What should U-M medical researchers study next? You can help decide

New WellSpringboard.org site combines crowdsourcing and crowdfunding

Iwsb homepagecropf you wish scientists would figure out a solution for a medical problem you face, or find answers for a loved one who struggles with a health condition, here’s your chance.

The University of Michigan wants your ideas for what its medical researchers should study. You can also lend your voice to ideas suggested by other members of the public, and help them gain steam.

And once a U-M researcher agrees to take up the idea and run with it, you can help make the research happen by donating online or volunteering to take part. U-M will even kick in funds for the hottest ideas.

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A rare achievement for a rare disease

U-M researchers’ work goes from discovery to drug, for Gaucher disease and perhaps more

James Shayman, M.D., one of two U-M scientists who led the development of the drug eliglustat tartrate, now sold as Cerdelga

James Shayman, M.D., one of two U-M scientists who led the development of the drug eliglustat tartrate, now sold as Cerdelga

It took more than 40 years, and a lot of dedication. But an idea born and nurtured in University of Michigan laboratories is now making a difference in the lives of patients with a rare disease.

For one of the first times, a drug developed first at U-M, and then further by a company, made it through all the steps it takes to reach patients around the world.

And even though the disease it treats only affects about 10,000 people worldwide, it’s become a product that a company can sell and doctors can prescribe to their patients. In this case, it’s patients with the debilitating and potentially fatal rare condition called Gaucher disease.

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Guidance counselors for your genes?

At-home DNA tests, and disease-specific tests, make genetic counselors more important than ever

Genetic counselors can help anyone understand their genetic risks, or results of genetic tests.

Genetic counselors can help anyone understand their genetic risks, or results of genetic tests.

Once upon a time, getting your DNA tested was a rare thing – as rare as the genetic diseases that the tests tried to detect.

But no more.

These days:

  • You can order a kit through the mail that can tell you what diseases you’re at risk of developing down the road.
  • Your doctor can order dozens of tests to look for specific changes or variations in your DNA that might be causing your symptoms, or putting you at risk of future problems.
  • Or if you’re pregnant, you can have your doctor draw a vial of your blood, which you can send in to get information about the DNA of your future child.

And the ability to personalize treatment based on the exact gene variations you carry in your body is speeding up for many conditions.

How is an ordinary person supposed to make sense of all this genetic information?

And what do you do if you take a test and it shows you have a high risk or a current problem?

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Lipodystrophy: When fat loss isn’t a good thing

“My mom knew since my birth that something wrong was going on, but didn’t know what exactly,” says Daizha Hill, now 16 years old. “She kept a book where she would write down every symptom I was having when I didn’t feel good. Then she would try to look them up online to see what she could find out.”

Daizha and her mother, Juanita Brooks-Hill, went to several doctors in the Metro Detroit area looking for answers to her symptoms. Meanwhile, Juanita kept searching online for experts that helped patients with symptoms that matched what Daizha was experiencing.

That’s when she stumbled across Dr. Elif Oral, an endocrinologist, on the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) website. After further searching, she found that Dr. Oral had recently moved to the University of Michigan in Ann Arbor, which meant she was not too far away from them.

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Daizha and Dr. Oral

After a few appointments with Dr. Oral, Daizha was officially diagnosed with lipodystrophy. Continue reading

An accidental geneticist, with a special purpose

U-M scientist studies rare bone-growth disorder, skeletal dysplasia, that affects her son

Geneticist Sally Camper, Ph.D.

Geneticist Sally Camper, Ph.D.

Sally Camper calls herself an accidental geneticist. But it’s no accident that her discoveries have helped solve many mysteries deep within human DNA.

Working with scientists around the world, she’s helped find the genetic causes of several rare birth defects.

Including ones like the disease that affects her own son.

In fact, she says, being the parent of someone with a rare disease has given her a new perspective on just how important genetic research really is.

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Did norovirus just make you sick? U-M researchers are working to understand why

Stool samples now being collected from current and recent sufferers

A microscopic view of norovirus particles. Source: Centers for Disease Control & Prevention

A microscopic view of norovirus particles.
Source: Centers for Disease Control & Prevention

It came on like a thunderbolt, and is still making people sick and miserable across Ann Arbor.

But the norovirus outbreak that put the University of Michigan in the spotlight over the past week may have a silver lining.

Resarchers are working to better understand this virus that sickens tens of millions of Americans each year.

Just last week, a U-M Medical School research team received permission to begin collecting stool samples from people who are experiencing norovirus-like symptoms or just recovered in the past three days.

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