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Rare diseases rarely get funding

Rexford-based nonprofit sees hope in research on illnesses with shared biological traits
By Claire Hughes
Published 8:22 pm, Wednesday, July 24, 2013
  • Bill Jaremko, foreground, a fourth year PhD student, works on a computer, as Paul Agris, background left, director of the RNA Institute at UAlbany, and Zhen Huang, a research scientist at the institute, discuss research in the lab of Li Niu, chair of the UAlbany Chemistry Department on Wednesday, July 24, 2013 at the UAlbany campus in Albany, NY.  Researchers at the lab are working with RNA to try to correct a protein malfunction, which may alleviate symptoms associated with ALS.    (Paul Buckowski / Times Union) Photo: Paul Buckowski / 00023294A
    Bill Jaremko, foreground, a fourth year PhD student, works on a computer, as Paul Agris, background left, director of the RNA Institute at UAlbany, and Zhen Huang, a research scientist at the institute, discuss research in the lab of Li Niu, chair of the UAlbany Chemistry Department on Wednesday, July 24, 2013 at the UAlbany campus in Albany, NY. Researchers at the lab are working with RNA to try to correct a protein malfunction, which may alleviate symptoms associated with ALS. (Paul Buckowski / Times Union)


From the kitchen of her Rexford home, Lori Sames runs the nonprofit Hannah’s Hope Fund, which most recently raised nearly $1 million to finance safety studies needed for drug trials that could help her daughter and others with giant axonal neuropathy.

That’s the kind of energy some parents expend when their children have “orphan” diseases, those that affect too few patients to warrant large investments in research by drug companies or taxpayers.

But what if a bunch of rare diseases had shared biological processes? Understanding the mechanisms underlying them could produce better returns on risky research investments, as the results could potentially affect larger numbers of patients, some local scientists say.

A contingent including Sames, Sen. Kirsten Gillibrand and representatives of the University at Albany, state Health Department‘s Wadsworth Center and the National Institutes of Health are scheduled to be in Washington, D.C., Thursday to brief Congress on this idea.

“Our ultimate goal is that Congress will start thinking about some kind of legislation that would allow universities to apply (to run) national centers on rare and neglected diseases in which the focus is RNA,” said Paul Agris, director of UAlbany’s RNA Institute.

Orphan diseases are those that affect 200,000 patients or fewer. They include conditions like GAN, rare forms of breast cancer and Alzheimer’s diseases. Some, like Alzheimer’s, receive more research funding because remedies may potentially help other patients with similar disorders or because medical experts forecast many more people will develop the illness.

Others, like GAN, get little attention. The disease afflicts just dozens of patients across the country, according to Sames.

RNA may be a key to understanding groups of rare diseases, Agris said. GAN, amyotrophic lateral sclerosis (ALS, or Lou Gehrig‘s disease), Parkinson’s disease and Alzheimer’s disease, all neurological disorders, have in common the undesirable accumulation of a particular protein in the brain, for instance. RNA is involved in the production of this protein.

Most people are more familiar with DNA, through biology class or TV crime shows. It’s a person’s genetic blueprint. Manipulating it as a potential medical remedy has proven dangerous, Agris said.

RNA comes in different forms. Some RNA molecules replicate the DNA and send its genetic message to the cell. Other RNA molecules act as what Agris called “middle managers,” turning genes on and off, or dimming their display, like a light switch. These RNA molecules produce various proteins to get their jobs done.

It’s flaws in this middle manager process and protein production that rare diseases might share, Agris said.

“We can try to connect different rare diseases that look distinguishable from the end products — from the symptoms that you see — but have a commonality in what genes are turned on and how RNA plays a role in turning those genes on and off,” Agris said.

Sames, 44, who founded Hannah’s Hope Fund in 2008, said she was looking forward to the chance to tell Congress about the challenges parents face when left with the job of advancing medical research on their own. She will argue, she said, that investing in cures would be more cost-effective in the long run than paying for ineffective treatments and palliative care at the end of too-short lives.

“I’ve fantasized about this day for five years now,” she said.

It’s National Charcot-Marie-Tooth Awareness Month,

September, 2011

SEASIDE — A month dedicated to Charcot-Marie-Tooth disease (CMT) has been planned for the month of September as proclaimed by the Charcot-Marie-Tooth Association (

CMT is a progressive disorder that causes faulty nerve cell transmission leading to muscles in the extremities to slowly atrophy, resulting in the loss of normal use of feet/legs/hand/arms. It may also lead to a loss of sensory functions, orthopedic deformities and weakness of the respiratory muscles that can cause life-threatening problems.

Mary Kay Taylor of Seaside is one of five family members who all inherited CMT type 1A. She is one of the advocates for an annual awareness day to promote public education, reduce misdiagnosis, and increase funding to support CMT related treatments and total arrestment.

She is also coordinating events to bring more awareness and raise funds, and is starting a support group. For information about the support group, email or call (503) 738-8223 or stop by Omega Realty, 1700 N. Holladay Drive in Seaside.

“Now is the perfect time to bring families, health professionals, and local organizations together, and to draw attention to the genetic truth about CMT,” said Taylor. “This month is all about hope for treatment and arrestment of the disease. It is also a time to educate the general public.”

“My sister Sarah, and others, have passed away from CMT,” Taylor said, “but yet seldom are the health care and public informed that CMT can be fatal. So, like my sister, many people don’t get the help they need.”

Taylor has actively studied the many facets of the disease and is a member of a global support network for people with CMT, CMTUS.

For information on CMTUS, go to cmtushope. info or email sag_santa

Ken Gomez

Ken Gomez biking across US for CMT

Biking Across Country Raising Funds for CMT

When Ken Gomez retires in June, 2011, his decades of training will help him as he bikes 4,200 miles across the country in an effort to create awareness about Charcot-Marie-Tooth disease (CMT) and to raise funds for the Charcot-Marie-Tooth Association’s STAR research initiative. He is planning to start in Anacortes, WA, and end in Bar Harbor, ME.

Bicycling across the country would be an extraordinary feat for anyone, but it will be an even greater triumph for Ken, who has CMT. So does his son Paul, who is a vented quadriplegic because of his CMT. Many of Ken’s relatives also have the disorder, so he has personally witnessed the challenges that people with CMT face, and he is determined to do what he can to make their lives better.

Charcot-Marie-Tooth is the most common neuropathy in the world, yet it is not well known. Contrary to the name, it has nothing to do with teeth.

“It was discovered by three French guys that couldn’t come up with a better name than their last names,” Gomez joked.

Over 2.6 million people are affected by the disorder, where people slowly lose normal use of their feet, legs, hands and arms as nerves to them degenerate. The muscles in the extremities become weakened because of the nerves’ degeneration.

I had the pleasure of meeting Ken when he came to one of our upstate NY CMT group meetings. This is a wonderful opportunity to double your contribution, since the Paul Flynn Charitable Trust will be matching up to $22,000 of donations made to Ken’s Ride.

To donate:

Retrieved from:  Scoutsman Online


Read the latest blog post with more information on the planned route.

A little route info « Ken’s Ride

I should say that my route is pretty much set now, and the entire route is approximately 5500-6000 miles. I am going to average about 60 miles per day,and as you know, some days will be shorter and some longer. I have not planned rest days but I am figuring I will take one every 8-10 days or so.

Living with Charcot-Marie-Tooth Disease:

Misunderstanding of the genetic nerve disorder starts with its name.

by Kaye Bennett

Should you be given this Jeopardy answer, “It’s a genetic nerve disorder that has nothing to do with teeth,” the correct question is likely to be, “What is Charcot-Marie-Tooth Disease?” Read more: from the Kalamazoo Gazette about a woman adjusting to being diagnosed with CMT:

Related Articles: Charcot-Marie-Tooth disease – All Information (

football game funds for CMT

Young football player raises funds for CMT

PLAINVIEW, N.Y. – Young Zach Korowitz carried the ball on Sunday for over a 20-yard gain, dragging tacklers with him as he moved the chains. Later, as a defensive lineman, he helped put pressure on an opposing quarterback three plays in a row.

Although Charcot-Marie-Tooth disease involves loss of muscle tissue and touch sensation, Korowitz doesn’t let CMT, slow him down.

Retrieved from story by Jon Wagner.  Event signage by Jon W.

Local Father and Daughter Cope with Neuromuscular Disease Together

Retrieved from

It’s not often you’ll find two members of an immediate family living with a neuromuscular disease, especially a father and his daughter. “Having my dad be handicapped and understand what I’m going through, my parents never felt that I was a burden,” Emily says. “I think sometimes we get on each other’s nerves a little which is understandable or I get on hers because I am older and my ways are shall we say more established.”


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