Dejerine-Sottas

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A message from the Christopher Reeve Action Network: Crank up the heat on stem cells this August!

July 30, 2005

Filed under: Action Alerts

Today, Senator Bill Frist announced his support of the Stem Cell Research Enhancement Act, HR 810. We appreciate his thoughtful consideration of this critical issue. Senator Frist’s announcement brings us one step closer to expanding federal funding of embryonic stem cell research and harnessing the power of government to find better treatments and cures for millions of Americans. While we are disappointed that the Senate did not hold a vote this July, we look to Senator Frist’s leadership to quickly pass the Stem Cell Research Enhancement in the United States Senate this fall. In the meantime, we need your help. [Christopher Reeve Action Network]

Nano World: A nano DNA-delivery system

July 26, 2005

Filed under: Gene Therapy

Scientists have used silica nanoparticles loaded with DNA to deliver genes safely into mouse brains, a technique that could lead to gene therapies able to repair cells more safely and effectively than current methods, which rely on viral vectors.
Gene therapy seeks to transport genes into the body to treat disorders such as sickle cell anemia, cystic fibrosis, muscular dystrophy and hemophilia by supplementing unhealthy mutant genes with therapeutic proteins. With conventional viral-vector gene therapy, the body’s immune system often reacts and seeks to destroy the transported genes, rendering them ineffective. Moreover, the viral carriers may damage chromosomes when they insert genes.

Drawing with DNA: ‘Bioart’ illuminates genomics

July 21, 2005

Filed under: Genetics

Readers in the Los Angeles area may be interested in the following exhibit at SIGGRAPH 2005:

On any given day, tens of thousands of biologists around the globe run DNA sequences of unknown function through a lightning-fast online algorithm called BLAST – typically submitting 200 to 400 base pairs, or “letters” of genetic code, to be matched against the billions of letters for known genes. Searching for similarities that can shed light on functional or evolutionary relationships, scientists routinely use BLAST to churn through and produce vast amounts of data. Everyday applications include genetic medicine and pharmaceuticals. Yet this process and, more generally, genomics remain dimly understood by the public.
Ecce Homology,” an interactive “bioart” installation to be showcased at SIGGRAPH 2005–in Los Angeles, July 31 through Aug. 4–quite literally makes BLAST and genomics visible. [Medical News Today]

My Sister Laura Goes to Jail… for Good

July 12, 2005

Filed under: Fundraising

Today my older sister Laura participated in the MDA Lockup to raise money for MDA’s summer camp program. For the past few days she’s been thoroughly enjoying calling family and friends to gleefully announce her impending jail time just to elicit their shocked reactions, and this morning she was finally dragged off.
Laura was charged with being “caring, good-natured and influential”, and sentenced to serve time at MDA’s jail site, a local bar and grill. She had her mugshot taken wearing a chic little black-and-white ensemble with horizontal stripes.
I am pleased to report that she raised nearly $800 in bail; more than enough to send a lucky kid with neuromuscular disease to camp. Way to go, Laura!

The Neuropathy Association’s Biennial Meeting Offered Help and Hope

July 8, 2005

Filed under: Search for a Cure

Zarifa Sahenk, M.D., director of the Neuromuscular Division and the Experimental Neuromuscular Laboratories at Ohio State University, outlined advances in her studies of the role of neurotrophin-3 (NT3) in nerve regeneration in patients with Charcot-Marie-Tooth (CMT) neuropathy. NT3, which encourages nerve growth, is secreted by the Schwann cells that form a protective insulation (myelin sheath) around peripheral nerves. [The Neuropathy Association]

Giving Genetic Disease the Finger

July 7, 2005

Filed under: Gene Therapy

Scientists are closing in on techniques that could let them safely repair almost any defective gene in a patient, opening the door for the first time to treatments for a range of genetic disorders that are now considered incurable.
The breakthrough, announced in the journal Nature in June, relies on so-called zinc fingers, named after wispy amino acid protuberances that emanate from a single zinc ion. When inserted into human cells, the fingers automatically bind to miscoded strands of DNA, spurring the body’s innate repair mechanism to recode the problem area with the correct gene sequence. [Wired]

Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene

July 6, 2005

Filed under: Journal articles

We describe a father and daughter with Dejerine-Sottas syndrome and bilateral vestibular loss due to an L71P missense mutation in the peripheral myelin protein 22 (PMP22). The combination of vestibular loss and peripheral neuropathy led to profound imbalance at a young age. It is important to recognize this combination of peripheral nerve and vestibular deficits since rehabilitation strategies and prognosis are different. [PubMed link]

Nerves’ Growth Depends On ‘Dual-action’ Protein

July 5, 2005

Filed under: Search for a Cure

By studying nerves in “pre-tadpole” frogs, researchers at the Johns Hopkins Institute for Cell Engineering have uncovered the first link between two key biological factors that guide growing nerves.
The finding sheds light on how nerves grow in the right direction so they can connect to the right places–critical information to have if damaged nerves are ever to be repaired in people. In particular, the discovery reveals for the first time how the guidance cues that attract or repel the tip of a growing nerve influence the flow of calcium ions into the nerve cell, solving a decades-old mystery.
“For 20 years researchers have known that calcium flow is critical for proper nerve growth, but no one has known how it gets into the nerve in response to a guidance cue,” says Guo-Li Ming, M.D., Ph.D., assistant professor of neurology in the Institute for Cell Engineering’s Neuroregeneration and Repair Program. “Now we have some details about how that happens in frogs. The findings are likely to hold for other animals and people, too, because we have similar versions of these proteins.”

Read the rest of the article at Science Daily.

Looking for Cures

July 4, 2005

Filed under: Search for a Cure

The University of Pittsburgh is making a big push into drug discovery by opening a laboratory that will focus exclusively on treatments for rare diseases, especially some kinds of cancer….
New treatments for a range of similar diseases, including Parkinson’s, Lou Gehrig’s and Alzheimer’s, also may be discovered in the new lab, according to Dr. Steven DeKosky, director of the Alzheimer’s Disease Research Center at Pitt. In this family of medical problems, protein molecules go bad, setting off a cascade of cellular changes that result in neuromuscular problems, including difficult speech and movement, DeKosky said.
The hope is to find compounds whose molecules block the start of the cascade, kind of like finding a key that fits a specific lock, said DeKosky. “It’s a hugely exciting time.”

Read the rest of the article at MSNBC.