Researchers

There are many brilliant and important researchers working to overcome the various challenges raised by PMD.

Some are trying to find a better way to diagnose the disease. This is especially important when you consider the fact that 25% of the PMD population are diagnosed by symptoms only and do not have any verification via known testing procedures. (Can you imagine how you would feel if you were told that your son has PMD, but yet all of his blood tests came back negative and there were no other explanations to offer?)

Other researchers are trying to get myelin to form in the central nervous system of animals that have been specially bred to have a certain PMD mutation. The Jimpy mouse model has a sex-linked recessive mutation located in the gene coding for PLP (Dautigny et al, 1986; Schneider et al, 1995). The creation and testing of these animal “models” expands our knowledge base of the physiological aspects of PMD without endangering our boys.

The newer techniques utilizing stem cells to replace defective oligodendrocytes is also very encouraging. Stem Cells Inc.’s Phase I Trial on connatal PMD patients demonstrated small, but discernible increases in myelin. Continued testing on a larger population (with control subjects) is needed to determine the true potential of this treatment. Read up-to-date information about this under the News category.

If a technique is created to successfully form sufficient myelin, then not only might a treatment for PMD be on the horizon, but this technique could then be applied to help or cure people with any of these diseases:

Multiple Sclerosis
Canavan Disease
Krabbe’s Disease
Metachromatic Leukodystrophy
Adrenoleukodystrophy
Lesch-Nyhan Leigh’s Disease
Parkinson’s Disease
Alzheimer’s Disease

Still other researchers are trying to figure out how to solve the “protein puzzle” or the proteome issue. The Human Genome project identified and sequenced almost all letters of the human DNA, but that’s only the tip of the iceberg. Every gene creates a protein, and sometimes more than one. Every protein folds into a unique three-dimensional shape that is very intricate and sensitive to its function. Sometimes these proteins perform functions by combining with several other proteins that each have their own unique three-dimensional shape. Even in this age of supercomputing and technological advancement, computing power must increase to allow the scientists to work effectively with multiple 3-D models at-a-time.

Add to that the fact that PMD is a relatively unknown disease with a much smaller affected population because of poor public awareness, and that leaves the scientists with less human DNA to work with. Of the DNA they are working with that positively tests for PMD, there are over 40 documented mutations in the PLP gene. What needs to be done now is to see how each of those PLP gene mutations creates its protein, and how that protein compares to that of a normal PLP gene protein.

Some of the scientists and organizations working on this

Featured

Amsterdam Universitair Medische Centra

Children and adults with hereditary white matter diseases are welcome in our expertise center. We offer diagnostics and patient care, if necessary in collaboration with other departments of Amsterdam UMC.

Adeline Vanderver, MD

Adeline Vanderver, MD, is an attending physician in the Division of Neurology, Program Director of the Leukodystrophy Center, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at Children's Hospital of Philadelphia.

Inoue Neurology Clinic

The Neurology Clinic’s mission is to provide the best neurological care possible. Our team of doctor and staff make every effort to exceed the expectations of patients and their families. We provide advanced diagnostic procedures that include Magnetic Resonance Imaging (MRI), Cat Scan (CT), Ultrasound, Electroencephalography (EEG), Electromyography (EMG/NCV), and Infusion Therapy.

Neuroscience Research Group | Murdoch Children's Research Institute

Dr. Nicole Wolf

My research is about rare congenital brain diseases, hereditary white matter diseases. My main focus area is hypomyelination, a heterogeneous disease group characterized by a lack of myelin. Here we are unraveling new disease genes and disease mechanisms. Another area of interest is metachromatic leukodystrophy, a white matter disease for which treatment, hematopoietic stem cell transplantation, is available at an early stage.

Geneviève Bernard, MD, M.Sc., FRCP(c)

My research focuses on neurodegenerative disorders in children with a special focus on leukodystrophies, a group of inherited white matter diseases of the brain. My research team is investigating the clinical and imaging characteristics of these diseases along with their genetic causes.

Dr Robert Skoff

Our laboratory utilizes different molecular and cell biology techniques to study cell lineages and the regulation of myelin formation. These techniques include in situ hybridization, tissue culture, immunocytochemistry, cell transfections, myelin protein synthesis and targeting using enhanced green fluorescent protein as a marker protein, construction of point mutations in myelin protein genes, etc.

Goldman Lab

In the division of Cell and Gene Therapy, within the Center for Translational Neuromedicine (CTN), our goal is to understand the regulatory control of stem and progenitor cells of the human CNS, and to utilize that knowledge to design new approaches for treating neurological diseases, primarily using cell and gene therapy.

Tesar Laboratory

The Tesar Laboratory sits at the interface between stem cell biology and developmental neuroscience. They use pluripotent stem cells to model neurological development and disease with a specific focus on glial cells in the central nervous system – oligodendrocytes and astrocytes.

Dr. Franca Cambi, University of Kentucky - Research Interests

Dr. Cambi’s laboratory is focused upon oligodendrocyte cell biology, regulation of alternative splicing of genes expressed by differentiating oligodendrocytes and the molecular determinants that regulate oligodendrocyte function in maintaining myelin and axonal integrity during development, in inherited myelin disorders and in injury models.