Category Archives: Rare diseases

Infertility hope: Uterus transplant results in a healthy baby boy

pixabay baby holding dad's fingerInfertility is a heartbreaking problem that many women and couples face. There’s nothing worse than wanting a baby and being told that it will never happen, or being given the “one in a million” speech. And while there have been many advances in medicine that have helped women overcome the diagnosis of “infertility,” recent news of womb transplant success gives us a new reason to be optimistic!

For women who were born without a uterus (this affects about 1 in 5000 women worldwide) or have lost theirs to cancer, becoming pregnant doesn’t even seem like an option. But in September, all that changed when baby Vincent was born. Vincent’s mother was one of nine patients who had undergone a uterine transplant over the last two years in this particular study. Out of those nine patients, Vincent’s mom was the first to deliver her baby, and six others are currently pregnant.

While several countries may now start their own womb transplant programs, this is unlikely to become a commonplace technique, as it is expensive and risky. Patients must remain on anti-rejection medication to prevent their bodies from rejecting the transplanted uterus. After birth, the uterus would need be removed to prevent long-term health effects from anti-rejection drugs. But it’s still an incredible advance, and women who had no hope of becoming pregnant may now have a chance.

None of this would have been possible without dedicated researchers worldwide and the animal models that have contributed to the understanding and application of this science. Surgical techniques and anti-rejection drugs have progressed to the point of actually allowing a woman without a uterus to undergo a successful transplant and give birth to healthy baby- and that’s amazing! Read more about it here.

Mesothelioma: Are YOU at risk?

Bad newsMesothelioma is an aggressive cancer that affects the lining of the lungs and abdomen (the mesothelium). The mesothelium is important because the lungs, heart and stomach are constantly in motion, and the cells in the mesothelium provide lubrication and assist in organ function. There is no cure, and the relative 5-year survival rate is between 5% and 10%. But how does one develop mesothelioma- and are YOU at risk?

Mesothelioma is mainly caused by asbestos exposure. Asbestos occurs naturally in the environment as bundles of fibers. Small, individual fibers are too small to be seen with the naked eye, and if they’re breathed in, a buildup of fibers can cause plenty of lung problems- including mesothelioma.

Because of its durability and resistance to heat and chemicals, asbestos was commonly used in many different industries for years. However, in the later 1900s, asbestos-related cancers became better understood. Laboratory studies with rodents have confirmed the link between asbestos exposure and cancer.

Since the mid 1970s, its use has been significantly decreased, but asbestos exposure is still a concern when working with older building materials. The World Trade Center, for example, was built at a time when asbestos was very common in building materials. It’s estimated that 400 tons of asbestos were used in its construction, and when the buildings collapsed, the EPA reports that asbestos was “pulverized” into fine particles and scattered over Lower Manhattan. In 2006, researchers estimated that almost 70% of recovery personnel had suffered from lung problems, and it’s expected that in the years to come, more first responders and workers that assisted in the cleanup will be diagnosed with mesothelioma.

Awareness is key. The use of asbestos is regulated by OSHA and the EPA, and anyone who believes they may come in contact with asbestos in their workplace can contact OSHA for more information on regulations and safe practices. In the meanwhile, researchers continue to look for answers. Animal research has helped lead to two approved chemotherapy medications for mesothelioma, and researchers are continuing to work on gene therapies, new ways to target cancer cells, and more efficient methods to deliver radiation.

To find out more about this disease, visit the pages listed below and follow the links in this article. To spread awareness, you can start by sharing this article on social media. We’d love to hear your thoughts- has this disease touched you or your family? What do YOU want people to know about mesothelioma? Leave your comments below.

http://www.mesothelioma.com/

http://www.cancer.org/cancer/malignantmesothelioma/index

Drug could protect against deadly doses of radiation

iStock_000021920206SmallUnfortunately, the nuclear disasters in Chernobyl and Fukushima have shown us just how catastrophic radiation can be. But what if there was a way to intervene in the 24 hours after radiation exposure, limiting damage to the human body? Researchers are optimistic that they’ve discovered a promising treatment.

Normally, radiation exposure affects the integrity of the intestines, which can lead to radiation-induced gastrointestinal syndrome (RIGS). There is no cure for RIGS, but now, there might be a way to prevent it. But by administering a compound (DMOG) that blocks certain proteins, researchers found that in mice, tissues were modified in a way that allowed them to repair and regenerate.

A potential treatment for those exposed to radiation is really good news. The survival rate in mice was greatly increased after this therapy, and there’s a possibility that this could also have an impact on patients receiving radiation during cancer treatments. While it’s too early to tell whether or not cancer patients could benefit from this drug, the good news is that it’s already in clinical trials to treat a blood disorder, so safety assessments are already in the works. Read more about the research here:

http://news.sciencemag.org/health/2014/05/drug-could-protect-against-radiation-exposure

Osteoporosis and the goo that might prevent it

woman radiography scanNew research helps explain the extraordinary strength of human bones, and the answers are in the form of goo! It turns out that your bones are made up of a mix of tiny crystal-like fragments and molecules of citrate. A citrate molecule bonds to calcium, creates a sticky fluid when mixed with water, and acts as a kind of shock absorber for the bone crystals.

And your bones depend on that gooey shock absorber every day! Regardless of your body weight, your bones certainly take on quite a strain every time you jump, twist, run, or even walk. Without citrate, the layers of calcium phosphate in your bones fuse into clumps, and the bone becomes brittle and more likely to shatter.

This new understanding of the role of citrate ‘goo’ as it relates to bone strength will hopefully help researchers understand some of the mechanisms of osteoporosis and brittle bone disease. Past studies in bone structure and strength and new research in treating brittle bone disease in children have relied on animal studies and clinical trials, and hopefully researchers can utilize all resources at their disposal to make the most of this new discovery!

http://www.laboratoryequipment.com/news/2014/03/researchers-find-shock-absorbing-goo-bone?et_cid=3843244&et_rid=655142386&location=top

http://www.dailymail.co.uk/health/article-510798/Stem-cells-treat-brittle-bone-disease-children.html

Nanovaccines: Little particles with big possibilities

syringeMost vaccines are injectable or inhaled solutions- needing refrigeration- that contain killed viruses or fragments of viruses that the body’s immune system will recognize. But researchers are working on creating nanovaccines, which also contain killed viruses, but in really small synthetic particles (think 1/1,000,000th of a millimeter) instead of suspended in solution like traditional vaccines. These particles are designed to be thermally stable, so they can be stored at room temperature for 6-10 months and still be effective. The goal is to maximize these vaccines so they can be delivered via nasal spray in only one dose, eliminating follow-up boosters! Nanovaccines have been effective in rodents, and studies in larger animals are already underway.

This could make a huge difference to EVERYONE receiving vaccines by reducing inconveniences associated with refrigeration, maximizing efficiency of nasal delivery, and eliminating the need for follow-up boosters. In 2012, only about 1/3 of teenage girls in the United States actually received all three doses of the HPV vaccine. In 2011, only 9% of children worldwide received all three doses of the rotavirus vaccine. Vaccine compliance could be dramatically increased by eliminating the need for booster shots, and availability could be greatly improved by eliminating the need for refrigeration! Let’s hope that researchers can create effective nanovaccines that will work in humans!

http://consumer.healthday.com/diseases-and-conditions-information-37/misc-diseases-and-conditions-news-203/no-fridge-nasal-vaccines-on-the-drawing-board-685870.html

New “mouse trap” for cancer cells could revolutionize glioblastoma treatment!

3d rendered illustration - brain tumorGlioblastoma is an aggressive form of brain cancer that can be difficult to treat. The tumors are often located in inaccessible areas, making surgery impossible. So researchers in Atlanta got creative and figured out a way to make the cancer cells more accessible. And their technique is not unlike the concept of a mouse trap- but for this one, rats helped figure it out!

Glioblastoma cells migrate along nerves and blood vessels. And researchers used that information to their advantage by creating a small rod that mimics the shape of these nerves and blood vessels. Through animal studies in rats, they’ve shown that the cancer cells then ‘take the bait’ and migrate along this rod. At the end of the rod, the cells are met with a cancer-killing drug. So instead of delivering drugs to the tumor, the tumor comes to the drug!

This could make a huge difference for patients with inoperable tumors. Not only could this cancer cell “mouse trap” lure cells into an area that would be easier for doctors to access, but it could also work by shrinking slow-growing tumors to the point where they wouldn’t be able to do as much damage. Let’s hope that this treatment makes its way into human trials quickly!

http://www.newscientist.com/article/dn25063-fishing-rod-reels-brain-tumour-cells-to-their-death.html#.UwaZBlMo6P9

Are there animals in YOUR medicine cabinet?

Dog and pills.How have animals helped YOU today? If you’re not familiar with research, you might not have any idea. But did you know that most of our medical advances wouldn’t have been possible without animals? It’s amazing to learn about the ways they’ve helped us!

Antibiotic ointment, aspirin, cold medicines, penicillin, anti-depressants, blood pressure and cholesterol medications, insulin, anti-coagulants, anesthesia, HIV drugs, chemotherapy, dialysis, CT scans, MRIs, prosthetics, organ transplants, and thousands of other medications and procedures were developed and determined to be safe for your use, thanks to dedicated researchers and the animals they work with.

The list goes on. I will guarantee that every person reading this has benefited from at least some of these advances. What’s more, I’ll bet your pets have benefited as well! And that’s a wonderful thing! Think of the symptoms we can alleviate due to medications, the life-threatening emergencies that we can SURVIVE, and the illnesses that our children may never get, thanks to vaccines. Polio, measles, cervical cancer, rabies, chicken pox, whooping cough, tetanus, Hepatitis B- and that’s just the beginning of the list!

EMBRACE it. Be thankful for it. The next time you reach into your medicine cabinet, take a minute to think about the scientific advances that led to the development of the medication that’s about to help you!

http://news.discovery.com/animals/animals-in-your-medicine-cabinet-photos-140204.htm

http://fbresearch.org/wp-content/uploads/2013/07/AADflyer-hires.pdf

A father, a rare disease, and a second chance

iStock_000014156140SmallHave you ever heard of Pompe disease? It’s a rare degenerative disorder that affects approximately 1 in 40,000 people, and it causes progressive muscle weakness. And children with the disease usually died of heart failure within a few years- that is, until one father did something about it.

John Crowley is a proud father of three, and two of his children have Pompe disease. After his children were diagnosed at extremely young ages and he found out that there was no cure for the disease, he quit his job as a drug company executive and started his own biotech firm- and developed a successful treatment that would keep his childrens’ hearts from failing.

While his children- now 16 and 17 years old- are still facing challenges from this disease, they are most definitely a shining example of hope and determination. A modern-day “Superman” of a father stopped everything to give his kids a chance. And that’s what we need- superheroes on a mission to raise awareness and show the ingenuity and passion required to develop new treatments and cures for rare diseases.

YOU can help. Speak up, raise awareness for these diseases and the children fighting them, and advocate for basic science and advancements made possible through research. Pass this on- share it with your friends and family, and let one father be an example of what we can do with the right amount of determination!

http://m.us.wsj.com/articles/SB10001424052702304854804579236133090050044?mobile=y