Research labs

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Research labs and projects around the world

Dr. Beggs | Dr. Wallgren-Pettersson | Assoc. Prof. Laing
ENMC | Bibliography

www.inmr.com.au/inmr_news0.html

http://www.york.ac.uk/depts/biol/staff/jcs.htm

Toadfish Help in Muscular Disease Fight
http://www.vetscite.org/publish/items/001678

Breakthrough Discovery of the Genetic Cause of Nemaline Myopathy in the Jewish Population

http://www.fordham.edu/general/whats_new/topstories354.html

Clinical testing for actin mutations is available now.

Dear David,

I am writing to let you know about a piece of information that may be interesting to know. Clinical testing for actin mutations is available now. We have been working with a Maryland, USA-based company called GeneDx in order to set this up. As you know, NM is caused by at least 5 different genes, and this test would screen for mutations in one of them. Results will be available in approximately 4-6 weeks. Anyone who might be interested in obtaining this test should discuss it with their doctor. The doctor is responsible for ordering the test to GeneDx, just like any routine test is ordered.

In the meantime, we will continue our NM research, screening the remaining 4 genes as well as hopefully finding new ones!

Take care,
Ana
--
Ana Morales, M.S.
Genetic Counselor and
Research Studies Coordinator
www.childrenshospital.org/research/beggs

Your help
A simple questionaire and a painless skin sample can greatly help the research laboratories around the world. If you would like to assist medical research, then please contact me and I will pass on your details to the scientists involved.

Call for Patients
A doctor in Italy is looking for patients to help in a study.
A research lab in Italy is looking for families who have had identical twins born with NM.

Dear David

I am a medical doctor and I work on Nemaline Myopathy with Dr. Porfirio. We have been doing ACTA1 mutations screening in the last years, and out of a
small group of patients (less than 20) we have identified two couples of identical female twins with a de novo ACTA1 mutation. Could that be just a
coincidence?... Do you know of any other monozygotic twins with NM? There is also a chance that one twin died soon after birth, so even if you don't
know any, we are wondering if you could insert a notice in the website or in the NM Chat Group about identical twins or NM patients who had a twin,
and ask them to contact us.

Yours sincerely
Claudio Graziano - cgraziano@unifi.it
______________________
Claudio Graziano, MD
Sez. di Genetica Umana
Dip. di Fisiopatologia Clinica
Viale Pieraccini 6
50139 Firenze
Italy.

Professor John Sparrow, England, UK.
Human skeletal muscle myopathies of thin filament proteins.
More than 60 mutations of the human skeletal muscle actin gene, ACTA1, cause severe (usually fatal) skeletal myopathy. Similar mutant effects are also described for other muscle thin filament protein mutants. In a subset of mutants that cause nemaline myopathy (dense rods in the muscles) in human muscles we have found a related, unusual structure (tiger-tails). Can we use tiger-tails as model to understand how nemaline myopathies arise? Project approach would be to use transgenic flies to study muscle development of the mutants using EM and a range of biochemical assays on the purified proteins.

References
Razzaq et al. (1999). J. Biol. Chem. 274, 28321-28328
Nowak et al. (1999) Nature Genetics 23, 208-211

Prof. Kate Bushby
Insitute of Human Genetics
University of Newcastle Upon Tyne
UK

Prof. Steve B. Marston
Royal Brompton and Harefield Hospital
London, UK
Investigation of the functional consequenses of nemaline myopathy mutations in human muscle actin.

Research lab in Brazil
Website written in portugese and english about the research laboratory in Brazil.
Click Research lab in San Paulo then, Research, Members, Mariz Vainzof.

Gene Reviews
The GeneReviews web site, a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. A one-time registration process is required.
On 25 June 2002, I received an email from Gene Reviews to inform me that they have added the Nemaline Myopathy Foundation as a resource to their article on nemaline myopathy.
GeneReviews is an online publication of the University of Washington, funded by the National Institutes of Health (NIH), and is freely available on the GeneTests-GeneClinics website. GeneReviews entries are viewed about 2,000 times each day by more than 30,000 registered users.

Collaborating
International collaboration is crucial for research into rare, but global disorders, such as nemaline myopathy. We are collaborating with research groups in Australia, Belgium, Canada, France, Germany, Italy, The Netherlands, Spain, UK, and USA. To promote research into nemaline myopathy and elucidate its clinical and genetic heterogeneity, the ENMC International Consortium on Nemaline Myopathy was formed in February 1996. The Consortium has 26 members from 11 countries.
Dr. Carina Wallgren-Pettersson

Miscellaneous Facts
The facts below are all things I have read in various scientific papers and articles published on the web.

By October 1989, only 13 CNM patients were known in Finland which has a population of 5 million. The only official figure is an estimate of 1: 50,000 people having NM.

In a report three children with NM were noted to experience malignant hyperthermia induced by anaesthesia for surgery. Heart rate decrease and body temperature increase occurred. Anaesthetists should be informed of a nemaline diagnosis.