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

Raising awareness about Wilson Disease

Sara Racine, shown here with her children, was very ill and with proper care has gone on to lead a very happy and successful life.

Sara Racine, shown here with her children, was very ill and with proper care has gone on to lead a very happy and successful life.

All of us need some copper to survive, however some people are born with a genetic disorder that eliminates the body’s ability to remove excess copper. This is called Wilson Disease and it affects about 1 in 30,000 people worldwide. If left untreated, copper levels can become dangerously high and cause severe tissue damage in the liver and brain. In some cases, it can be fatal.

Sara Racine, of North Branch, was born with Wilson Disease, but she did not know it until much later as a college student in her 20s.

“My primary doctor had been running some blood work on me for annual physicals, and my liver function levels were always elevated. I started not feeling well. I was tired all the time. I had no energy to really do the daily tasks of going to college. My doctor couldn’t really explain what was going on. My gallbladder had signs of not working well, so they thought that if I had it removed that I would be feeling better.

However, when it came time for the procedure to remove her gallbladder, Sara’s blood work showed that her liver function and enzymes were far from normal and the surgeon would not operate.

“By that time I was feeling defeated and upset because I just wanted to feel better. I remember feeling scared at that time because nobody knew what was going on with me and had no clue how to make it better. With my energy even more depleted, I had to drop out of school because I knew I wasn’t going to be able to function. I had no energy to do anything.” Continue reading

Genetic testing leads to diagnosis for rare Von Hippel Lindau disease

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Haley Miller and her daughter, Layla

 

Haley Miller, now a wife and mother of two, went to her first genetic testing appointment at age 20.

“It was around 1999 and genetic testing had just been developed. As soon as it had, the doctor recommended our whole family go, so we did,” Miller says.

Most families don’t just think of setting up genetic testing, but when Miller’s father was diagnosed and eventually passed away from complications of Von Hippel Lindau, their family knew it could only help.

Von Hippel Lindau (VHL) is an inherited disorder where those affected experience abnormal growth of tumors and cysts throughout the body. The tumors can be both benign and cancerous and many of them can be found in the adrenal glands, kidneys, pancreas and central nervous system. Those affected by VHL undergo body scans each year to check for progression and changes in the disorder. 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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