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.

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.

Why Are Some People Albino

Albinism is a rare genetic condition where a person's body isn't able to make skin color. But what exactly is albinism and how common is it Hey Guys, Julia here for DNews Albinism is a genetic condition, where a person's body isn't able to make pigments, so people with this condition have white skin and hair, with light blue or pink eyes. Albinism is a complex disorder. You get your skin, eye and hair color from melanin, which is distributed through a number of genes but if one of these genes carry a certain mutation.

The amount of melanin that is distributed throughout your body changes. Or sometimes this mutation will keep your body from producing any melanin at all. Melanin is produced by cells called melanocytes which are mostly found in your skin and eyes but also in your hair. People with darker skin have a higher concentration of melanin in their skin as opposed to fair skinned people. Albinism is the absence of melanin completely. And it's not just people, any animal with pigment can be albino. Albinism is passed down genetically. In most cases, there is someone in the family tree.

Who also has the condition. But not all cases are the same. There are actually many types of albinism that all affect a different gene mutation. Oculocutaneous albinism, which is when it affects your eyes, skin and hair, ranges from type 1 to type 4 with varying degrees of melanin impact and affects 1 in every 20,000 people. The most severe version of albinism is oculocutaneous albinism type 1 or OCA 1. OCA 1 is caused by a mutation in 1 of 4 genes. It's characterized by having pink or white.

Skin, eyes and hair. Some babies born with OCA type 1 do develop slight pigmentation during their early childhood but many born with this type of albinism never do. OCA type 2 is less severe than type 1, skin and eye color will be pale but hair color is more likely to be red, yellow or auburn. OCA type 3 mostly affects people who are darker skinned and will create a reddish light tan tone along with auburn eyes. OCA type 4 is very related to type 2, it's hard to diagnose.

Which type of albinism is at work and is best left to genetic testing. Another type of albinism is ocular albinism type 1 OA1, also called NettleshipFalls syndrome. Much like its name suggests only the eyes are affected by the genetic mutation, while hair and skin will remain the same. This happens only when the genetic mutation of an x chromosome is inherited so it occurs mostly in males. The eyes will appear blueish pink, the iris is super translucent and the most important part of the eye the fovea,.

Which is responsible for a sharp image does not develop properly. However any degree of albinism comes with vision problems which include being cross eyed, being sensitive to light, rapid eye movement and functional blindness. An estimated 1 in 20,000 people worldwide are born with it and affects about 20,000 people in the U.S. every year. OCA type 2 happens more frequently in African Americans, Native Americans and in SubSaharan Africa. Nigeria has one of the highest prevalence of Albinism in the world with over two million people affected. There are many myths that surround albinism and why it happens. While it is true that.

People with albinism can't tan and many can get very serious sunburns, the chances of getting skin cancer is just as high with anyone else who spends a lot of time in the sun. Other myths include the belief that albinos posses magic traits or bring bad luck. Some tribal communities in Africa persecute them, forcing them to leave their native communities or be killed. Places like Tanzania are having an especially hard time controlling this myth, where sacrifices and the belief that albino body parts bring good luck causes a spike.

Marta ByrskaBishop Ross Hardison

Gtgt I am Ross Hardison. I'm a Professor in Biochemistry and Molecular Biology here at Penn State. I do research in genomics and in gene regulation. One of the best systems to study cell differentiation is hematopoiesis. Hematopoiesis is the generation of the blood cells. It doesn't always go according, I was going to say according to plan, according to the way it's supposed to work and has evolved. One of the major ways that things go wrong is when that massive production isn't fully regulated so you start making too many of one type of cells and when you're making too many that means.

That one of those decision points something went wrong. Can we figure out what proteins are doing the wrong thing gtgt My name is Marta ByrskaBishop and I'm a 5th year PhD student at Ross Hardison's lab here at Penn State. So my research is focused on trying to understand the mechanism by which certain group of blood disorder arises in humans, especially in children with Down syndrome. For example, about 10 percent of children with Down syndrome are born with a so called Transient Myeloproliferative Disorder, TMD in short, which is basically like a preleukemic disorder.

Down syndrome patients suffering from those diseases all carry a mutation in a gene that encodes for a transcription factor called GATA1. So what we are trying to understand is what is the functional implication of these mutations in GATA1 and in particular what is the mechanism by which these mutations cause that the diseases. Our collaborators at Children's Hospital of Philadelphia, they are responsible for doing all of these amazing experiments, taking you know samples from patients, inducing inaudible stem cells from them and then they do the experiment but then they are left.

With all of this data which has to be analyzed and that's where we come in and we bring our expertise in dealing with you know computational approach, writing codes and trying to understand what this data is telling us. gtgt We need to understand basic mechanisms and biological processes but that fundamental understanding plays out into practical applications and the best ones are the ones that you didn't necessarily plan on. You don't avoid frustration you're going to hit it. But you can overcome it or ignore it because you're so excited.

Gtgt So when I came in I actually was purely an experimental biologist but when I joined with Hardison Lab that's when I actually got exposed to all of these computational approaches inaudible you know by allowing you to discover what you want to do for yourself, whether you are more interested in experiments or computational approaches, it really was empowering to kind of be able to do both. And I was always fascinated by how is it that you know a single mutational gene can actually cause such profound changes, really just amazing to me that I could go from, you know,.

Gene variant identified as a heart disease risk factor for women

This is all about why it is that women have heart disease we used to think that women live longer than men, heart disease wasn't a problem. We know that's not true. Women, especially after menopause, are very likely to have heart disease, more likely to die of heart disease, and less likely to have good care, or optimal care related to their heart disease. The importance of our work is I think we're starting to open the door on the genetics of heart disease in women and it's all about.

This receptor, GPER. Where our work has been important to identify that activation of this receptor was known to be associated with lowering blood pressure. What we found is that common variation in the gene for this receptor when expressed in women translates into both higher blood pressure and that women presenting to a high blood pressure clinic are more likely to be carrying this gene. So we think it's a risk factor for the development of high blood pressure which is the major risk factor in the development of heart disease.

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.

UC Davis Finds Gene Mutation for Heart Disease in Newfoundlands

So, subaortic stenosis is a congenital heart disease that we see really commonly in Newfoundlands. It's the most common heart disease that dogs are born with and of the breed that we see, Newfoundlands are really overrepresented for this disease. It is characterized by an abnormal ridge of tissue just below the aortic valve that causes severe heart disease in dogs, specifically Newfoundland dogs. So moderate or severe, affected dogs with subaortic stenosis can have episodes of fainting or collapse associated with ventricular arrhythmias, or cardiac arrhythmias. They can also go into congestive heart failure where they.

Have difficulty breathing and some dogs will display exercise intolerance with play activity and other dogs, won't show any signs and unfortunately their first sign of disease is sudden death. Diagnosis of aortic stenosis is first suspected based on the presence of a heart murmur at the level of the aorta. Confirmation of this disease relies upon ultrasound of the heart to measure the speed with which blood moves out of the aorta. This disease is not very common in human beings either, and so we didn't have a really good starting place of genes to screen.

There were a few that were proposed to interact in that area of the heart, but screening of those genes didn't identify any mutations. So we really had to take a whole genome or look at every chromosome in the dog genome type of approach to find the cause of the mutation for this disease. Genetic screening test is now available for this mutation that's associated with the disease. And so, breeders can screen their pets for this mutation presence. And know that breeding these dogs that have the mutation, is a certain risk for development of disease.

Diseaseresistance Gene Identified in Peppers

Researches are the UC Davis Seed and Biotechnology Center have identified a candidate gene that encodes a enzyme in peppers meant to trigger resistance to a common pathogen. The pathogen Phytophthora capsici spreads the root rot disease that can severely affect crop yields in the pepper industry. Doctoral candidate Zeb Rehrig, under the direction of Allen Van Deynze, used 400 lines from four populations of peppers for the study. The effects of the pathogen on a flat of peppers is shown in this tutorial over a period of six days. This particular isolate was collected from the Northeastern part of the U.S.

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Sisters Battle Rare, Fatal Genetic Disease Found In 100 People Worldwide

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