Sniffle-proof your whole family
This isn't just the start of holiday season; it's germ season as well. That's why many of us will be hacking away and looking a lot like Rudolph before winter is over. "The average adult gets one to three respiratory illnesses each year, and women, especially if they're moms, tend to catch even more," says Charles Gerba, an environmental microbiologist at the University of Arizona and coauthor of The Germ Freak's Guide to Outwitting Colds and Flu.
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Crowdfunding a Genome Sequencing Project
World's first crowdfunded genome sequencing project uncovers 4-year-old's unknown genetic disease
Rare Genomics Institute, Ivy League medical research center identify novel gene variant
St. Louis, MO - The Rare Genomics Institute (RGI), a non-profit organization that uses genome sequencing and other biotechnology to help children with rare genetic diseases, and an Ivy League medical research center have jointly identified a new gene variant in four-year-old Maya Nieder that may indicate a brand-new disease.
This finding marks the first time that a patient-initiated, crowdfunded genome initiative project has uncovered the genetic basis of a rare disease.
Suffering from global developmental delays, Maya has undergone multiple operations, is unable to speak, and has difficulty hearing. Despite visiting countless physicians, her condition had remained unexplained for years. Doctors agreed that "something genetic" was responsible for her condition, yet six genetic tests - each screening for a myriad of known genetic defects - yielded no definitive explanation.
"When you've been looking for the answer for three and a half years, you don't really expect one anymore," said Maya's mother, Dana Nieder, who began working with RGI in the spring of 2011.
By turning to the Internet to raise funds from a large base of donors, RGI is pioneering a funding model for rare disease research. In an overwhelming response, donors across the United States contributed more than $3,500 to the research project for Maya Nieder, with most amounts between $5 and $50 each. The project reached its fundraising goals within just six hours of launching the online campaign.
The funds for Maya and her parents facilitated full exome sequencing to hunt for the disease gene, and less than one year into the project, researchers have found what they believe to be the culprit behind Maya's illness: a gene active in fetal development and early childhood.
Maya's is one of RGI's ten pilot projects that have been created to help children with rare diseases through genome sequencing. By providing a comprehensive look at a patient's genetic code, sequencing enables researchers to identify genetic defects that might otherwise elude standard medical testing.
Since standard genetic testing can only find previously identified mutations, Maya's condition would have remained unexplained without sequencing.
"Though we need to do further research to confirm this first gene discovery, it is a major milestone," said RGI founder Jimmy Lin, MD, PhD, a physician-scientist on the faculty at Washington University in St. Louis and a 2012 TED Fellow. "The most exciting part of Maya's project is that we are enabling research that could not exist otherwise. Through RGI's network of academic institutions and crowdfunding, we hope to remove the barriers to technology access and funding to empower families like Maya's to advance research for their loved one's rare disease."
As research into Maya's condition continues, her researchers are studying the protein coded by the gene in question. This work will help Maya's physicians better understand her condition and may someday point toward a treatment for Maya and other children like her.
The Rare Genomics Institute (RGI) is a non-profit organization that uses genome sequencing and other biotechnology to help children with rare genetic diseases. RGI hopes to provide new answers and treatments to those affected by rare, otherwise unexplainable genetic disorders. Through crowdfunding, RGI aims to bridge the gap between science and patient care by securing funds for patients needing sequencing. For more information about RGI, please visit www.raregenomics.org.
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Maya is a four-year old delight. She's wiggly and giggly and has a partner in crime, her dog Parker. She loves animals, other kids, being naughty, and life as a whole. Dana, Maya's mother, writes an award-winning blog called Uncommon Sense at niederfamily.blogspot.com.
When to Keep a Sick Child Home
It's cold and flu season, which means plenty of moms are facing that age-old parenting dilemma: Do I send my coughing, sniffly child to school? And if I make the wrong choice, will the school nurse call a few hours later asking me to take him back home?
Figuring out when to keep your child home from school and when he's well enough to go back isn't always easy, says Dr. Loraine Stern, associate clinical professor of pediatrics at UCLA School of Medicine in California.
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"The truth is, you can't always tell how sick a child really is," says Stern. For instance, some kids may seem totally fine at breakfast but take a quick turn for the worse and end up very sick two hours later.
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The Worst (and Best) Sweets for Your Teeth
By Dr. Carolyn Taggart-Burns
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When trick-or-treaters ring my doorbell on Halloween, I toss a toothbrush in their bag. But make no mistake -- our neighborhood might as well be Candy Land. My kids got a scary amount of sweets last year, and they only went to a couple of houses. And because they were both too young to eat much of their loot, guess who was tempted by it? Yep, hubby (who has a major sweet tooth) and me, the dentist.
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What You Need to Know About Swine Flu
With so much media attention and information flying around, it's hard to find one coherent source for H1N1 flu information. The Children's Physician Network has put together a comprehensive guide to H1N1 influenza including information on prevention, the vaccine, symptoms and much more. You can find A Parent's Guide to H1N1 Influenza on the CPN website.
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Protecting Baby Teeth
The rate of cavities in baby teeth is on the rise, according to the most recent report on the topic from the Centers for Disease Control and Prevention. In fact, a whopping 28 percent of children 2 to 5 years old have cavities.
Dentists point to several factors contributing to the rise, including increased consumption of juices and soda.
And while baby teeth will eventually wind up with the Tooth Fairy, it's still important to care for them as though they are permanent teeth, with one major difference.
"Parents of young children should steer clear of fluoride toothpastes for their kids until their child has the ability to spit out the toothpaste," said Dr. Theodorou of Glen Ridge Family Dental.
Fluoride is an effective tool in the prevention of cavities, but in young children who do not have the ability to spit out the toothpaste, the consumption of too much fluoride can have a negative side effect known as fluorosis. This can result in unsightly spotting of the permanent teeth.
"It is estimated that kids under 4 swallow between one-third and two-thirds of the toothpaste they use when brushing their teeth," said Dr. Theodorou.
It is therefore recommended that youngsters brush their teeth using a non-fluoride toothpaste. Fluoride-free products such as Baby Orajel Tooth & Gum Cleanser (recommended for babies 4 months and older) and Orajel Toddler Training Toothpaste (recommended for toddlers and children up to age 4) are safe if swallowed when used as directed.
"Using a non-fluoride toothpaste still allows a caregiver to remove the plaque that builds up on teeth, as well as helping to establish a pattern for life of good oral care habits," said Dr. Theodorou.
Other tips for encouraging good oral care health at a young age:
* Select a toothbrush with soft bristles
* Encourage your toddler to engage in brushing his teeth twice a day
* Bring along a "friend" to the bathroom sink - such as a favorite stuffed animal or doll - so the "friend" can also have her teeth brushed
* Encourage toddlers to drink plenty of water after meals. This is especially important with toddlers who won't allow parents to brush their teeth as often as recommended.
For more information, visit www.babyorajel.com.
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"The Best Health Advice I Ever Got"
by Stacey Colino
It's that time of year again when many of us take stock of our lives and try to make things better. Fresh out of ideas? If anyone knows the best ways to get healthy and stay that way, it's the country's top doctors. To get the 411 on what they do to stay healthy, we asked four leading physicians to share the best health advice they ever received. Here's what they told us:
1. Carry your own pen wherever you go.
Where it came from "I actually got the idea from my father, who was an old-fashioned family doctor in the South Bronx in the 1940s," says Neil Schachter, M.D., professor of medicine at the Mount Sinai School of Medicine in New York City and author of The Good Doctor's Guide to Colds & Flu (HarperTorch 2006).
Why it works By carrying your own pen, you avoid the germ-laden ones in doctors' offices, shops, restaurants and other places where you use a credit card or sign in for an appointment. "Nearly every time you're given your charge receipt, you're offered a pen. During the flu season, this pen is passed to dozens of people each day -- and it's a superb carrier of cold and flu viruses," says Dr. Schachter. "By simply using your own pen and not lending it out, you can significantly cut down on your exposure to the cold virus." More germ-fighting tips: Avoid public phones, use a paper towel (or your sleeve) to open restroom and other public doors, wash your hands frequently, carry an alcohol-based hand sanitizer (for those times when a sink isn't available) and avoid shaking hands with someone who is obviously sick.
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