Sisters battle rare, fatal genetic disease found in 100 people worldwide
YOU ARE WATCHING NEWS CENTER FIVE AT 1100. AN ESTIMATED 100 PEOPLE WORLDWIDE HAVE THE SYNDROME TYPE C. 3 LIVE IN BELMONT. ONE LOCAL FAMILIES STORY OF COURAGE AND HOPE. FOR BELMONT PARENTS PAUL AND NANCY BURKE, THE WAR IS NEVER STOP. THEY HAVE ORTHOPEDIC PROBLEMS, HEART PROBLEMS. IT IS A CONSTANT STRESS. THE LOVE AND SUPPORT DOES NOT STOP EITHER. THEY GET UP EVERY DAY WITH A SMILE ON THEIR FACE EVEN THOUGH EACH DAY IS SO CHALLENGING FOR THEM. HOW COULD WE NOT GET UP WITH A SMILE ON OUR FACE.
WAX IT STARTED WHEN THE OLDEST OF THEIR THREE GIRLS STARTED HAVING TROUBLE IN SCHOOL AT SIX YEARS OLD. EVERYTHING WAS FINE PRIOR TO THAT. HER HEALTH KEPT GETTING WORSE AND IT WOULD BE ANOTHER THREE YEARS BEFORE A WERE FINALLY TOLD WHY. ONE OF THE MOST TERRIBLE DISEASES THAT EXISTS. SHE HAS SANFILIPPO SYNDROME TYPE SEE TYPE C, THE RAREST FORM OF A DISEASE THAT DESTROYS CENTRAL NERVOUS SYSTEM. RESEARCHERS ESTIMATE JUST 100 PEOPLE WORLDWIDE HAVE THIS AND THEY SOON FOUND OUT DAUGHTERS LINDSAY AND KELSEY DID TOO. THE MATERIAL ACCUMULATES IN.
THE BODY, IN THE BRAIN, UNFORTUNATELY. IT ALSO CAUSES SOME OTHER ABNORMALITIES SUCH AS WARS AND FACIAL FEATURES. COARSENED FACIAL FEATURES. AT THAT TIME, THEY TOLD US THE AVERAGE LIFE EXPECTANCY WAS 14. YOU ARE SO SHOCKED AND YOUR HEART IS RIPPED OUT OF YOU. YOU CANNOT GIVE INTO IT OR WALLOW IN IT BECAUSE YOU HAVE A FAMILY TO TAKE CARE OF. OVER THE YEARS, THEY HAVE HAD TO WATCH THE CHILDREN THEY ONCE KNEW SLIP AWAY. THEY PLAYED BASKETBALL, SOCCER. THEY RODE HORSES. THEY DID EVERYTHING. WE GOT TO KNOW THEM.
WE GOT TO KNOW THE PEOPLE THAT WE THOUGHT THEY WERE GOING TO BE. JILLIAN, THEY'RE HAPPY SUNSHINE. LINDSAY, SUITE AND CURIOUS. KELSEY, THE SPITFIRE OF THE FAMILY. FAST FORWARD TO TODAY. ALL THREE HAVE COGNITIVE IMPAIRMENTS, TROUBLE COMMUNICATING, AND BALANCE ISSUES. LINDSAY HAS A FEEDING TUBE. DESPITE IT ALL, THEY'RE SWEET SPIRIT AND STRENGTH STILL SHINE THROUGH. ALL THREE GIRLS, NOW IN THEIR 20'S, ARE BEATING THE ODDS. WE STILL BELIEVE THAT SOMETHING CAN BE DONE, THAT THEY CAN HAVE A FUTURE AND THAT IT CAN BE REVERSED. A CURE.
Nathan Stitziel, MD, PhD, Cardiologist, Cardiovascular Genetics Specialist
As a Washington University undergrad, this class physics of the heart really exposed me to the idea that there's quite a bit of physics, quite a bit of math, quite a bit of science in medicine and it exposed me to the idea that you could study science and help people along the way. And I am the Director of the Center for Cardiovascular Genetics at the Heart Vascular Center. Cardiovascular disease encompasses a broad variety of diseases including diseases of the heart muscle, diseases of the heart's electrical system and diseases.
Of the heart's vasculature and we've understood for quite some time that heritable factors underlie the risk of developing almost all of these diseases and cardiovascular genetics is a field in which we try and understand those specific inherited factors that underlie that risk and then we try to translate those findings in an attempt to make personalized care and personalized diagnoses. A typical example is someone comes to clinic and they say, Well I have HCM or another form of inherited cardiovascular disease, and we try and perform a comprehensive evaluation of what exactly is running in the family to get an idea of.
What the genetic pathways are in the genetic disease that runs in the family. Often times we are able to offer specific precise DNA testing to understand specific inherited factors that might underlie the risk of disease in family and if we're able to identify those specific factors then we can offer, at risk individuals, a test to see whether or not they've inherited that same factor of its presence in the family causing disease. And then for at risk family members we know that if individuals have inherited those changes,.
We know that we need to be particularly vigilant about screening them for the development of disease. I really enjoy interacting with patientson a very personal level and being able to help them understand what it means to have an inherited disease and what it means for both them and their family members and trying to be able to relate that information on a way that's understandable. I think that we're really leading the forefront in terms of cardiovascular care and cardiovascular research in a variety of fields. I'd like to think that we're leading.
Pediatric Sickle Cell Disease Care at Nemours Center for Cancer and Blood Disorders
Jeff Burrage, Erike's Father My son is a ball of energy. You would never know he has sickle cell. Unless he gets tired and he's laying around, then I know something's wrong. Other than that, he's just a happy little kid who smiles all day, plays all day. His mother had full blown sickle cell. She passed away at 35. And that was hard. She got tired of fighting. If you don't do what you have to do to maintain your body and take your meds, you can lose your life behind it.
Dr. Kolb Our Sickle Cell Program was designated by the National Institutes of Health as a Center of Biomedical Research Excellence. So this means clinicians and researchers working together to improve the treatment options and to improve the quality of life for patients with sickle cell. Jeff The team that takes care of my son, they fill me in on everything, give me a lot of literature. Barb Plummer, RN As a nurse at Nemours I feel empowered to educate families. To make sure they know what they need to know when they get home so they're not stressed and.
Nervous. It improves the quality of life for the whole family. Jeff It makes me comfortable. I know that they know what they're doing. They know their job. He's the smartest little kid in his class. He takes his own blood from time to time. I think he's going to be a doctor. Dr. Naga At NCH, we are the only center that offers in Central Florida a comprehensive Sickle Cell Clinical Program. The pediatric hematologists team up with other experts in the field and provide patient education and patient consultation. It is a timesaver for.
The families because they can get multiple consultations and tests accomplished in one day. At the same time they have the consult of many different experts in the field. Dr. Kolb One of great the ways that we work here at Nemours Center for Cancer and Blood Disorders is to merge an investigator with a clinician. Dr. Napper I think one of the things that's important is that we've maintained a focus just on pediatric disease. That's really quite unusual. There's really only a very small number of labs nationwide or even worldwide that have that focus, the high throughput.
Screening technology that we have on pediatric disease. Dr. Sandler Our Bone Marrow Transplant Program which is also we refer to it as Hematopoietic Stem Cell Transplant Program and that program was the first program of its sort to be accredited by the Foundation for Accreditation of Hematopoietic Stem Cell Transplant Programs, or FACT. Jeff I just wish they do find a cure so they can get rid of this disease so all these kids don't have to go through the pain and the hurt no more. Dr. Kolb Specifically we've been focusing on new genebased therapies to treat and ultimately.
Hopefully cure sickle cell disease. And also we're developing programs to help intervene in some of the psychosocial challenges associated with living with a chronic illness like sickle cell disease. Dr. Schwartz Whether it's a chronic medical problem like sickle cell disease or hemophilia, all those patients go through challenges. And I think what we do well here is that we care about our patients and we really go above and beyond I think to answer questions to get them through it. Because we're not just treating a medical problem, we're getting.
We Can Use Selfies To Identify Genetic Disorders!
Okay, now I just email that to Dr. Woo. and. Boom! Done! I wonder if they'll find any genetic disorders. Hey gang, Trace here for DNews with the latest research on human photography. Looking for scientific data in photos has exploded. Analyzing medical images is big business. Back in 2012 researchers at MIT's Computer Science and Artificial Intelligence Laba were able to use images of the brain and computer analysis to track how disorders like schizophrenia originate and spread through our grey matter. The network of cells and connections INSIDE the brain is slowly being decoded and analyzed. But to get this procedure you have to go get.
Your brain scanned a few times. Not something you can do with that telephone in your pocket. Humans take a lot of pictures, especially with the introduction of digital photography according to 1000 Memories, humankind has taken 3.5 trillion photos since 1826, but MOST of those have been digital. We take more photos every minute than were taken in the whole 19th centuryb, and 3 to 5 percent of all photos taken are selfiesc. A neuroscientist from the University College London believes we love taking selfies because we can't see.
Our own face! We're learning to move it the way we want, and show the best version of ourselves. Scientists at Oxford created a computer which can explore the millions of images we create and look for people with Down's syndrome, fragile X syndrome, and progeria. These rare genetic disorders might be overlooked by a human doctor, but not Doogie. It doesn't have a name, but I think it should be called Doogie. This guy uses facial recognition software to identify 36 feature points of interest across the face called the facial gestalt.
The team identified the parts of the face and then diagnosed a disorder. It got it right 93percent of the time. As of this month Doogie knows 90 diseases and the more faces it learns, the better it gets at diagnosing. There are 7000 different inherited disorders, and most go undiagnosed. But, if this system could send an email to your doctor narrowing down the expensive and timeconsuming trial and error process of diagnosing some of these rare disorders. Hooking something like this into a system with a lot of photos could be a gamechanger for people with these hidden.
Disorders! The Library of Congress largest library on the planet has about 13.7 million photos, that's pretty good. But Facebook has 10,000 times more their library is 140 billion photos and growing FAST. As the internet spreads to more and more people and selfies run amok, the data humanity is creating could potentially give a snapshot of what is happening economically, socially, politically, healthily ,and maybe other allys too! These are potential mines of scientific data. The selfie future's so bright, I gotta wear shades. Worried about privacy Excited for the data I'm totally okay with it, but I stand here.
Every day, so my experience is a little different. Tell us down below and thanks for watching DNews! Subscribe for more, every day of the week aaand as long as you're in a subscribing mood. Come check out our new sister show, Test Tube. We cover world events, trends and actual like. news mixed with a bit of humor. Hit the subscribe now and get that show in your inbox the same way you're getting Dnews. Thanks for tuning in! Come say, Hi, on Twitter! We're atDNews, and I'm atTraceDominguez.
Preventing inherited diseases to babies , ,.
Major advances in science in recent years allow parents to know the genetic makeup of their unborn babies, which is useful for when it comes to identifying risks for potential diseases. But some worry this research will one day lead to socalled designer babies. Shin Semin reports. Parents pass on their characteristics to their children. and sometimes that includes traits they dont want them to have. like diseases. Researchers at the Oregon Health and Science University have been working to help prevent the passing of inherited diseases on to the next generation. So far, they say their test research with.
Monkeys has been successful. This will work in humans because we tested it in other primate, nonhuman primates. So this is as close as we can get. The focus of their work aims at extracting abnormal mitochondria from the DNA that is passed on from a mother to a child. Although mitochondiral diseases are rare, once inherited by a baby, its often detrimental There is no treatment for inherited mitochondrial diseases and only few live into the adulthood. Research is still ongoing but ethical concerns are being raised about whether such a medical.
New Huntingtons Disease Clinic
FIRST IDENTIFIED IN THE LATE 1800S AND MUCH MORE IS KNOWN ABOUT THE RARE DISEASE. HERE IN OMAHA A NEW CLINIC AT NEBRASKA MEDICINE IS HELPING PEOPLE WHO SUFFER FROM THE DISEASE. ERIN MURRAY HAS THE STORY YOU WILL ONLY SEE ON SIX. NATS COGNITIVE TESTS A PERSON'S STRONGEST QUALITIES ARE OFTEN LEARNED FROM THEIR PARENTS. NATS COGNITIVE TESTS SOME QUALITIES MIMICKED BECAUSE A CHILD WANT TO BE MORE LIKE THEIR PARENT. NATS BUT OTHER QUALITIES, SELFTAUGHT IN AN ATTEMPT TO BE DIFFERENT. WHAT I WANTED TO DO WAS JUST KINDA.
DO IT BETTER THAN MY DAD WAS. BECAUSE HE BASICALLY LIVED HIS LIFE WITHOUT REALLY ADMITTING HE HAD IT. GREG BUSCH LIKE HIS FATHER, AND GRANDMOTHER HAS A RARE DISEASE CALLED HUNTINGTON'S DISEASE. A DISEASE THAT MANY DON'T UNDERSTAND. YOU ARE WORRIED ABOUT WHAT PEOPLE THINK. IT'S PAINFUL THAT WAY, HAVING TO DEAL WITH THAT. HUNTINGTON'S DISEASE IS A VERY COMPLEX NEUROLOGIC DISEASE. IT AFFECTS MANY AREAS OF FUNCTION, INCLUDING MOVEMENT, THINKING, COGNITION, AND IT CAUSES PSYCHIATRIC SYMPTOMS. IT'S WHY GREG'S HANDS AND FEET SHAKE, IT'S WHY IT TAKES HIM AN.
EXTRA SECOND TO SPEAK. BUT IT'S ALSO A GENETIC DISEASE PASSED DOWN TO HIM FROM HIS FATHER. AND GREG NOW WORRIES ABOUT HIS OWN SON. RIGHT NOW HE IS THINKING ABOUT GETTING TESTED BUT HE IS NOT SURE. BUT THERE IS GOOD NEWS FOR THE FIRST TIME A NEW CLINIC TO TREAT HUNTINGTON'S DISEASE IS NOW OPEN AT NEBRASKA MEDICINE. AND THERE IS NO OTHER HUNTINGTON'S CENTER IN NEBRASKA, NONE IN THE DAKOTAS, THE CLOSEST IS IN IOWA CITY, WHICH IS FOUR HOURS AWAY. FOR GREG THOSE WORDS.
HOLD A LOT OF WEIGHT. WELL IT'S KINDA EUPHORIA ABOUT HAVING A HUNTINGTON'S DISEASE CENTER HERE. AND WHILE THERE IS NOT A CURE. THERE IS GOOD NEWS. IT IS A VERY EXCITING TIME RIGHT NOW, RESEARCH IS GETTING CLOSE. FOR GREG AND HIS WIFE JULIE THIS IS EVERYTHING. IT'S NOT AN EASY THING TO TALK ABOUT. I AM JUST SO PROUD OF HIM, HE HAS SUCH A DIFFERENT OUTLOOK THAN THIS FATHER HAD. THE PAIR NOW DETERMINED TO BRING AWARENESS TO HUNTINGTON'S DISEASE. NATS 5758 5803 SHE'S THE LOVE OF.
How to Understand Your Genetic Testing Results
So, once genetic testing is completed, there three types of results that a patient may receive. The first is a negative result and that implies that no mutation has been identified in any of the genes on which the testing was performed. If this result is found in the patient with a strong family history of cancer, there may be several reasons why the negative result exists. First, the family history may not be explained by the type of genetic testing that was done. Second, the patient may not have the mutation that is responsible for.
The family history of cancer and therefore that is good news. However, unless we actually identify whether the family history is caused by a mutation, we may not be able to clearly provide that type of information. This is why it is important that whenever possible people or individuals in the family whose past cancers are also tested in addition to individuals who are infected. The other type of genetic test result that the patient may receive is a positive genetic test result. A positive genetic test result pertains to mutations that have been identified in a specific gene andor genes. Positive genetic test results.
Are the types of results that require further followup including increased surveillance, surgical prevention, and chemoprevention. The patients who have positive genetic test results should followup ideally with an individual who is trained in cancer genetics. Finally, the last result that sometimes is obtained is what we called a variant of uncertain significance. Now, this result is in between a negative result and the positive result and it typically identifies the presence of a change or variation in the DNA sequence that cannot be clearly assigned to no risk or increased risk. Variation is very common in humans and as such, it is.
Not unheard for genetic testing to return back variants of uncertain significance. Overtime, we have learned that many of those variants of uncertain significance do get be classified as we test more and more individuals. They end up getting be classified to negative. However, it is never known which one of those variants does get classified to a negative and therefore, it is especially important for individuals who have variants of uncertain significance to see a specialist in cancer genetics perhaps it is an option to track family members for the presence of that variant or additional studies may be available to.
Human Genetic Diseases To Know
Human Genetic Diseases To Know,Tay Sachs, Downs, Huntingtons, SickleCell, Klinefelters, Colorblindness..
Genetic Inheritance, Autosomal Dominant, X-linked Recessive, Mitochondrial Disease Polygenic MtDNA..stomponstep1geneticinheritanceautosomaldominantxlinkedrecessivemitochondrialdisease Autosomal Dominant Inheritance is when one..
Heredity: Crash Course Biology #9.Hank and his brother John discuss heredity via the gross example of relative ear wax moistness. Crash Course Biology is now available on DVD!.
An Introduction To Mendelian Genetics.An introduction to Mendelian Genetics and inheritance. More free lessons at.khanacademytutorialvNR3779ef9yQ By Ross Firestone Visit us..
New GCSE BBC Bitesize - Inheritance.This tutorial simply explains how we inherit different characteristics such as eye colour. in discusses genes including dominant and recessive alleles..
5. Inherited Genetic Disorders, By Dr. Iris Schrijver.Dr. Iris Schrijver addresses the move from singlegene analysis to genomes in the era of genomic medicine and structural variations in the genome, and how..
Lukes Story A Genetic Disorders UK Jeans For Genes Day Film
Lukes Story A Genetic Disorders UK Jeans For Genes Day Film,Lukes mum has Huntingtons disease and he has a 50 chance of inheriting it from her. Will he take the test when he reaches 18 to find out if he has the faulty..
Chapter 24 - Genetics And Genetic Disease.The Human Body in Health Disease, Thibodeau. Chapter 24 Vodcast MCO 150 Medical Specialties Pathophysiology Central Maine Community College..
Autosomal Recessive Inheritance - Genetics.This tutorial describes autosomal recessive inheritance where healthy carrier parents have a 25 chance of having a child affected with a particular genetic..
Genetics Part 5: Human Genetic Disorders.If you would like to interact with this tutorial and have access to auxiliary materials follow this link curiouscraigsavagehumangeneticdisorders A..
Inherited Mitochondrial Diseases.This tutorial has been recorded by students of the Human Genetics course that belongs to the degree on Biomedicine, Universidad de Sevilla, Sevilla, Spain In..
Huntingtonís Disease: A Tragic Inheritance.Huntingtons disease HD is a rare genetic disorder that causes the breakdown of nerve cells in the brain. The disease causes a gradual loss of mental abilities..
Abraham Hicks - Genetics And Inherited Diseases.Special Subjects Series full albums in playlists For more information on Abraham, Esther Jerry Hicks visit.abrahamhicks You can also support..