-Atlantic is a non-profit
organization based in Baltimore. We’ve been around for thirty four years and we remain committed to our founding principles supporting
people with NF, their families, their caregivers, their
circles, and anyone who has an interest in NF. We’veembarked on a special effort
this year it to help combat the isolation that can occur when someone is facing an
incurable disease such as Neurofibromatosis. a few put items for a webinar our next webinar will be on september
twenty eighth at eleven a_m_ eastern time help with your obsessive-compulsive
disorder you can sign up at our website tapia tapia de pw that anna mid-atlantic at all for those of you in the
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and to our escapee argue housekeeping items on your right you have a question pain simply type in your question and click
send at the end of the presentation we will
do a q and a session and take as many questions as we have time for i will be giving everyone what doctor
louis speaks but feel free to write your question by tomorrow i will be posting the
complete presentation of our website for download w_w_w_ that an ethnic atlantic dot org it will also be on our utube channel
great gabby dog you can review all are archived videos there or on the home
page of our website wiki lewis is a science writer with a p_h_d_ in
genetics she has published more than three thousand articles and is the
author of the textbook human genetics concepts and applications
now in its tenth addition assured book human genetics the basics skull on thirteen human anatomy and
physiology textbooks and a novel and essay collections the forever fix gene therapy and the boy who saved it
its narrative nonfiction and will be a documentary film doctor louis is genetic concert cary
grant medical group in schenectady new york and teaches jenna thanks for the
doctoral program of the old in march bioethics institute of albany medical
college she guessed logs for scientific american and has a new blog d_n_a_ science at public library science shit she is a hospice volunteer frequent public speaker and it’s active
with the american sav society acumen genetics dr weds doctor louis this website is
w_w_w_ dot ricki lewis dot com and cheese at ricky willis on twitter a personal endorsement of the forever
fix i read this book endless redid and courage everyone to get a copy now i’m anxious to see where does your
doctor louis but before that time i’d need to mention that enactment atlantic survives solely
on your generosity if you appreciate this educational
program please consider a donation in any amount go to W W W that an estimated slavic dot org we’ve made donating very easy please indulge just one moment lamp
return this webinar over to dr ricky clueless thank you again for joining us hi intricately thank you for joining me
today uh… your genetic information is
present from when you were a fertilized egg and it will be there for several years many years after you
die and for this reason it’s comparable properties genetic
happening at various different speeches about the human experience okay lecture will be i’ve heard of it overview of the
different types of of genetic had that we’d be contract if you take in aging that according to call then you
may have to be notified similar to this one it shows the three what we call
modes of inheritance but i won’t focused on this the illustrated one shows are the formal
respective inheritance babe rear diseases fit into this category it is the bijoy shinrikyo carrier parent
they’re healthy happy child who had looked at me a typical health of the arctic
heartbroken thirty pax the keep up with a lot of ben deeley
inheritance each up their children at the one-in-four chance aka inheriting
the communications on the left of the plight of the few
other modes of inheritance and autosomal dominant paradigm which is europe are born without the one-parent had the condition and each offspring faces anyone into
chance of inheriting the patient in excellent respect that inheritance the females are the carriers
and the mail are affected with predictable frequently genes encode protein that if what they
do and it the protein that is responsible for whatever the particular
treatment eighteen and cause the protein after at
the cladding after so if there’s a mutation in that gene than the person
may have weeding type of the purchase order but most of the things that make most of
it are not caught but there is an single
gene but rather they are the culmination of increased rest sociated within have heretics several or
many peeps gene as well as environmental influences some
of which fortunately are controllable uh… the types of genetic tests are
summarized on that and it made me feel like a lot of
information that one articular supplied by a dime it’s kind of a summary of out
the rest proc the types range from all cannondale the first half of genetic testing a
classic one based on length of the doctor and other health professional no
certain collection of pet them it matches what they know about i think
the car broke that powell of childhood failed to gain weight and
have bulky sweat frequent respiratory infections might
trigger he aftab years ago today at the press for newborns um… inborn error that might have a
little show up at bird will go over all of these in a little more detail in a
minute single gene mutations in the one-sided
mentioned on the path y someting just increased flexibility of
getting a particular located telnet and that leads to a great deal of this
information the proper one and two uh… breast and ovarian cancer genes
for example well greatly increases the graphic that
a woman or man may develop the breast cancer but it’s not one
hundred percent and in fact if you can’t sort of on your ethnic background weapon
risk actually has an eight bony or economic climate
acceptability jeanette apartheid minute up until a year ago ago many genetic
studies were called gyi a horrible acronym for genome-wide appropriations
study and then studies ab basically showdown collections obscene that after variant or present near eighty registered
something code every five the data and type of technology is sort of been
supplanted by direct genome frequently keep repeat in the d_n_a_ frequency of
me on the right the d_n_a_ frequented eighty the g throughout the genome are scattered
shortly please such as eighty g_a_t_t_ agency and every component valve credible
language other than the genetic code itself measuring that repeat and comparing the
number of repeat among individuals but they do of a lot of different fic testing that’s
done on d_n_a_ speed next example paul account frequent
thing and hold genome sequencing are pretty
much what dominating the field of genetics right now the ac home is the part of the genome
that held felt the how to make protein and it sounds a little creepy but at the
only one percent of the genome harassed are the control so in order to really industry and going
on we need to be doing old senile equipping but in the meantime he excelled frequenting it’s done with
chip microarrays that have studies on them little pieces of d_n_a_ that correspond to all of the protein including parts of
the genome so they can provide a tremendous amount of information okay maya screen-a-pro ten okay here we go um… that example of a single gene
burst into the hall acecomm equipping evan out a likelihood of comparing
cliff’s notes poorer pay the wizard of oz to the entire book so the active helmet for what we know now the most important
part and it’s bronwyn aids president cannot find right now belittled by on the left corey hi my
book about gene therapy department his p_f_ labor congenital amaro that right
through it a former credit he replied yet at the time that he was protected i
think about twelve different forms of lp a were known each one caused by a different gene and
cory was lucky he had one of the more common forms and genetic test results
came back to back that and that not wonderful but at least wonderful to
know what’s wrong with you well cabin on the right here in dreary
cold he had every type of the book to try to
complain complain that they can propel decline and finally his entire expelled frequent
and last november thirteen was identified but i’ve written
about him quite a bit heap we’ve been incredible little cat and at
that point that parents but i don’t know him and interestingly because if you can’t be developer
incredible musical daliberti year anything and anti-nafta though of people with the
blinded tend to develop their other other sent that to get along in the
world but either two little boys and credit close to have benefited from from
genetic testing so i would like to go through fifty
times went to her uh… b try to keep my phone before contraption their something
called comprehend carrier passing there are tests now for nearly five hundred
defense of childhood diseases and the goal here is to test people before they
have children to find out that they are carriers or the named it the an inequity
each child had to be one-in-four chance of having the condition the diseases backed up before are highly
penetrate that genetic jargon for if you have any patient it’s a
pretty good chance that you got a happy located picnic scrapper seventeenth you can’t have a
mutation that purchase sheer luck or the protector of the fact that the second
scene not actually have the effect that kind
of all positive would be a developing all that work the comprehensive carrier happening baby on pain organization that’s been
around the nineteen eighties called store you shoreham they are in the
orthodox jewish community in in brooklyn new york and for many years they’ve had a system that and not a monthly perhaps young
people or jewish genetic at the group and it’s two people planning to marry
carry campaign these gene your poll that patient find an alternative types at the top
shannon or not having children are finding different partners and help a little hard work but it has
worked fairly well and at the direct result of to reassure
unpaid tax pretty much gone from the ashkenazi jewish community the comprehensive carrier testing is to
try to intervene before people succumb to hear it a little another intervention a little
bit later is something called pre-implantation genetic diagnosis i know that the latter information being
thrown at you here but this technique if the developed in
nineteen eighty nine it appears in the news every few years that brand new but
it’s not occur if a couple of having in vitro
fertilization some of the fertilizer agarwal out that
the pipeline so that they foreman eight help embryo and because of a quirk of mammalian
development still can be removed from a detail
embryo and protected edit everything look ok seven remaining self to be implanted in
the uterus and they can go on to develop into a baby if the embryo hadley inherited gps um… it can be discarded most parents
donate packed embryo or bird arthur tour
developed themselves but again if it’s not a little baby in a
path to a bit in one cell that would be ordered are used for research pre-implantation genetic diagnosis if
used to generate what are called behavior
doubling any precedent here at the nineteen ninety nine when the little girl named molly max was
dying at and coney anemia and her parents conceived her little
brother adam at the match immunol based on the new customer max that way
for she wouldn’t rejected cord blood himself and he all
but didn’t captain connie anemia though ni conception and birth at adam paper
wife molly and these people were given a lot of plaque
on the today show i remember the afterthought but now with a fifty done
more often than they would be pinned a novel by jodi could call about this whole idea figures dublin though the uh… pre-implantation genetic
diagnosis is increasingly being used within teacher part of the
nation people back the embryo most likely make it slideshows some familiar and unfamiliar
technique and they have to keep it has been around
for decades cory o chorionic died sampling it than a little
bit earlier in pregnancy tapped by ten weeks and that is a little bit more risky but
if they’re out for a while to do when it’s never really been developed
people felt sorting it’s impossible to get people valves from the maternal
circulation for many years but the technique is never pin inexpensive enough trick to be very
widely adapted and party that was from one of my tax
books shows they carry a type of food the chart of human chroma now back when i was in graphical we had to
take pictures and you can actual thief with these charts but now quest computer aka microscopes to
company-owned smokestacks writing his technology-based
detecting people d_n_a_ in maternal blood because it’s not very invaded by other than that the trip
to the woman’s again the basement the technology effect fetal
d_n_a_ tends to be shorter and maternal d_n_a_
so it can be defined collected and this can be used to look for
inherited defeated it computer chromosome condition touched
down syndrome it can be used to check paternity and really important that can be used to
check for new mutation uh… with a new mutation p field has uh… condition that didn’t
because either parent mistake to happen for example implements more fit them
with the parents will be at normal height if they keep that give birth to a
nautical dominant child who have worked with them be costly mistake occurred in the firm
or the act not in the mater or the father fit into the technology that will be
coming down the line quite a bit uh… newborns screening have turned on
for many decades with a very simple pat called the capri pants it is blood sampling from the hue of the
newborn on usually the third day after birth an analytical cemetery technical met
spektr octopi if you’d data like the molecule in the
child fly through it usually not to get a big twenty that
knapsack it’s just a blurred cheaper deepak deepak inborn errors with a
couple of them and the ones that are included tend to
be the ones that we can’t treat fierce really like to know point and knowing
the horrible long name to be that there is anything you can do about it newborn screening began with a screening
and i think that the deeper she’ll keep oriented sneak peek at you which untreated carpets profound mental retardation but at the special diet toward birth the
child has a normal electro there are several out there conditions that can be treated that way
well there at all but the papers published
about looks sequencing the entire etc home of newborn for even
detected and leaflet bioethics students are acutely arguing second for the photograph on the left shows that
there’s a movement of people who object to the newborn screening and to me they
found somewhat paranoid and think the government is out the two
mysterious research on their child d_n_a_ the point newborn screening dateline
that it and that’s why it’s john uh… there with an article in the new
york times from uh… november tibetan eight called up board to run
little and get petra for exchange and this exemplified how i think some of the genetic tests
are done for trivial reasons over the past based on one particular
gene staring into that seems to be more
common in elite actually touches sprinters than in people who
don’t have any athletic ability such as right now um… accompany marketed the path and
uh… the article about love at new york city parents who were using it to figure out what that it takes like
accor or not i’ll start at my online courses with go because really gets people talking so i think that uh… if you think the
technology should after kid what they want to play in subject them to attach but that’s just my opinion uh… back in twenty ten berkeley the
univeristy at berkeley wanted past incoming freshmen three particular trade lactose
intolerant alcohol metabolism folic acid in the tablet them it is really important but the parent or
are they really pretty old happen that very accurate but the fact is that they would come
coercion patil coercion and bob look at the freshmen were made to feel that they
have to participate uh… it was not done in the medical
betting at all again the new york times covered it quite well so economy was not really important that
there was a great deal of objection and reprogram the pulpit early before it
could get underway i think it’s kind of habitat dangerous precedent but then again my own student and one of
our we could go over the director consumer genetic testing company some of them have elected to be aptitude exterior but all ages d_n_a_ testing to provide
information about ancestry replica an evolution go to that account transplant but the health care orbit debasis out these taxapad fairly temple affect the more like d_n_a_p_ clinton between individual or
groups more recently they shared a common
ancestor gates can be applied to the forthwith
study because mutations take time to accumulate and profound change mutation rates are known something that
can be extrapolated i’m starting to be a at the end
evolution studied i think a particularly fascinating comparing d_n_a_ sequences in file black
material for example has shown that their are certain percentage of scenes
from the end of paul in european genome today and i applaud a few weeks ago ah…
padam contemporary at and in the end of of
call that the needs of them their d_n_a_ show that the people
premier kinney and the um… i’ll show you never be ginny today so we can learn about the prior to the
cuban to me before we did by comparing d_n_a_ sequences um… d_n_a_ it also uh… used in
forensics where the repeat or looked at to compare individual and um… that in
nineteen eighty eight i wrote the cover story for uh… discover magazine about the first rape
conviction based on uh… these repeat began a captive blues the
technology developed in the united kingdom ancestry to africa particularly
interested interesting cramped gave a lecture at family tree d_n_a_
several years ago where i’ve met many groups for the family who had undergone
genetic testing and one story i wanted it to help a
company it was one of the most movie example
cooperative if you put genetic testing farewell a family who the younger people in the family had
elected happy camper to catch just make sure they were all related to where they
thought they were i’ll be there at the group within ninety
six year old man his genetic testing repeal that he was
not related anybody else though the elders other than him got
together and they decided to ever try to help
them significant higher activity with field on the family that he was raped me and what the people to help me with that
it many times and in many places weather will baby left from or or chavan
cortices without parents another family will take the child and
endeavor to help him or her that they are not the biological parents that there are many many cases that
touched unofficial adoptions and d_n_a_ testing to head with the elec fill in this case it with the five th
that bandwidth much better off not knowing that he
could he would’ve thought he could tell why so that was an example of how you have to appoint logic and
compassion to genetic testing at well it’s just
looking at felt okay switching gears a great deal there
are several companies that do direct to consumer genetic testing uh… capital that followed by the way
side or being burst into other companies but the one
that has persisted called twenty three in the it’s a wonderful wonderful website with
all sorts of information and isn’t state-by-state in new york
state where i am you’re not allowed to take their tax cut in tel aviv state
they are and their term profits in place now that
may be f_d_a_ bulletproof their testing some of the trade too trivial such as
our caller whether you can pay theater didn’t
broccoli or not and whether you have sticky wet or dry your whacking so these are what i consider somewhat
trivial trade specially the eye color when you come with their
psyc twenty three may have thought that that perhaps for a lot of really comand
orders and that is important because heeded
generally not single chained to people and the only way to figure out which
gene contributes movies the to look at a lot of people at twenty three may have a built-in huge
quiet page and in fact with all of their database
they were able to identify new gene behind parkinson’s the in about
nine months it with work that might have taken regular grant funded research may be a
technique to do so twenty three in the sort of started
out as of the bad guy if i remember when they were introduce and at different
company with introduce at the annual genetics meeting alpaca back eight years ago maybe long
ago but they kind of have to prove that
they’re really quite valuable after all and they’ve done wonders for educating
the public about genetics moving on in the life and uh… oppenheimer’s these spirit
eighteen called april lipoprotein before and if you have one copy of a mutation
in the gene it mean to have a three fold increased risk of developing alzheimer’s
disease if you’ve got indications that you one
mutation and each copy of the gene u_s_f_-fifteen called increased in risk of developing opera versity for the big question is would you want
to go most people i’ve spoken to say they
would want to know but i with never want to know it wasn’t my future because
every time i displacement cell phone i would think of
the contents of that i felt once lift that way but you know but it’s
a way for the youth pastor kurt not i don’t think i think he’s number two
party quite enough even really known about the connection it yet welfare reform imaging technology long
that will provide complementary information that may actually be more important um… moving on at the end of the wife and probably the
most important people in genetic testing or those with with pat their one
hundredth birthday centenarians and there’s a study going on at the
tufts university on the people and on some other place well and bear important because they’ve made
it they’ve done something bright they’ve been healthy and it would help all the
you know what paper right so far restrictions that identified
single teens that are very important in eighteen and that you might expect these involve
immunity hookups which have eleven now michael
which have to cancer lipid metabolism response travel and
anti-oxidants so far it’s been found that what people
don’t all share never having smallpox and never having had collected the interestingly locked up in the past
cancer which i thought was really good news of having a cancer now because it means that an awful lot of
people with within survived cancer people with past one hundred we’d have
to get there my grandfather with two hundred and preeti etc ourselves it can happen finally genetic testing can be done long
after you’re dead and that leads to filling in for the
whole in the history such as whether jesse james’s body and his grave looks
really check teaching which i think we could actually work either romanov family perhaps one of the
most famous example of d_n_a_ testing that helped elect in a
fight the people in the grave by comparing
them to modern-day relative to do with them uh… special type of mutation in the
might occur during d_n_a_ in the room in our family and i have to have an
appointment another famous tapes with um… thomas
jefferson it’s eldest son being easton being the uh… offspring
opera slave valley having that was confirmed
with d_n_a_ typing on the panel l_ y_ chromosome and that let do some wonderful book and
film pinatubo extended family get together once a year
to calibrate your heritage and be final applied um… i think u r l for credible equally but not totally
fictional account i wrote for the plaintiffs the american
blog early in the bummer about what it would be polite in genome sequencing with required by law at some point early in her live her even
before birth and then that information with use track our lives for years just sort of like in the film scatter cup so that’s one thing i wanna kind of get
everybody thinking about boyd having much a technology p an invasion of privacy
witopia opportunity for people to paramount or would it be something that would help
us anticipate health problems and perhaps take care of them before that surface so i think that one more so i just uh… shameless plug for all of my book um… the textbook in the lower right corner
is seemed very expensive because it x book i broke a little book about that because
it’s extremely in a couple of days and have potentially that payment formation
without the real pretty pictures its architectural highly readable it’s
not a pack for chronology the picture next and then of course
forever to pick up a story about the little boy and one of the early live who with fewer definite flying that with
gene therapy it’s a pretty amazing story the little
boy four days after the gene therapy with a philadelphia filth and he looked up at the skype because
the other papers screaming about a hot air balloon the screamed because it was
the first time in everything they’ve done and that the house the book begins so i
think that uh… the and then i’ll be happy to take you a question thank you rikki that uh… that was wonderful i’ve learned a lot we
do have to play um… and high encourage any of our attendees at this point to
write more uh… in your question pain on the right
hand side but in the meantime indulge me for a second uh… had mentioned about basic your basic tests tax human
genetics the basics not costing as much to you a bit of a price how you can find them on amazon howard human genetics one news somewhere between sixteen and twenty
dollars eminently affordable experi uptodate com attack talk about a hundred and forty
something i had nothing to do it without prices on and it’s not and the forever fixed on amazon epithets next in dollars but
the paperback coming out january eight okay cheaper congratulations dan any may not attend or or whatever of course um… well let me go to the question some of
them came early in and that you may have the answer to these questions but let me
ask anyway uh… with a question saying asking ken genetic testing be done without results shared privately and without information in medical
records and without insurance companies snowing about the rest of the results test or the results that’s a really excellent question not
already served you know and i think it with with the early days
of the press kamchatka patients who come in and take it under a different name too that it wouldn’t go into the medical
record that was one way around it um… with a twenty three and the mike
didn’t he took their she took a crack a one-time after twenty three of the
people who are cheaper than taking it through accompany them fail to pass um… and she used to teeth made of the
named because she didn’t want it’s getting out but you’re not a part of the he lives
for the anymore there’s been a lot of up legislation ct contact in protecting people now you have to talk about other
victoria now if that’s a good you are david at next back questioned someone always asking uh… about the cost of
genetic testing it gary bypassed it could be really
extensive uh… com are going to go down but for now and you know if you get to
the entire proper wanted to change frequently without thirty four hundred
dollars it’s myriad genetic frequently company
that patented pacino thing in the new comfortably for one that i can remember
fighting back over whether to capture dot if you have
thirty four hundred dollar before the entire sequence they were quickly you can’t get
insurance to cover it and if you’ve got a strong family history up certain cancers appearing at a young
age insurance vote i think will cover the pat you can take a short version
upbeat brackets have that look for two of the most common depiction what might student did when she took a
test of twenty-three in me and i believe that with only about ninety nine dollars because it’s not a medical packet to
pick up twenty three and a prophetic educational an informational but my buchanan result slavery in the
eventually spoke to a genetic now popular agitate for and she did a whole bunch of research
and found out that the exact perhaps but pretty much the pain everyone premiering at genetic the one to twenty three and he was not a
petite equip it was just looking for the common patient but many students new which he takes her
mother had so she would be able to help get that
epixtech before for laughs private will become again and you can do things uh… copy well-liked jewish genetic the panel
which i think now nineteen he’s ana though the private area and they are coming
down and you can find some of them online for example hereditary yahoo com
account barely common single gene disorder and detailed
google that there’s an organization between you can’t do testing kennedy genetic counselor to interpret
results for the red apparent democrat republican for example i think it’s about ninety presented the
people with the mutation gold ever actually
kept at though that can happen so you need to check it out for tell you about the with good people
coming in greatness thank you large trying to go through uh… our questions we have a lot during beat uh… excuse me on i’m not very good at
this during the pre implement oakland pgp other thank you testing he said that one cell is taken out and
tested what is the percentage that the old tell one of the other seven
cells contains mutation that you are testing for proquest you’re looking at normally
combing member exactly inactivate they knew because both parents both
parents scarier than they knew that the capital girl with etc though each embryo they can cheap would have a one unfortunate know the embryos that with a one-in-four
chance of being completely with application a-one impor tant uh… having the ditsy and it to or wanted to
do chance of being a carrier like here no at the family of a book or were able
to put a little boy became redevelopment adam because he didn’t have the disease and matched help purposes but the
pictures but with the bilkul court what would be able to say that’s why i think that’s a lot of
global dominant condition the chance would be one interview well thank you another questions coming i repeat are
uh… until i could talk show hosts hard to children been diagnosed with an ethical one both are doing well and and have a few
outward physical signs of the two sorter neither ship and neither me or my husband have
signs of an f_ one nor do we do have a family history of it and that’s what it we are waiting on strand number one
genetic testing i don’t know if i said that correctly for our fifteen year old son and are near twenty
year old daughter may be tested based on his on her results how often have you seen these ides as
the geneticists at the odds tooth spontaneous an f_-one mutations are one in mind at would agree with that that pretty
incredible if they’re not planned act that that you were to happen actually have to be
effective people mild but it could be a little brown spot on attackers something
i’m sure you’ve extent but i would expect one if you
have got it and it could be a pain uh… not cuba applications but they don’t have
the phenotypic it that would happen if common or
network nine million quickly that they cut with his wife to get the other
children template as well you know if it was just one childlike
make sure that the new mutation but dot jpg i’d say the attack ucla family for
exiled uh… happpy go to the event these companies have totally week
property thank you uh… another question all that is just making relative to
where variance contrarians of uncertainty mexicans who just provide measurements may not be
able to provide interpretation we took a wonderful audience out there
there much smarter than i a m but did you get that question yet they can actually make a graduate
student the one who had the casting for the uh… brac lynching twenty really seated at the effect on this variances
uncertain significant it’s really really scary it something
that’s been around actually for a long time you have a practitioners video follow your genetic test results came up
that normal but we don’t know what it means then you’re supposed to live with
that so the truth something that’s been
happening more and more at what we’ve learned more about the genome terrible lot
apparent everyting attendant provisional type of a problem and they’re going to be what we think
that don’t have any meaning and going though that they have been constantly
undo strata um… there have been around for a while
because mam friend of mine smile little boy little boy it’s now at the retreat
collected many years ago called me up when they were pregnant
because paired they came back with an abnormal family or retell so it’s not
just the new technology abnormal and their results showed that it was the
forty and they would have been wrong with the white chromosome that infection
at the white chromosome have been inverted so my first reaction what tell my friend the father
that anything at wipro bpo because if you could mean for dependable
boycott of prohibit it wouldn’t be a problem turned up at the father flight crew of
the public normal but then what i did with that in the
literature before computers and to try to find if anyone who’d been reported within person tell arthur with
a little boy conversion wife and i i couldn’t find anything so they took their chance that and they
went ahead with the pregnancy and the point if i decrepit he’s got an inverted y_
chromosome and it’s possible that will have an
infertility problems down the line it that inversion interrupted a particular
teaching but medic medic at their chances of a really
really nervous for a long time adaptive genetic finding and all i could pick at
the time with if they didn’t know that would not worry you know if you can get the information
many people want to get it so gathered at the really great questions
uh… area uncertain significant happened with breast cancer testing well
and i don’t think i would ever want to go through that people could elect nothing like a prophylactic
mastectomy when they’re not even sure that need very intense the disney and at the terminology extremely
confusing decommissioning genetic change for the part of the negative connotation whereas variant it could make it work
for genetic change where we don’t know
company think they’re though it is really confusing old uh… i think we have time four oh one more question it is uh… some one of our listener says hello i have three cafe
lace spots and not six but i have to head to tumors removed from nerves and i have a all the other
symptoms but they are not sure that i have been any forum because i had a similar apana i don’t have the
six cafe au lait spots do you have to have six or more to have this okay you need to ask a position that i’m
on that qualified to give a clinical diagnosis but is reminding me a great deal about
the lieutenant in perfect at this question and the question about the the
couple with three children and that is there could be another
jean-claude van damme sentences than a point in the next email without their jennifer in perfect at the
genetic cities where the bones break very easily and in fact feeding report
with airport with broken bones and in the past parents have been accused of child abuse
secret one child who have repeated fractures with a lot to do with three children
with the fractures arrest the parent usually end and a
contest ticketmaster after janet that the
protector now for a while there was only one gene
that with known tell parent they help that genetic testing that
genetic tests show that they keep at all alright they would be propagated and then and
packaging with overthrow parents didn’t have either of those mutation he would
be proper cuter refuse now we’re up to five gene known to cause
theater the factor so i think that this some other
condition that happens and covered yet the good news for patient is that it if
it’s your situation perhaps he can get involved in a research if they don’t pay
for anything which would be helping humanity and and
helping yourself but if you heard the m genetic news from
last week about the genome sequencing i stayed away from that exactly progress reports to collect the grouping
cupertino and eugene will be discovered over the next center twenty years so like bob that it something else cal
there that looked like it now but you still
need the position to make right now thank you said that was our last question but we’d
we did get once short question and and doctor louis this may not be uh…
question for you to as much as something that i’m may be able to report on but
uh… i’m going to ask it to you uh… someone once said to sanitize
balance issues as well uh… i have no idea yes ennada and that’s why i would like to
report uh… that that is one of the more then we are not physicians here we just collect information give support
uh… provide and provide that’d provide information session such as this
and provides added uvm referrals one of the most symptoms that people do report to blast our balance issues um… particularly when tumors are in brains org near in the years certainly with a m f to
balance is aid particular issue so as a as i said that would be a request question i do think that some people i want to ask you dr list some
people will uh… have questions after the weapon r or would you mind if they send them to
use and i would forward them to you brightness so they can email me and that is great uh… i thank you very very much the
suspend wonderful i want to tell i want to thank
all our attendees and i was certainly one i think doctor ricky willis
encourage you altered by the forever fix if you don’t go out and spend a lot of money on the textbook or a lot
less money on human genetics the basics and follow her blog i’d also one to reiterate pat this entirely this into higher webinar with including slides will be tested on our website as of
tomorrow step utep utep you dot an ethnic
atlantic dot org emmett also can be found on you to i
thank you very much i wish you all a good afternoon i hope you will consider joining our
next weather as i mentioned uh… obsessive-compulsive disorder and
in october i buried an f_ related webinar on optic gliomas doctor lewis thank you so much for your
time and thank you for a minute and thank you for a wonderful wonderful
weapon are and thank you all for your time feel free to that visit our website and join us again i’m going to um… close out this weapon
are now and i think he will and have a good morning it back

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