Maxs story a Genetic Disorders UK Jeans for Genes Day film
Hello my name is Max and this film is all about me. I am six years old and my brother Thomas is 11 years old. I have a condition called hy.po.hidrotic ecto. hypohidrotic ectodermal dysplasia. I am the only one with the condition in my family. Dad, can you explain what my condition is Well it's a genetic condition, and a genetic condition you are born with. Your body is made up of genes, and genes are the instructions that tell your body how to grow and how to work. In your case one of your genes didn't work properly so you have ectodermal dysplasia,.
And some parts of your body are different to other people's. So your hair, Max, is very fine and very sparse and doesn't grow as much as Thomas's, does it I mean Thomas has to get his hair cut all the time but you don't have to have your hair cut as often as he does. But you still gel it up and spike it up, don't you Now your teeth, you haven't got any teeth, have you That's part of your condition as well. Some of the children who have this condition, their teeth don't form properly,.
And for you, you haven't got any teeth at all. Now because you haven't got any teeth we have to watch what you eat quite closely, and so you have to eat a lot of soft foods, and some different foods to Thomas because you can't chew them or bite them. But an apple, you couldn't bite an apple, could you That still doesn't get you out of cleaning your gums! Dad, why is it that I get hot sometimes The reason you get hot is because your sweat glands haven't formed properly,.
And sweat glands help control your body temperature. So when you get hot, people normally sweat and that cool's people down. But because you can't sweat we have to cool you down in other ways, so that's why we have lots of drinks and lots of cold water to get you cool. So when you play football, because you're running around a lot we have to make sure that you're not getting too hot, so that's why when we go to watch me and mummy have the water sprays to keep you nice and cool,.
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.
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.
Aurian is Fighting Genetic Disorders with Medical Research
My full name is Aurian Priscilla Garcia Gonzalez, I'm a 4thyear MDPhD student working in the lab of Marian Walhout at the University of Massachusetts Medical School. So I grew in San Juan, PR and I went to school at the University of Puerto Rico. So it's very sunny, very warm, very beautiful and I really enjoyed growing up there. It's a very vibrant community, and as I was growing up I got exposed to a lot of research there, but moving forward in my career I realized that maybe I didn't have all the opportunities that I needed to.
Grow professionally as I wanted to. So that's why I decided to leave home and family and then come to the University of Massachusetts Medical School to pursue my MDPhD. And I felt that I wanted to be in an environment where people challenged me in a very positive way, but also, in a community that was small enough that I could know everybody and people were very collaborative. So in the Walhout Lab, we try to study the gene regulatory networks. And what that means is how proteins and DNA interact to turn on and off different genes.
And I want to understand how these interactions evolve and how genes are turned on and off because that can give us a better understanding of when it doesn't go right and what, for example, happens in disease. So by understanding the different switches that turn on and off different genes, we can have a better understanding of when it doesn'twhen these switches don't work as they should and how that process can drive human disease. Some of the challenges that we face in the lab are, for example, there are 1000s of genes inside the cell and.
Each gene can have more than one switch at a time, so it's very difficult to not only find the switches that turn on and off the different genes but also to identify which of these switches is the most meaningful for disease. So at this stage of my training, what I've experienced in this interplay between being a physician and a scientist is mostly that there are times when I have to go to the clinic and see patients in the hospital and then in the afternoons come back to the lab and do my research. And people.
Have different ways of finding that balance but it's this constant crosstalk between the medicine and the science to make sure that we make those connections appropriately to use the knowledge from the lab to drive an improved patient care. So if being a physicianscientist is what you want to do, make sure that you follow through and don't be your own obstacle. There are many kind of myths or perceptions about what this career can entail and even though I'm not fully aware of those things yet, I can say for sure that many people become.
What genes means a Genetic Disorders UK Jeans for Genes Day film
Did you know that there are two kinds of 'genes' or 'jeans' The kind of 'jeans' you wear are dead easy to explain. They're the ones that keep your legs warm and give you somewhere to put your mobile phone. But inside your body are a different kind of 'genes'. Your body is made up of lots and lots of teeny, tiny cells including your hair, your skin and your insides. Every part of your body is made up of cells. If you could somehow get hold of one of your cells and crack it open like an egg,.
Then somewhere in there you would find your genes. Genes are a bit like gingerbread men, the basic ingredients are the same for everyone, but there are tiny differences in the recipe that makes us all different from each other. A bit like having different flavoured toppings! Everyone gets their genes from their parents, which is why we all look a bit like them. Except I'm not as old and bald as my dad.phew! Other living things like plants and animals have genes too. Some of the basic ingredients in their gene recipe are similar to yours, but other ones are found only in humans.
Did you know that you share around 98 of your genes with a chimpanzee and around 50 with a banana My mum says that the thing about recipes is that you have to follow them very carefully. Otherwise they don't work properly. Genes are similar. If one of the ingredients in someone's gene recipe is missing or if they have the wrong ingredient, then it could mean they have to use a wheelchair, or only eat certain foods, or take special medicines or all kinds of things like that. But, differences in your gene recipe are not always bad news.
How Does Gene Therapy Work
Gene therapy has the potential to save millions of lives if we can just figure out how to make it work. Hey peeps, thanks for tuning in to Dnews. I'm Trace. Gene therapy sounds like a nice easy treatment right that's therapy. In some ways it is on the macro level, but in your cells it's a little bit invasive. In gene therapy, doctors are basically hacking the DNA of a living human. Using genetically engineered retroviruses called vectors, scientists infect human cells. The retrovirus can be programmed to carry a.
Gene or a little bit of DNA that will overwrite the messed up mutation and make it work properly. It was first tried on a young girl in 1990 and despite some early failures it has the potential to revolutionize treatment of genetic disorders. The Journal of Science describes one of the recent successes that gene therapists say was really exciting. A few children were born with metachromatic leukodystrophy which causes a defective immune system and some brain disorders and kids who have it usually don't live past the age of five. Bone marrow contains stem cells, the cells.
Normally produce red blood cells but they can be reprogrammed using gene therapy it's a little risky, but it can work. Taking bone marrow from these kids doctors were able to infect the cells with a retrovirus and replace the stem cells mutated gene with the repaired gene. Then they reinjected that back into the patient and the fixed cells multiplied and as of the time we filmed this, the patients are all in good condition, and are heading to kindergarten at that time that others with that disease can't even speak.
There maybe future side effects but they seem pretty happy with the result at the moment I mean I would be. Science just helped some kids! Whoo! It's not just useful in children. Scientists have also used gene therapy on dogs to cure them of Type 1 Diabetes with two of their doggie patients still alive years later. The treatment involved injecting two things into dogs' muscles. One gene to send glucose and an enzyme to dictate glucose absorption. Scientists don't have to target our DNA, they can also use gene therapy to target the DNA of cancer cells.
It's like they gave cancer cancer. You've seen this before if you've been following Dnews. A protein called CD47 is like a passport that tells your immune system not to attack a cell. Normally cancer produces a ton of CD47. Using gene therapy on the cancer, scientist turned off that cell production and let the immune system blow it out of the sky like a decloaked Klingon bird of prey Gene therapy is still in its infancy but the promise of future cures for everything from cancer to genetic disorders is pretty incredible.
Teenager Suffering From Rare Harlequin Syndrome
0001 Hunter People need to understand that it's ok to be different. It's ok to not fit the norm because there is no norm. 0009 COMM When people first meet teenager Hunter Steinitz, many believe she's been a victim of horrific burns. In fact, Hunter was born with ultrarare genetic condition, Harlequin Ichthyosis, meaning her skin is too thick and leaves Hunter with scaly dry patches all over her body. 0025 COMM Her arrival in the world was a shock for mum Patty and dad Mark. 0030 Mark You can tell in all of those individuals,.
Those medical people in the room, their faces, right then, I knew something was clearly wrong. 0041 COMM In the past, sufferers often died early because they miss vital defence barriers in their skin. Today, raised awareness and new medical techniques are helping people like Hunter live long lives. 0054 COMM The condition poses many challenges for sufferers, who have to grow up in a world where people point, stare and react badly to them. 0103 Hunter Gym was the worst because gym, you know, you're forced to be in physical content with one another. People would flip out and.
A lot of the time the teachers wouldn't do anything because they don't know how to react. 0116 COMM After years of harsh bullying, Hunter started to question things. 0120 Hunter Maybe I deserved it. Maybe, you know, I was this freak and I was this different entity. I didn't deserve to be around normal people. 0131 COMM But not everyone was mean. Some pals, like Samantha Beers stuck by her, no matter what. 0136 Samantha I've been friends with her since we were 3 because she was there for me when I needed her.
0140 COMM With support from her true friends and loved ones like dad, Mark, Hunter turned a corner and began to change the way she saw herself. 0148 Hunter I'd be a totally different person without it. My family would be different people, I wouldn't have the same friends and so I owe everything about my life to, you know, the disorder. 0201 Mark She recognises that she can do whatever she chooses to do, and that there isn't anybody out there, regardless of the kind of confrontation they provide her because of what she looks like, that can prevent her from doing it.
0216 COMM With a new lease of life, Hunter is now helping to educate others with motivational speaking. 0222 Hunter People need to understand that it's ok to be different. It's ok to not fit the norm because there is no norm. 0231 COMM With a fresh outlook, Hunter is now preparing for life at university and she's ready for anything. 0236 Hunter For every 2 idiot who can't get it into their thick skulls, there's another 3 who are gonna open up to some level, who are gonna be able to see past it and be able to see me. I'm not normal and proud of it.
Gene editing with CRISPRCas9
I think the thing that's amazing about science and about biology for me is that there's always more to be discovered, and every time we feel like we've figured something out, it seems to open up several more questions. gentle percussive music Scientists have appreciated for a long time that once we understood the DNA sequence in cells, if we had a tool that would allow easy manipulation of that sequence, that that would be a very powerful kind of technology. gentle percussive music CRISPR is a technology for changing the sequence.
Of DNA in cells in a precise fashion to correct mutations that might otherwise cause disease. It's going to enable a lot of science to be done that was impossible to do in the past. So the way the CRISPR technology works is by the action of a protein called Cas9 that functions like a molecular scalpel for DNA. The CRISPR Cas9 system has an amazing ability to recognize a particular DNA sequence in a cell that may be malfunctioning, and then disable it by cutting the DNA. We call this gene editing, and we can use it.
To disable or repair a mutated part of the gene, which may be causing disease. For Cas9 to find the malfunctioning DNA, we attach it to an RNA sequence that matches the DNA sequence we want to edit. Then we put this RNA Cas9 combination into the cell. It finds the mutant DNA and uses the chemical reaction to cut the DNA strand right at the spot where it's malfunctioning. After that, we can sometimes insert the correct version of the gene for the cell to work properly again. It's a very exciting technology that's going to do.
Five mental disorders share some of the same genes
CUTHBERT This study examined five different psychiatric disorders that we've always thought of as distinct disorders. Autism spectrum disorders, attention deficit hyperactivity disorder, schizophrenia, bipolar disorder and unipolar depression. It examined the genetics in all of these disorders in one BIG sample, as though they were simply a single illness. And they found genes that were in common across all of these disorders. In particular, they found disruptions in calcium channels that are very important parts of neurotransmission. Now that doesn't match with the idea that these are distinct. Rather it shows us that.
There are these common mechanisms. Now, these may not be involved with absolutely everybody who has these disorders, but clearly they are present in all of these different groups. What that suggests is that we can start to move beyond the way we currently think about disorders. Now we diagnose our disorders purely by description, we describe the symptoms, and assign a diagnosis on that basis. Now we can start to actually think about diagnosing the disorder by its underlying biology. That one person has this calcium channel problem. Another person has something else wrong.
AHS BIO BREAKDOWN Genetic disorders
AHS Bio Breakdown Featuring Achintya, Helen, and me as Sam Disorders covered today will be Alexander's Disease, Cri Du Chat, and Progeria First off is Alexander's Disease It is a rare disorder of the nervous system It is also a disease involving the white matter of the brain Basically, it involves the deterioration of myelin Myelin is a type of fatty tissue that insulates nerve fibers and promotes transmission of nerve impulses Due to destruction of the myelin tissue, the nervous system becomes impaired. Mutations in the GFAP gene cause this deterioration.
The GFAP gene is an important gene for an important protein in the nervous system. This disease usually ends up with severe intellectual disablilty developmental delay, and a buildup of fluid in the brain and seizures! More symptoms are speech difficulties, swallowing difficulties, and poor coordination. People with this disease usually live for 510 years. Now, onto the next genetic disease, Cri Du Chat! Hello everyone! Cri Du Chat means the Cry of the Cat when translated from French. It is caused by a deletion on short arm chromosome 5 which varies their lengths.
As you can see, the deleted region. During the egg and sperm formation, A part of this chromosome breaks off causing this disorder If the parent has it, it is possible for the child to get the disorder. Parents unaffected by the disorder have balanced translocation on the rearranged chromosome that neither gains nor loses genetic information. However, the next generation suffers due to the inbalance in translocation when the chromosome is rearranged, causing deletions. which causes this disorder. As you can see here where the gene C is getting deleted.
Some symptoms of Cri Du Chat include a small head, a catlike call, because the larynx does not develop correctly weak motor skills, and intellectual disabilities. It gets harder to treat when the affected person has grown up. There is no cure but patients go through therapy to better their motor skills Cri Du Chat is only found in 1 in 2050 thousand newborns regardless of their ethnic backgrounds. Now to Helen with Progeria! The third disease we will be covering today is Progeria. Progeria is a genetic disorder caused by a.
Point mutation on the LMNA gene. The gene produces a LMNA protein called progerin which holds the nucleus of a cell together. Due to the mutation, the LMNA protein becomes misshapen and irregular, causing an unstable nucleus. Progeria is commonly known as rapid aging, in which a child ages faster than normal as you can see in these two pictures here. Children with progeria commonly survive about 1015 years. Symptoms of this disorder include slowed growth, a disproportionately large head, thin and wrinkly skin, a high voice, hair loss, a narrowed face,.
Dominant And Recessive Genetic Disorders
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