++♪ [THEME MUSIC] ♪
>> HELLO, I'M CAROL ANNE
RIDDELL AND THIS IS "SCIENCE &
U!."
YOU HAVE TO SEE IT TO BELIEVE
IT. USING BRAIN WAVES TO MOVE A
PARALYZED ARM.
IT COULD BE A MASSIVE
BREAK-THROUGH FOR PEOPLE LIVING
WITH PARALYSIS AFTER A SPINAL
CORD INJURY.
DR. MAX GOMEZ INTRODUCES US TO
THE YOUNG MAN WHO IS MOVING HIS
PARALYZED ARM AND HAND, JUST BY
THINKING ABOUT IT.
>> THE BIGGEST DREAM WOULD BE TO
GET FULL FUNCTION OF MY HAND
BACK, BOTH MY HANDS, YOU KNOW,
BECAUSE THEN THAT ALLOWS YOU TO
BE A LOT MORE INDEPENDENT TO NOT
HAVE TO RELY ON PEOPLE FOR KIND
OF SIMPLE DAY-TO-DAY TASKS THAT
YOU TAKE FOR GRANTED.
>> IT'S THE DREAM SHARED BY
VIRTUALLY ALL PARALYSIS VICTIMS.
LIKE IAN BURKHARDT, AN ACTIVE
ATHLETIC OHIO UNIVERSITY STUDENT
WHO WAS PARALYZED FROM THE NECK
DOWN IN A DIVING ACCIDENT IN
2010.
HE COULDN'T MOVE A FINGER.
THEN A COUPLE OF YEARS LATER,
IAN VOLUNTEERED FOR A
GROUND-BREAKING EXPERIMENT.
IT WAS A COLLABORATION BETWEEN
DOCTORS AT THE OHIO STATE
UNIVERSITY WEXNER MEDICAL CENTER
AND ENGINEERS FROM BATTELLE.
CHAD BOUTON, FORMERLY WITH
BATTELLE AND NOW AT THE
FEINSTEIN INSTITUTE FOR MEDICAL
RESEARCH AT NORTHWELL HEALTH
EXPLAINED THE CONCEPT.
>> SIGNALS IN THE MOTOR AREA OF
THE BRAIN ARE FUNCTIONING AND WE
CAN SEE THEM, BUT WHAT HAPPENS
IS, IS THE SIGNALS TRY TO -- TO
LEAVE THE BRAIN AND GO DOWN THE
SPINAL CORD OR THE -- YOU KNOW,
THROUGH THE BRAIN STEM AND THE
SPINAL CORD, THEY GET BLOCKED.
BUT THE GOAL IS TO ALLOW SOMEONE
TO THINK ABOUT MOVEMENT IN A
NATURAL WAY AND USE THIS ARM TO
REGAIN FUNCTION IN THE DAILY
ACTIVITIES.
>> READING BRAIN WAVES FROM THE
SCALP IS EASY BUT THEY ARE NOISY
AND ALMOST CHAOTIC.
THAT IS WHERE OHION STATE
NEUROSURGEON DR. ALI REZAI CAME
IN. HE IMPLANTED
A COMPUTER MICROCHIP INTO
IAN'S BRAIN THAT FUNCTIONED
AS ANTENNAS READING ELECTRICAL
ACTIVITY IN THE PART OF HIS
BRAIN THAT CONTROLLED HAND
MOVEMENT. NOW IS THE HARD
PART.
>> OUR GOAL WAS TO SEE
IF WE COULD DICIPHER OR DECODE
AS WE SAY, THESE SIGNALS
AND PULL INFORMATION OUT AND
LITERALLY READ THE THOUGHTS
ABOUT MOVEMENT IN THESE
FOLKS' BRAINS.
>> IAN UNDERWENT DOZENS OF
TRAINING SESSIONS AS BATELLE
SCIENTISTS WORKED TO DECIPHER
HIS BRAIN WAVES TEACHING
COMPUTERS TO READ HIS THOUGHTS
AND DECODE THEM AND SEND
MESSAGES TO ELECTRODES ON A
SLEEVE OVER HIS ARM TO MOVE
HIS MUSCLES. IAN MADE
INTERNATIONAL HEADLINES
IN 2014 WHEN HE BECAME THE FIRST
PARALYZED PATIENT TO MOVE HIS
HAND USING HIS OWN THOUGHTS.
THAT DAY HE SIMPLY PICKED UP A
SPOON.
TODAY HE'S ACTUALLY PLAYING
GUITAR HERO.
NOW MOVING HIS FINGERS WITH HIS
THOUGHTS.
BUT NOT JUST VIDEO GAMES, HE'S
POURING OBJECTS FROM A CUP AND
SWIPING CREDIT CARDS.
BUT EVEN MORE SURPRISING TO
RESEARCHERS, THE MORE IAN AND
THE COMPUTER TRAIN TOGETHER, THE
MORE THEY LEARN HOW TO WORK WITH
EACH OTHER AND IMPROVING IAN'S
MOVEMENT AND COOPERATION BETWEEN
HUMAN AND ARTIFICIAL
INTELLIGENCE.
>> IT IS JUST LIKE IT WAS BEFORE
I HAD MY INJURY, WHERE I JUST
THINK ABOUT WHAT I WANT TO DO
AND NOW I CAN DO IT.
>> AS AMAZING THIS IS,
RESEARCHERS SAY IT IS JUST THE
BEGINNING.
THEY ARE WORKING TO MAKE THE
SYSTEM WIRELESS AND THEN IT GETS
FUTURISTIC.
>> MORE STREAM LINES AND THE
TIME MAYBE INTEGRATE INTO YOUR
CELL PHONE AND YOUR CELL PHONE
THAT IS UNIVERSAL WILL
COMMUNICATE WITH YOUR SLEEVE TO
HAVE INDIVIDUALS FUNCTIONING
MORE SO WHILE THE MAJOR GOALS
FOR US IT SO MAKE THIS BEING
EASILY AND READILY AVAILABLE
AND TO BE USED BY THE PATIENTS
AT HOME.
>> AND HERE NOW TO TELL US MORE
IS OUR DR. MAX.
THANKS SO MUCH FOR COMING IN.
>> MY PLEASURE.
>> SO THIS IS FACINATING.
IT ALMOST SOUNDS LIKE
SCIENCE FICTION TO ME.
I WANT TO UNDERSTAND IT A LITTLE
BETTER MAX.
WHY DO THEY NEED TO IMPLANT
SOMETHING IN THE BRAIN ITSELF.
>> YOU COULD PUT THE ELECTRODES
ON THE SCALP AND DO A REGULAR
EEG AND THEN YOU ARE PICKING UP
SIGNALS FROM MILLIONS OF BRAIN
CELLS ALL AT SAME TIME.
NOT JUST THE ONES YOU ARE
LOOKING FOR, THAT MIGHT CONTROL
FINGER OR HAND OR WRIST
MOVEMENT.
ONE OF THE SCIENTISTS, CHAD
BOUTON WHO USED TO BE AT
BATELLE WHO IS NOW AT
FEINSTEIN, SAID IT IS LIKE
STANDING ON THE 50 YARD LINE
LINE AND IN A STADIUM FULL OF
PEOPLE AND TRYING TO MAKE OUT
CONVERSATION OF THE PEOPLE AT
THE TOP ROW OF THE STADIUM.
YOU CAN'T DO IT.
YOU HAVE TO GET YOUR EARS --
YOUR ANTENNAS CLOSER TO THE
ACTUAL SIGNAL AND THAT IS WHY
YOU HAVE TO PUT IT RIGHT IN THE
EXACT AREA OF THE BRAIN WHERE
THE SIGNALS ARE COMING FROM.
>> AND THEN HOW HARD IS IT TO
DECODE THE SIGNALS SO THE
MUSCLES UNDERSTAND AND RESPOND.
>> THAT IS THE REAL TOUGH PART.
IS FIGURING YOU OUT WHAT THE
SIGNALS THAT THEY ARE PICKING
UP, WHAT THEY MEAN AND HOW TO
TRANSLATE THEM TO STIMULATE THE
MUSCLES IN HIS FOREARM TO MOVE
HIS HAND AND HIS WRIST AND SO
FORTH. >> IS IT SOMETHING HARD FOR HIM
TO LEARN TO DO AND YOU SAID IN
THE STORY THE COMPUTER GOT
BETTER AT IT, TOO.
>> WELL HE HAD TO REALLY WORK AT
IT. BECAUSE AS I SAW SOME OF THE
PEOPLE SORT OF PRACTICING, YOU
HAVE TO CALM YOURSELF AND GET
YOUR BRAIN WAVES SO EVERYTHING
ELSE CALMS DOWN EXCEPT THE PARTS
YOU WANT TO MOVE AND THAT IS
WHAT IS GETTING THROUGH TO THE
COMPUTER.
BUT THERE IS ARTIFICIAL
INTELLIGENCE, THEY CALL IT
MACHINE LEARNING WHERE THE
MACHINE, THE COMPUTER IS KIND OF
LEARNING WHAT THE BRAIN WAVES
FROM IAN MEANT AND THEN IAN IS
SORT OF TEACHING THE COMPUTER AT
THE SAME TIME.
SO THEY ARE ACTUALLY KIND OF
LEARNING FROM EACH OTHER AND
GETTING BETTER.
IT TAKES A LOT OF PATIENCE AND A
LOT OF PRACTICE.
IAN IS REALLY AN EXCEPTIONAL
GUY.
>> DOES IT EVENTUALLY BECOME A
FLUID THING, THOUGH?
>> IT APPEARS TO BE.
BECAUSE NOW HE'S PLAYING GUITAR
HERO WITH JUST USING HIS BRAIN
WAVES. THIS IS SKILL PRETTY CRUDE BUT
HE'S ACTUALLY PLAYING GUITAR
HERO WHICH IS-
I CAN'T PLAY GUITAR HERO-
>> I WAS GOING TO SAY.
HE IS AMAZING.
BUT THIS IS SUCH A GAME-CHANGER,
RIGHT.
>> IT IS -- THIS IS VERY, VERY
EARLY, OBVIOUSLY IN THE
DEVELOPMENT OF A TECHNOLOGY
THAT WILL ACTUALLY BE USEFUL FOR
PARAPLEGIC AND QUADRAPLEGICS.
HE STILL HAS TO HAVE A PLUG
COMING OUT OF HIS HEAD AND
SOMETHING IMPLANTED AND
EVENTUALLY THAT WILL HOPEFULLY
BECOME A WIRELESS TECHNOLOGY SO
IT IS VERY EARLY BUT IT IS
SOMETHING AS THEY EVOLVE AND GET
BETTER AT DECODING SIGNALS AND
TRANSLATING THEM -- YOU
MIGHT BE ABLE TO GET HANDS,
PARAPLEGICS TO USE AND MOVE
THEIR HANDS AND SO FORTH AS
WELL AS ULTIMATELY GET A
QUADRIPLEGIC MAYBE TO BE ABLE TO
WALK. >> VERY EXCITING STUFF.
MAX, THANKS SO MUCH.
>> MY PLEASURE.
>> THE U.N. JUST WRAPPED UP THE
COP23 CLIMATE CHANGE CONFERENCE
IN BONN, GERMANY. VIANORA VINCA
HAD THE CHANCE TO SPEAK WITH
DEUTSCHE WELLES REPORTER
CHRISTOPHER SPRINGATE
FROM THE CONFERENCE.
>> EVERY YEAR NATIONS MEET TO
REVIEW PROGRESS MADE
IN THE FIGHT AGAINST
CLIMATE CHANGE AT THE
U.N.-LED COP CONFERENCE, OR THE
CONFERENCE OF PARTIES IS A
SUPREME DECISION MAKING BODY OF
THE U.N. FRAMEWORK CONVENTION ON
CLIMATE CHANGE.
ONE OF THE BIGGEST STORIES
COMING OUT OF THIS YEAR'S COP23
MEETING HELD IN GERMANY IS THE
UNITED STATES PRESENCE AT THE
CONFERENCE GIVEN PRESIDENT
TRUMP'S WITHDRAWAL FROM THE
PARIS AGREEMENT.
ASIDE FROM THE WHITE HOUSE
ENVOY, A SECOND GROUP OF U.S.
DELEGATES CALLED AMERICAS PLEDGE
CAME TO THE MEETING TO SHOW
COMMITMENT TO THE GLOBAL CLIMATE
CHANGE EFFORTS.
DEUTSHCE WELLE REPORTER
CHRISTOPHER SPRINGATE FILLED US
IN.
>> THANK YOU FOR JOINING US
CHRISTOPHER.
HOW WAS THE U.S. PRESENCE AT THE
CONFERENCE BOTH THE WHITE HOUSE
DELEGATION AND AMERICA'S PLEDGE
BEEN RECEIVED AND HAS THE U.S.
DIVISIVENESS IMPACTED THE
NEGOTIATIONS?
>> WELL IT CERTAINLY IS A
DIVIDED PICTURE THAT THE U.S.
IS PRESENTING.
ON ONE HAND THE OFFICIAL U.S.
DELEGATION, WHICH IS FAIRLY LOW
PROFILE AT THESE -- THIS CLIMATE
CONFERENCE, IT IS OFFICE -- THE
OFFICES ARE MUCH SMALLER THAN
USUAL AND THE U.S. DOESN'T ARE A
PAVILION AT THIS CLIMATE
CONFERENCE AND IT USUALLY DOES
HAVE A PAVILION.
THE PEOPLE ON THE U.S.
DELEGATION ARE LOWER RANKING
THAN THEY HAVE BEEN IN YEARS
GONE BY.
AND THERE WAS A COUPLE OF DAYS
AGO A SIDE EVENT WHERE THE
DELEGATION WAS PUSHING DONALD
TRUMP'S COAL AGENDA.
THAT DIDN'T GO DOWN VERY WELL.
A LOT OF PROTESTERS TURNING UP
SINGING PRO-ENVIRONMENT ANTHEMS
SHOULD WE CALL IT.
BUT ESSENTIALLY THEY HADN'T --
THEY'VE BEEN IGNORED MORE THAN
ANYTHING ELSE.
THEY DIDN'T DO ANYTHING ELSE --
WHEN THEY ARE PUSHING DONALD
TRUMP'S COAL AGENDA.
THE OTHER PICTURE THAT WE'RE
SEEING HERE IS SOMETHING CALLED
THE U.S. CLIMATE ACTION CENTER
WHICH IS VERY NEAR TO THE MEDIA
CENTER HERE JUST OUTSIDE OF
FAIRLY LARGE CONGLAMORATION OF
TENTS AND IT HAS THE HASHTAG ON
IT "WE ARE STILL IN".
A LOT OF DEMOCRATS RUNNING
AROUND THERE.
MOST PROMINENTLY PERHAPS THE
GOVERNOR OF CALIFORNIA, JERRY
BROWN.
ALL OF THE PEOPLE ARE PROMOTING
EXACTLY THE OPPOSITE POINT OF
VIEW TO THE U.S. PRESIDENT.
THE IMPACT ON THE NEGOTIATIONS,
THERE HASN'T BEEN MUCH OF AN
IMPACT ON THE NEGOTIATIONS.
PEOPLE DO MISS THE U.S. PRESENCE
AT THE NEGOTIATIONS, THEY HAVE
IN YEARS GONE BY BROUGHT
STRONG ARGUMENTS TO THE
TABLE AND STRONG
NEGOTIATING SKILLS AND THAT IS
MISSED BUT THE WORLD IS IGNORING
DONALD TRUMP'S POSITION AND
MOVING ON ROBUSTLY WITH FURTHER
MOVES TOWARD ADDRESSING CLIMATE
CHANGE.
>> A MAJOR INITIATIVE DISCUSSED
AT THE CONFERENCE TO PROTECT
VULNERABLE NATIONS FROM THE
RISKS OF CLIMATE CHANGE AND THAT
IS BY BRINGING AFFORDABLE
INSURANCE AND OTHER FINANCIAL
PROTECTIONS TO THESE NATIONS.
WHAT CAN YOU TELL US ABOUT THAT?
>> WELL THERE IS A QUESTION MARK
ON HOW AFFORDABLE THEY ARE.
BUT CERTAINLY THERE IS MORE
MOVEMENT IN THAT AREA.
CLIMATE RISK INSURANCE.
GERMANY PROMISED TO MAKE A FRESH
PLEDGE TO THAT GOAL. $125
MILLION U.S. DOLLARS GOING TO
SOMETHING CALLED THE
RESILIENCE GLOBAL PARTNERSHIP,
THE GLOBAL PARTNERSHIP HAS
$700 MILLION AT ITS DISPOSAL
INTO DESIGNING INSURANCE
SOLUTIONS FOR CLIMATE RISKS, AND
PROVIDING TECHNICAL ASSISTANCE
TO VULNERABLE COUNTRIES. THE
IDEA IS TO ENSURE AGAINST
CLIMATE DAMAGE.
CLIMATE LOSSES AND DAMAGE OR
LOSSES AND DAMAGE CAUSED BY
CLIMATE CHANGE.
JUST THINK OF THE ISLANDS IN THE
CARIBBEAN THAT IS HIT BY A
HURRICANE, USUALLY IT TAKES
WEEKS AND MONTHS OF NEGOTIATION
OR WAITING FOR MONEY TO ARRIVE
TO RECONSTRUCT THE INSURANCE
MODEL MEANING YOU GET A PAY OUT
WITHIN 48 HOURS SO THAT IS THE
IDEA BEHIND CLIMATE RISK
INSURANCE AND THE GOAL OF THAT
GLOBAL PARTNERSHIP IS TO REACH
ANOTHER 400 MILLION VULNERABLE
PEOPLE IN VULNERABLE POOR
NATIONS BY THE YEAR 2020.
SO WITHIN THE NEXT THREE YEARS.
IT IS A PRETTY BIG PLEDGE.
WE'LL SEE IF THEY GET THERE.
>> WHAT OTHER SIGNIFICANT
HIGHLIGHTS IN YOUR VIEW CAN YOU
TALK ABOUT FROM THIS YEAR'S
MEETING THAT MAY MAKE COP23
DIFFERENT THAN COP22 AND SHOW
SOME STEP FORWARD IN THE FIGHT
AGAINST CLIMATE CHANGE.
>> WELL ONE OF THE KEY THINGS IS
THAT THIS IS THE FIRST CLIMATE
SUMMIT SINCE DONALD TRUMP
ANNOUNCED THAT THE U.S. IS
WITHDRAWING FROM THE PARIS
AGREEMENT.
SO PEOPLE HERE HAVE BEEN LOOKING
FOR FRESH COMMITMENTS TO THE
2015 PARIS AGREEMENT.
AND THAT CAME YESTERDAY IN
FAIRLY STRONG FORM FROM THE
GERMAN CHANCELLOR ANGELA MERKEL
AND THE FRENCH PRESIDENT,
EMMANUEL MACRON AND THE
SECRETARY GENERAL OF THE UNITED
NATIONS.
ALL THREE SAYING THIS IS THE
DEFINING CHALLENGE OF OUR TIME
ADDRESSING CLIMATE CHANGE AND
ALL THREE ARE SAYING WE VERY
MUCH STAND FIRM BY THE PARIS
AGREEMENT.
SO THAT IS SOMETHING THAT
NEGOTIATORS AND NGO'S AND
ACTIVISTS HAVE BEEN LOOKING FOR,
A REAFFIRMATION OF COMMITMENT TO
THE PARIS AGREEMENT FROM 2015.
THE OTHER THING THAT IS KEY
DURING THIS CLIMATE SUMMIT, IT
IS QUITE A TECHNICAL SUMMIT.
IT IS ABOUT WRITING A RULE BOOK
FOR THE PARIS AGREEMENT.
BACK IN 2015 A DIPLOMAT
DESCRIBED THE PARIS AGREEMENT AS
A FLASHY NEW SMARTPHONE BUT WE
DON'T HAVE AN OPERATING SYSTEM
YET. SO WHAT IS HAPPENING HERE IS
NEGOTIATORS ARE WRITING THE CODE
FOR THAT OPERATING SYSTEM.
THE RULE BOOK.
THE RULES AND REGULATIONS THAT
WE ARE ALL GOING TO NEED TO
IMPLEMENT THE SPIRIT OF THE
PARIS AGREEMENT.
AND MY INFORMATION IS THAT
THEY'VE MADE VERY GOOD PROGRESS
DURING THIS CLIMATE SUMMIT.
THE WHOLE PROCESS GOES FORWARD
TO NEXT YEAR'S CLIMATE SUMMIT
WHEN THEY WILL -- WE HOPE -- BE
THE FINAL AGREEMENT ACROSS THE
BOARD, ACROSS THE GLOBE ON THE
EXACT RULES THAT GOVERN HOW WE
IMPLEMENT THE PARIS AGREEMENT.
>> WILLIAMS SYNDROME IS NOT
WELL-KNOWN.
BUT ONE IN EVERY 7,500 TO 10,000
CHILDREN IS BORN WITH IT.
THE SYMPTOMS ARE VARRIED AND
INCLUDE A TENDENCY TO BE OVERLY
FRIENDLY.
PEOPLE WITH THE SYNDROME MAY BE
UNAFRAID OF STRANGERS.
TINABETH PINA HAS MORE
ON THIS RARE DISORDER.
>> MEET ANTHONY FILIPPAZZO, A
6-YEAR-OLD BOY LIVING WITH
WILLIAMS SYNDROME, A RARE
DISEASE ALSO KNOWN AS THE
OPPOSITE OF AUTISM.
IT IS A COMPLEX GENETIC DISORDER
CAUSED BY A DELETION IN
CHROMOSOME 7.
IT AFFECTS ONE IN 7,500 TO
10,000 PEOPLE WORLDWIDE.
HOWEVER, ALL OF THEM HAVE
EXACTLY THE SAME DELETION FROM
A SPECIFIC REGION.
ONE SET OF ABOUT 26 GENES ON
CHROMOSOME 7.
THIS MISSING PIECE OF GENETIC
MATERIALS MANIFESTS IN A VARIETY
OF CHARACTERISTICS AND CAUSE A
SERIES OF MEDICAL, DEVELOPMENTAL
AND BEHAVIORAL PROBLEMS.
>> WHEN HE WAS FIRST BORN, THEY
THOUGHT HE WAS -- HE HAD TOO
MUCH BLOOD AND HE NEEDED A BLOOD
DIFFUSION AND THEN HE HAD
HYPOGLYCEMIA AND, HE FAILED ALL
OF HIS NEWBORN HEARING SCREENING
TESTS WITHIN THE FIRST 24 HOURS
OF LIFE AND THEY TOLD ME HE WAS
HEARING IMPAIRED AND HE HAD A
HOLE IN HIS HEART AND HE WAS
VERY SLUGGISH AND LETHARGIC AND
AT EIGHT WEEKS OLD I FOUND HIM
NOT BREATHING AND IT TURNED OUT
HE HAD PNEUMONIA AND
RESPIRATORY SYNTHETIC VIRUS.
>> AND THIS WAS JUST THE
BEGINNING.
SIX MONTHS LATER ANTHONY WAS
DIAGNOSED WITH SEVERE GASTRIC
DISEASE. HE HAD TROUBLE
SLEEPING AND CRIED EVERY
SINGLE NIGHT FROM 9PM
TO 2AM. HE SUFFERED DELAYS IN
MOTOR SKILLS, AND COULDN'T
SIT UP.
BY TWO YEARS OLD CAMILLE
HAD ALREADY TAKEN HIM TO MANY
DOCTORS INCLUDING A NEUROLOGIST
AND CARDIOLOGIST AND
GASTROENTEROLOGIST.
SHE KNEW SOMETHING WAS WRONG
WITH HER SON BUT NO ONE COULD
PUT THE FINGERS ON WHAT THE
PROBLEM WAS UNTIL CAMILLE TOOK
ANTHONY TO A GENETICIST.
>> HE WALKED IN THE ROOM AND
TOOK ONE LOOK AT MY SON AND HE
SAID I COULD BE WRONG BUT I
THINK YOUR SON HAS WILLIAMS
SYNDROME.
>> SO WE SEE THESE KIDS,
THEY LOOK DIFFERENT THAN OTHER
KIDS. THEY HAVE A CHARACTERISTIC
FACIAL APPEARANCE.
THEY ARE DESCRIBED AS HAVING
ELFIN LIKE FACES.
THEY USUALLY HAVE PROMINENT EYES
AND PUFFINESS AROUND THEIR EYES
AND LIPS AND MILD EAR
DIFFERENCES.
THEIR EARS KIND OF STAND OUT.
THEY HAVE A FLAT NASAL BRIDGE
AND FROM ONE TO THE OTHER THEY
LOOK VERY SIMILAR.
AS A RESULT OF THESE FACIAL
FEATURES IN COMMON.
>> TO CONFIRM THE DIAGNOSIS
OF WILLIAMS SYNDROME IS DNA
ANALYSIS.
ONE OF THE TESTS IS CALLED FISH.
WHICH STANDS FOR FLORESCENT IN
SITU HYBRIDIZATION.
IT LOOKS FOR CHROMOSOME 7 AND
ITS REGION.
ANOTHER TEST CALLED MICROARRAY
OF COMPARATIVE GENOMIC
HYBRIDIZATION IS A TEST THAT
LOOKS AT ALL GENETIC MATERIALS.
BOTH TESTS CAN TELL WHETHER
THERE IS MISSING GENETIC
INFORMATION ON CHROMOSOME 7
CAUSING WILLIAMS SYNDROME.
>> WHAT WAS YOUR REACTION TO THE
DIAGNOSIS?
>> NOT EASY TO GET THAT KIND OF
NEWS. YOU GO TO THE DOCTOR THINKING
THEY'RE GOING TO GIVE US AN
ANSWER TO MAKE OUR CHILDREN
BETTER AND THIS IS A NEWS OF A
VERY PERMANENT AND VERY
DEVASTATING CONDITION THAT I
KNEW NOTHING ABOUT.
AT THAT TIME I WAS THEN LEARNING
THAT MY SON HAD MUCH MORE OF A
DETAILED HEART CONDITION THAN I
HAD FIRST BELIEVED IT TO BE.
HE HAS BOTH PULMONARY AND AORTIC
STENOSIS AND HE IS IN THE MIDDLE
AND PRETTY MUCH BORN THAT WAY.
IT JUST WASN'T CAUGHT.
>> ANTHONY'S SEVERE HEART
CONDITION IS NOT UNCOMMON.
ABOUT 80% OF CHILDREN WITH
WILLIAMS SYNDROME HAVE
CONGENITAL HEART DISEASE SUCH AS
SUPRAVALVULAR AORTIC STENOSIS.
IT NARROWS THE MAIN
VESSEL CARRYING BLOOD FROM THE
HEART TO THE REST OF THE BODY
WHICH CAN CAUSE A PROBLEM WITH
THE KIDNEYS OR LEAD TO HIGH
BLOOD PRESSURE WHICH EVENTUALLY
COULD INVOLVE CORONARY
AERTERITIS.
IN ADDITION TO HEART PROBLEMS,
MOST CHILDREN WITH WILLIAMS
SYNDROM FACE GASTROINTESTINAL
PROBLEMS, HIGH BLOOD
CALCIUM LEVELS, LOW MUSCLE TONE,
LOW THYROID LEVEL AND VISION
PROBLEMS. THEY OFTEN
EXPERIENCE DEVELOPMENTAL DELAYS
AND LEARNING DIFFICULTIES AND
COGNITIVE CHALLENGES.
>> EARLY IN LIFE, ONCE THE
DIAGNOSIS IS MADE, WE DO AN
EVALUATION OF THE HEART, OF
THEIR KIDNEYS, OF THEIR BLOOD TO
SEE IF THE CALCIUM IS ELEVATED,
TO SEE IF THEIR THYROID HORMONE
IS NORMAL AND TO CHECK
THEIR URINE.
WE PLOT THE GROWTH CHART THAT IS
SPECIAL FOR KIDS WITH WILLIAMS
SYNDROME TO MAKE SURE THEY ARE
GROWING PROPERLY.
FOR EACH OF THE MEDICAL PROBLEMS
WE ADDRESS THE PROBLEMS AS THEY
COME UP.
>> HE DOES EXTENSIVE
OCCUPATIONAL THERAPY, PHYSICAL
THERAPY, A.B.A., SPEECH, FEEDING
THERAPY, READING THERAPY, AQUA
THERAPY AND IN CONJUNCTION WITH
SCHOOL AND THERAPY MY SON WORKS
55 HOURS A WEEK ON AVERAGE.
>> DESPITE HOW DIFFICULT AND
CHALLENGING THEIR LIVES ARE,
PEOPLE WITH WILLIAMS
SYNDROME ARE VERY HAPPY
AND OUTGOING IN GENERAL.
SCIENTIST AREN'T SURE WHY THIS
HAPPENS.
THEY SPECULATE IT IS ANOTHER
AFFECT OF THE MISSING GENETIC
MATERIALS.
>> THERE IS NO STRANGER
DANGER WITH OUR CHILDREN.
THEY WILL COME UP AND HUG YOU
AND BEFRIEND YOU INSTANTLY,
EVEN IF YOU ARE A STRANGER.
WHICH IS BITTERSWEET.
AND CAN BE SOCIALLY AWKWARD AT
TIMES. BUT THERE REALLY IS NOT THAT
FILTER.
THAT'S WHAT UPLIFTS US ALL,
BECAUSE EVEN ON DAYS THAT ARE
TOUGHER THAN OTHERS, YOU KNOW, I
HAVE A CHILD WHO IS CONSISTENTLY
HAPPY AND ALWAYS BEAMING AND
WAKES UP WITH A SMILE AND ENERGY
AND THERE'S NO GRUMPY DAYS.
>> ALTHOUGH NOT EVERYONE WITH
WILLIAMS SYNDROME HAS THE SAME
CAPACITY FOR INDISCRIMINATE
KINDNESS, THEY ARE USUALLY WARM
AND FRIENDLY.
BUT THEY DON'T ALWAYS RECEIVE
FRIENDLINESS IN RETURN.
BECAUSE THEY FREQUENTLY MISS THE
SOCIAL CUES FROM OTHERS.
BENJAMIN MONKABA, A 31- YEAR
OLD LIVING WITH WILLIAMS
SYNDROME, SHARED HIS STORY
WITH US.
>> I DIDN'T LIKE MIDDLE
SCHOOL THAT MUCH AND IT WAS VERY
A TOUGH TIME.
BECAUSE THE STUDENTS THERE
WEREN'T TREATING ME WITH RESPECT
AND THE BAND TEACHER WASN'T THAT
NICE EITHER.
>> HE HAD A BIRTHDAY PARTY WHEN
HE WAS IN MIDDLE SCHOOL AND WE
INVITED THE ENTIRE EIGHTH GRADE
AND ONLY ONE CHILD CAME.
AND FORTUNATELY
WE HAVE MANY FRIENDS IN THE
NEIGHBORHOOD WHO CAME.
THERE ARE THOSE WHO UNDERSTAND
AND THOSE THAT DON'T. EIGHTH
GRADERS DON'T FOR THE MOST
PART AND THAT WAS A TOUGH TIME
FOR BEN.
>> LOOKING BACK AT BEN'S GROWTH,
HIS MOM TERRY MONKABA TOLD US
SHE NEVER STOPS WORRYING ABOUT
HIM. WOULD HE BE ABLE TO MATCH THE
SKILLS NECESSARY TO LIVE ALONE
AS AN ADULT.
WOULD HE BE ABLE TO PROTECT
HIMSELF FROM EXPLOITATION.
>> TEN OR 20 YEARS AGO THERE WAS
SO MUCH LESS OFFERED TO
INDIVIDUALS AS THEY BECAME
ADULTS THAT WE HAD NO IDEA WHAT
BEN'S FUTURE WOULD BE.
AND SO TO WATCH AS HE WAS
LITTLE, MUSIC ENRICHED HIS LIFE
AND THEN THERE WAS A COUPLE OF
CHARITIES WHO MET BENJAMIN AND
HE BECAME A YOUNG INTERNATIONAL
AMBASSADOR FOR VARIETY, THE
CHILDREN'S CHARITY.
DOORS BEGAN TO OPEN UP AND WE
BEGAN TO REALIZE HOW MUCH
BENJAMIN CAN GIVE BACK TO HIS
COMMUNITY.
>> LIKE BEN, MANY INDIVIDUALS
AND FAMILIES WITH WILLIAMS
SYNDROME DEVOTE THEMSELVES TO
THEIR COMMUNITY. THE WILLIAMS
SYNDROME ASSOCIATION FORMED IN
1982 BY SIX WILLIAMS SYNDROME
FAMILIES, DEDICATE SUPPORT TO
INDIVIDUALS AND FAMILIES.
THIS YEAR FAMILIES WITH WILLIAMS
SYNDROME IN THE NEW YORK CITY
AREA RAISED OVER $1 MILLION FOR
A THREE YEAR STUDY CONDUCTED
BY COLUMBIA CHILDREN'S HOSPITAL.
>> IT IS SO MUCH EASIER TO WALK
THIS JOURNEY WHEN YOU KNOW THAT
OTHERS HAVE WALKED IT BEFORE
YOU, AND CAN PAVE THAT ROAD FOR
YOU.
IT MAKES YOU FEEL SO MUCH BETTER
TO LEARN YOU'RE NOT ALONE.
>> I'M NOW YOU HAVE ACTIVE AND
VERY PASSIONATE ABOUT CONTINUING
TO RAISE FUNDS AND AWARENESS FOR
CARDIOVASCULAR RESEARCH.
MY SON IS ONLY FIVE, AND I FEEL
THAT IF WE STAY ON THIS PATH,
AND WE CONTINUE TO BUILD AND
EXPAND AND RAISE AWARENESS AND
CAPITAL, WE COULD REALLY HAVE AN
OPPORTUNITY TO SEE SOME
SIGNIFICANT CHANGE IN THIS
ARENA. >> MANY RESEARCHERS BELIEVE THAT
IN THE FUTURE A NEW TECHNIQUE
FOR REPLACING MISSING DNA
SEGMENTS WILL EXIST, ALLOWING
GENETICISTS TO ONE DAY UNLOCK
THE MYSTERIES SURROUNDING
WILLIAMS SYNDROME.
FOR "SCIENCE & U!"
I'M TINABETH PINA.
>> THE NOBEL PRIZE IN PHYSICS
WAS AWARDED TO THREE
SCIENTISTS THIS YEAR.
RAINER WEISS, BARRY C. BARISH
AND KIP THORNE.
FOR THE VERY FIRST TIME THE
UNIVERSES GRAVITATIONAL
WAVES HAVE BEEN OBSERVED,
CONFIRMING WHAT ALBERT EINSTEIN
DESCRIBED A CENTURY AGO.
HERE TO EXPLAIN WHAT ALL
THAT MEANS IS JACKIE FAHERTY
FROM THE AMERICAN MUSEUM OF
NATURAL HISTORY.
THANK YOU SO MUCH FOR COMING IN.
I HAVE TO START WITH THE BASICS
FOR ALL OF US NONSCIENTISTS.
AND THAT INCLUDES ME.
WHAT IS A GRAVITATIONAL WAVE.
I'VE HEARD AND READ IT DESCRIBED
AS THIS RIPPLE IN THE FABRIC OF
SPACE-TIME.
BUT CAN YOU TRANSLATE.
>> IT IS -- THE EXPLANATION OF A
GRAVITATIONAL WAVE IS HARD TO
GET YOUR HEAD AROUND.
>> I WOULD SAY.
>> IT IS NOT INTUITIVE OR
SOMETHING THAT YOU COULD -- YOU
CAN EXPLAIN RIPPLES IN THE WATER
AND SAY OH, THAT IS A WAVE.
I GET IT.
BECAUSE YOU UNDERSTAND THE
MEDIUM THAT IT IS IN.
YOU UNDERSTAND THE WATER.
THIS IS A SIMILAR PHENOMENON.
IT IS A WAVE AND YOU'VE SEEN
RIPPLES.
BUT IT IS THE MEDIUM THAT
EVERYBODY HAS TROUBLE
UNDERSTANDING.
BECAUSE THE MEDIUM IS SPACE
TIME. WHAT IS SPACE TIME AND THAT IS
WHERE IT GETS CONFUSING.
SPACE-TIME IS THE ESSENCE OF
WHAT WE'RE INSIDE OF.
WE EXIST IN A UNIVERSE THAT IS
COMPOSED OF WHAT WE SOMETIMES IN
SCIENCE CALL A FABRIC.
SO YOU CAN'T PUT YOUR HAND ON
IT, BECAUSE YOU'RE IN IT.
SO WHAT IS HAPPENING WHEN A
GRAVITATIONAL WAVE GOES OFF, IS
THAT YOU GET A RIPPLE THROUGH
THE SPACE-TIME THAT WE'RE IN,
THROUGH THE FABRIC OF THE
UNIVERSE.
SO IT IS A WAVE THAT MOVES UP
AND DOWN OR SIDE TO SIDE THROUGH
THE -- EVERYTHING THAT IS AROUND
YOU. >> SO WHAT IS CAUSING THAT WAVE?
>> SO THE CAUSE THAT -- LOTS OF
DIFFERENT KIND OF CAUSES.
THE EXCITEMENT RECENTLY HAS BEEN
ABOUT TWO DIFFERENT KINDS OF
EXPLOSIVE MERGERS THAT HAVE GONE
ON THAT HAVE CAUSED THE
GRAVITATIONAL WAVES TO GO OFF.
THE INITIAL ONE THAT CAUSED ALL
OF THE EXCITEMENT IN FEBRUARY
2016 OR SO, THAT WAS THE TWO
SUPER MASSIVE BLACK HOLES, OR
TWO BLACK HOLES COLLIDING.
SO TWO BLACK HOLES COLLIDED AND
THAT AS YOU COULD IMAGINE IS A
VERY, VERY EXPLOSIVE ENERGETIC
EVENT. THEY MERGE AND AS THEY MERGE,
THEIR EXPLOSION IS SO STRONG
THAT IT SENDS RIPPLES THROUGH
THE ENTIRE FABRIC OF THE
UNIVERSE.
>> SO THAT WAS DETECTED BY
THESE SCIENTISTS.
>> YES.
>> USING LIGO. BUT
WHAT IS LIGO AND HOW DOES IT
MEASURE WHAT IS HAPPENING SO FAR
AWAY. >> LIGO IS SHAPED LIKE AN L.
IT HAS TWO ARMS AND YOU TAKE A
LASER, THE LASER PART OF LIGO
COMES IN AND YOU SHOOT THE
LASER THROUGH A BEAM SPLITTER
WHICH SENDS THE LIGHT DOWN
THE TWO DIFFERENT ARMS WHICH ARE
PERPENDICULAR TO EACH OTHER AND
THEY GO DOWN THE LONG ARMS AND
HIT A MIRROR AND THEN THEY COME
BACK.
AND SO LIGHT TRAVELS AT A
UNIFORM SPEED, THREE TIMES TEN
TO THE EIGHTH METERS PER SECOND,
AND SO IF NOTHING GOES ON IN THE
UNIVERSE, THAT LIGHT SHOULD
ARRIVE BACK AT THE EXACT SAME
TIME. HOWEVER, IF A GRAVITATIONAL WAVE
GOES OFF, WHILE THE LASER, THE
BEAM OF LIGHT HAS BEEN SPLIT AND
HEADING DOWN THE TWO DIFFERENT
SIDES, YOU ARE GOING TO GET THE
TWO BEAMS TO COME BACK AT A
SLIGHTLY DIFFERENT TIME.
SO THAT'S TELLING YOU THAT A
RIPPLE IN SPACE-TIME JUST CAUSED
ONE OF THEM TO ARRIVE A LITTLE
BIT SLOWER THAN THE OTHER.
>> SO I HAVE TO ASK YOU, JUST AS
A LAST QUICK QUESTION HERE,
JACKIE, WHAT DO YOU THINK
EINSTEIN WOULD SAY?
HOW MUCH OF A BIG DEAL IS THIS?
>> I WONDER WHAT HE WOULD SAY.
BECAUSE HE MADE THESE
PREDICTIONS, THE GENERAL
THEORY OF RELATIVITY IS WHY WE
STARTED LOOK AT THESE, BUT
OTHERS WOULD HAVE STARTED TO
COME DOWN THIS ROAD.
BUT I THINK EINSTEIN, SO MUCH OF
WHAT HE DID WAS SO BRILLIANT AND
IT IS HARD TO THINK WHAT
SOMEBODY LIKE THAT WOULD THINK
OF THIS.
I WOULD THINK HE'S BE BLOWN AWAY
AND SO EXCITED AT THE PROSPECT
OF US USING GRAVITATIONAL WAVE
ASTRONOMY AS OUR NEW SENSE
OF LOOKING AT THE UNIVERSE,
OF OUR NEW TOOL. SO NOW,
WE DON'T HAVE TO LOOK AT THE
UNIVERSE, IT WAS STATIC.
WE COULD LOOK AT THINGS AND
VISUALIZE THEM BUT NOW WE GET TO
EXPERIENCE THE CHAOTIC
TURBULENCE OF THE UNIVERSE
BECAUSE WE COULD SEE WHAT
EXPLOSIVE THINGS DO TO THE
ENTIRE FABRIC OF THE UNIVERSE.
>> WOW! JACKIE,
>> THANK YOU SO MUCH FOR COMING
IN AND MAKING IT ALL CLEAR FOR
US. >> YOU'RE WELCOME.
>> AND THAT IS OUR SHOW FOR
TODAY. THANKS FOR JOINING US.
I'M CAROL ANNE RIDDELL.
WE'LL SEE YOU NEXT TIME ON
"SCIENCE & U!."
♪ [THEME MUSIC] ♪
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