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.

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,.

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.

Whats the Genetic Link Between Mental Disorders

Image source Healthy PlaceBY JASMINE BAILEYIn what is being called the largestever genetic study of psychiatric illness researchers have found a genetic link between five different mental disorders. Those disorders includeAutismAttention DeficitHyperactivity Disorder or ADHDBipolar DisorderMajor Depressive DisorderAnd Schizophrenia each includes both childhood and adult onset. The findings, published in The Lancet journal, say researchers analyzed disorders in more than 30 thousand cases and some 27 thousand controls. According to the study they pinpointed a direct relationship between calciumchannel activity genes and mental illness. According to Wisegeek a calcium channel activity is a structure in the body which.

Allows cells to transmit electrical charges to each other.The New York Times points out an odd discovery about six years ago sparked this recent research. It came while investigating the genes of a few families in which mental illness seem common.They found a few unusual disruptions of chromosomes that were linked to psychiatric illnesses. But what surprised them was that while one person with the aberration might get one disorder, a relative with the same mutation got a different one.But researchers claim the recent discovery does more than explain previous findings.These recent results provide.

Evidence relevant to the goal of moving beyond descriptive syndromesand towards a classification informed by disease cause.And ABC reports the study's authors note another benefit. Genetics can contribute to prediction and prevention of psychiatric diseases, along with the identification of molecular targets for new generations of psychotropic drugs. However, according to Dr. Randy Ross of the University of Colorado School of Medicine even with the new findings, there is still a long road ahead to fully accomplish the projected benefits of the discovery.We at this point don't know the basic biological basis of most psychiatric illnesses. And this is really.

Inspired to Cure Finding new treatments for ALS

Music gtgt Donald I was pretty much bummed out for a little while. gtgt In July, 2012, Donald Risser, a Reamstown, Pennsylvania man, retired from the machining industry, learned he had ALS, also known as Lou Gehrig's disease. gtgt Donald But thanks to a strong family and both personal family and the church and I guess a good strong attitude, why, I'm okay. I'm ready to go. I'm living life and doing what I can do the best way I can do it. gtgt For the past 20 years, Penn State Hershey's ALS Clinic has offered people with ALS the.

Best available treatment and management of their disease, but ALS has no cure. Research into the disease is complicated by the fact that no two people with ALS present in exactly the same way. gtgt Simmons I think a good way to think about ALS is not as a single disease, but probably as a presentation, which can vary because there are likely a number of different underlying causes. gtgt Simmons and scientists from the Institute for Personalized Medicine are working together to find out what the genetics of people with ALS can tell them about the disease.

Gtgt Simmons If we can see a patient, figure out why they've developed ALS, and offer a treatment that's designed with that particular cause in mind, I think our treatments could potentially be much more effective. gtgt Here we have all the components necessary for personalized medicine starting with the patient cohort through to the place to collect samples and to store them and track them, the instrumentation to generate lots of information, the computer power and expertise to analyze it, and then the scientists who can try to take that information and turn them into therapies.

New Hope for Rare Genetic Disorder

I'm Gabe Garza with today's health news. A new treatment looks promising for children with this rare genetic disorder. A small study from Cincinnati Children's Hospital Medical Center found that children with LRBA deficiency who took the rheumatoid arthritis medication Orencia showed improvement after treatment. LRBA deficiency is a genetic immune system disorder that can cause infections, diabetes, lung disease and healthy tissue damage. The genetic mutations that cause LRBA deficiency were just discovered in 2012. 7 out of 9 children in this study showed signs of improvement with lung function and fewer autoimmunity.

Curing disease by repairing faulty Genes. MIT boosts efficiency of CRISPR genomeediting system.

The genomeediting technique known as CRISPR allows scientists to clip a specific DNA sequence and replace it with a new one, offering the potential to cure diseases caused by defective genes. For this potential to be realized, however, scientists must find a way to safely deliver the CRISPR machinery and a corrected copy of the DNA into the diseased cells. MIT researchers have now developed a way to deliver the CRISPR genome repair components more efficiently than previously possible, and they also believe it may be safer for human use. In a study of mice, they found that they could correct the mutated gene that.

Breast Cancer Awareness Stanford Doctor Explains Breast Cancer Genetics

Breast cancer is a common disease in the United States and Europe. One in eight American women will have breast cancer during the course of her lifetime. And, for most of these women, we actually don't know what causes it. But, over the last two decades, we have begun to chip away at the unknowns in terms of causes. And, the major genes to be discovered about 20 years ago, were called BRCA1 and BRCA 2, which, when they were mutated, were strongly associated with a high risk of breast cancer.

And these were genes that were discovered in families that just had too much breast cancer. Instead of a one in eight kind of probability, it might be every woman in the family would get breast cancer young, or would get ovarian cancer. Very important to note that BRCA1 and BRCA2 are normal genes that everybody has. Their role when they are functioning normally is to repair damage in our DNA. Some people have described them as some molecular spell checker. And you can imagine, if they're not working, your DNA might acquire a lot of mistakes.

One of the things that we know is that BRCA1 and BRCA 2 are not the whole story. There are still families with way more than their share of breast cancer, where it's not one in eight women in the family, but maybe one in two women who are getting breast cancer. And yet, when we test their BRCA1 and BRCA 2 genes, they're perfectly normal. So, BRCA1 and 2 are not the whole story. So, many mysteries still, even though we've sequenced the human genome. But, with that sequencing, has come some exciting new technology that allows us to interrogate people's genes.

More cheaply in larger volumes. And so, just over the last two or three years, we've begun discovering and repeatedly testing more genes than just BRCA1 and BRCA2 which are associated with breast cancer risk. So, if we test a woman, let's say she has a BRCA1 mutation, the famous example of someone who does would be Angelina Jolie and she's been quite open about that, there really are two categories of ways to manage cancer risk in a woman with a BRCA, or other high risk mutation. One would be through strategies of cancer prevention,.

And the other would be screening or early detection. Knowing your family history is absolutely essential. Not just your mother's family history, but your father's family history. Something that a lot of people don't know is that these gene mutations, can be inherited equally from the male side as the female side. I certainly hope that we will make rapid progress with understanding the human genome. I believe that we are. I think, even in the last eighteen months in my field of cancer genetics, we've seen dramatic advances of expanding the genes for which we test beyond just BRCA1 and BRCA2,.

Chapter 24 Genetics And Genetic Disease

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