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.

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.

Eric Green Reading Cancers Genetic Signature

So cancer is fundamentally a disease of the genome. I mean the reason a tumor grows is because the cells in that tumor have picked up glitches. They picked up mutations. They picked up changes in the DNA that make those cells grow out of control. It's like pressing an accelerator in a car and just keep it going. It just grows and grows and grows and grows. And the reason why is because something's broken in the genome. And so what's happened in the past ten years in particular since the end of the Human Genome Project is the.

Recognition that we can read out the genome, the sequence of the tumor's DNA and gain insights from that tumor with respect to what had been the DNA changes that have led to those cells becoming a cancer. And that is being done on a very large scale in many countries around the world and here including the United States where literally very defined cancers are being studied. Hundreds of specimens are being collected from people and those genomes of those tumors are being read out and have all that data be put on the Internet for scientists to be able to.

Collect it all and analyze it. And we are learning a tremendous amount about cancer in many very interesting and surprising ways. And among the many things that are happening is it's giving us insights about how to better classify different types of cancer and different subtypes of cancer. And I often make the point that some of the earliest implementation of genomics in the medical situation is gonna be with cancer. And it's already happening now and I think it's gonna grow considerably. Where I think standard of care for many types of cancer are gonna be get that tumor, read out it's.

DNA, sequence it's genome and based on what you've seen what's wrong with that tumor, not by looking at it under a microscope only or by looking at it in a sort of a gross fashion but actually looking inside it's blueprint, you will be able to have a much better way of deciding what types of treatments to pursue and have a much better idea about what's wrong in that kind of tumor. And some of those things will also be very helpful for leading to possibly new developments of therapies.

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.

Stem Cell Therapy Genetics and Rheumatoid Arthritis

What do genes have to do with arthritis No. not those kinds of genes. these kinds of jeans. Genetics can explain why infections can trigger rheumatoid arthritis Appearing in Science Codex was an article describing a new international study that has revealed how genetics could explain why different environmental exposures can trigger the onset of different forms of rheumatoid arthritis. A team at the Arthritis Research UK Centre for Genetics and Genomics at The University of Manchester published their findings in the American Journal of Human Genetics. A proportion of rheumatoid arthritis patients.

Test positive for autoantibodies, while 30 remain seronegative. In this study, the researchers have better defined the genetic distinction between these two disease subtypes seropositive and seronegative rheumatoid arthritis. They have now established that different genetic variants of a protein that plays a vital role in how the body's immune system fights infection are associated with the two forms of rheumatoid arthritis. This provides clues to the theory that exposure to different infectious agents, such as bacteria or viruses, trigger the different forms of rheumatoid arthritis in susceptible individuals. Dr Steve Eyre from the genetics and genomics centre in Manchester commented We recognise.

Iron Rich Foods The Essentials of Iron HealthiNation

I'm Lynn Goldstein, a Registered Dietitian. Iron is one of the most plentiful metals on Earth and it isn't just for building skyscrapers. Iron is an essential building block of our own structure We need iron for everything from transporting oxygen around the body to regulating cell growth. Normally, the body absorbs about 10 of the iron in the foods we eat. But iron is so vital, our bodies are able to recycle the iron it needs from our old red blood cells when it has to. Talk about sustainable construction!.

Without enough iron, you can develop a condition called anemia. The World Health Organization ranks iron deficiency as the 1 nutritional disorder. Nearly 80 of the world's population may not get enough iron, and as many as 30 may have fullblown iron deficiency anemia. When you're anemic, your body doesn't have the iron it needs to make hemoglobin found in our blood cells and myoglobin found in our muscles. It's the iron in these two proteins that gives both blood and muscle it's red color. Hemoglobin and myoglobin are responsible for carrying and storing oxygen in our body. When the body doesn't get the.

Oxygen it needs, it can cause a range of symptoms like pale skin, fatigue, and vulnerability to infection. Cold hands and feet, dizziness, headaches and even an irregular heartbeat can also by symptoms of anemia. Not having enough iron can be caused by a number of things blood loss including internal bleeding over time say, from an ulcer or certain tumors, or even, in some women, having heavy periods, poor nutrition, the demands of pregnancy, or an inability to absorb enough iron from foods. Meat is an especially ironrich food and the form of iron in meat is absorbed especially.

Easily by the body. It's called heme iron and it's also found in liver, seafood, and poultry. Plants contain non heme iron which is less efficiently absorbed but are still great choices. These include dark green leafy vegetables like spinach, beans and ironfortified foods like certain breakfast cereals, breads and pastas. Even some dried fruits like raisins and apricots, as well as certain nuts and seeds, can pack a hearty iron punch. Research has shown that you body absorbs iron more easily when ironrich food is eaten with foods containing lots of Vitamin C, Good choices for those include fruits like melons, strawberries,.

Kiwis and mangoes, and vegetables like broccoli, peppers, tomatoes, cabbage and even potatoes. There are also foods that can decrease iron absorption from plant sources. So listen up vegetarians! You especially need to know this. These include soybeans, legumes and whole grains, and foods containing calcium. Too much iron isn't good either. In fact, it can be deadly. Hemochromatosis or Iron Overload Disease is an inherited condition in which too much iron builds up in the body. Despite the complicated name, it's one of the most common genetic diseases in the US!.

When someone has this condition, during digestion the body absorbs a lot more iron than it needs and then has no way of getting rid of it. The extra iron is stored in body tissues, especially the heart, liver and pancreas. Over time, iron levels can become dangerously high, and those organs can be damaged or even fail completely. Taking too many iron supplements can also lead to iron poisoning. Trying to adjust iron levels yourself can be hazardous. See your doctor if you suspect you might have either too much or too little iron in your system.

Top 10 Rare Diseases And Rare Disorders You Do Not Know About

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