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NCL Foundation Postgraduate Fellowship Award - Request for Applications

The NCL-Foundation aims to find a cure against Neuronal Ceroid Lipofuscinosis (NCL; Batten disease) an LSDs which is the most common neurodegenerative disease of childhood.

The NCL Foundation invites medical and basic science researchers worldwide to submit innovative clinical oriented or translational basic science projects, which can contribute to finding a cure for juvenile NCL. Scientists from related areas of science including Alzheimer's disease, aging, and other lysosomal storage disorders, are particularly encouraged to apply with the aim to extend the NCL research community in move more efficiently towards a cure for NCL.

Grant monies (50,000 euros) are to be used for a postgraduate fellowship in order to undertake the research project. The Foundation’s aim is to promote the next generation of young NCL research scientists. The official award ceremony will take place as part of a charity event at the end of 2008.The deadline for applications is October 31, 2008.

An application form can be downloaded from the foundation homepage: Please send your application solely via email to:

If you have further questions, please contact: Dr. Frank Stehr, Head of Research and Marketing, NCL-Foundation, Holstenwall 10, 20355 Hamburg, Germany


Batten Disease - opportunities for training and research updates.

The Batten Disease Family Association continue to work with its members and key professionals with expertise in Batten's to organise opportunities for training support for carers and professionals and for affected families to keep up-to-date with the latest research developments.

Second Training Day

Following the success of their oversubscribed a training day at Guy's Hospital, London on November 14th 2007, The Batten Disease Family Group UK and Batten Disease UKProfessional Interest Group are running another course on April 17th, 2008. The course is designed to inform and support carers and professionals working with young people with a diagnosis of Batten Disease at home, in school and in other settings. There will be a morning program of short lectures followed by afternoon workshops. It is hoped that the meeting will be fairly informal, encouraging active participation and discussion and providing an opportunity to meet with others and share experience for teachers, teaching assistants, carers, respite workers, therapists, social workers, practice and community nurses. For more information and an outline programme click here, or contact Dr Ruth Williams .

Second Lab Day

Last June Last June, a group of 30 family members, scientists and professionals met at the Pediatric Storage Disorders Laboratory of Dr Jon Cooper at King’s College London for an update entitled ‘Moving Towards Therapies for Batten Disease?’ This involved a conference on current worldwide Batten Disease research and therapy developments and the opportunity to tour Dr Cooper's new lab and meet the rest of his team as an 'open day' initiative. The afternoon conference also included two personal family stories about the Stem Cell Therapy their children with Late Infantile Batten Disease had received in China and another on prenatal screening and embryo selection. Dr Ruth Williams, a Consultant Pediatric Neurologist at the Evelina Children's Hospital in London, talked about "Quality of Life" and improving it, as well as other medical issues.

The day, co-hosted by the Batten Disease Family Association with leading Batten Disease research and clinical professionals, was very successful, both for families meeting each other as well as having the time to discuss and talk in more detail about current developments in Batten Disease. As the feedback from the day has been excellent – everyone found it very interesting and supportive - all agreed that another one should be organised in 2008 so the next one ‘Taking steps towards therapies for Batten disease’ will be held on Tuesday 17th June 2008, again at Dr Cooper’s lab in London. If you are interested, please contact Jan Sablitzky, BDFA Development Officer ( for further information.

Brains For Brain

A new European Task Force on Brain and Neurodegenerative LSDs, Brains for Brain, has been established to bring together the expertise of a number of scientists and clinicians, to create a coordinated approach to understanding the pathophysiology of neurological disorders in LSDs and develop strategies to overcome the problems of getting drugs to pass across the blood brain barrier. The group held a symposium in Madrid in March 2007, at which the Brains For Brain initiative was born. This initiative, led by Dr Maurizio Scarpa (Padova) and Dr David Begley (London) is applying for funding from European Framework 7. Draft Paper


US MPS Society Campaign to "Join The Search"

Barbara Wedehase, Executive Director of the US MPS Society, and Vice Chair of GOLD, explains:

Join the Search for Patients with MPS is a National MPS Society education campaign to identify and help diagnose children who suffer from MPS and related diseases. The campaign launched Friday, February 24, 2006 in conjunction with National MPS Awareness Day individuals with MPS and ML, families and genetic experts from across the country convened in New York City to unveil a photo exhibit of children with MPS and ML and preside over the closing bell ceremony at The NASDAQ Stock Market.

Early diagnosis and intervention are critical for MPS, yet often delayed because some of the initial symptoms may be perceived as common medical problems that children of similar age experience. Through this campaign, we intend to generate much-needed awareness to help parents and physicians recognize and diagnose the disease earlier to ensure that children get the care that they so desperately need.

The campaign includes multiple communications approaches to provide physicians and the public with tools to facilitate recognition of the signs and symptoms of MPS.

For the public, we have created a photo exhibit and website to put a face on all seven forms of the disease, and to commemorate the individuality of those affected by MPS diseases. The exhibit serves as a visual and personal reminder of the wide variety of clinical severity that makes MPS unique and, in some cases, challenging to recognize. Over the coming months, this exhibit will travel all over the country to various public venues.

For physicians, the Society is asking the broad range of specialists involved in caring for those with MPS diseases during their path to diagnosis to take a pledge to search for these patients and encourage their colleagues to do so as well. By taking this pledge, physicians will receive educational materials to help increase disease awareness and to facilitate earlier diagnosis through referral to geneticists.

Families are taking Join the Search brochures to their physicians, asking them to take the pledge to join the search. The website, has a section for families to submit a story about their child, a personal way to participate in Join the Search campaign and to celebrate their child. A sample press release was sent to all families for use with their local media.

If you are interested in hosting the photo exhibit in your community, please contact the Society’s office, 207.947.1445. The communities hosting the photo exhibit will be listed on the Society’s website and Join the Search website. Additional brochures to give to your physicians are available from the Society.

We encourage you to participate in this exciting and innovative campaign. Our awareness raising efforts will also help secure the public attention and support that MPS deserves

Identification of Sanfilippo C (MPS IIIC) Gene

Dr Don Mahuran's group at the Research Institute, Hospital for Sick Children, Toronto, have recently identified the gene defect responsible for MPS IIIC:

Fan, X., Zhang, H., Zhang, S., Bagshaw, R.D., Tropak, M.B., Callahan, J.W., Mahuran, D.J. 2006. Identification of the gene encoding the enzyme deficient in MPS IIIC (Sanfilippo type C). American Journal of Human Genetics 79:738-744.

Dr Mahuran summarises the paper:

Mucopolysaccharidosis IIIC (MPS IIIC) or Sanfilippo C represents the only MPS disorder where the responsible gene, HGSNAT, had not been identified. The gene encodes the enzyme heparin acetyl-CoA:α-glucosaminide N-acetyltransferase (N-acetyltransferase). N-acetyltransferase is a lysosomal membrane protein whose function is to acetylate the terminal α-glucosamine residue of intra-lysosomal heparin or heparan sulfate, converting it into a substrate for another lysosomal enzyme, α-N-acetyl glucosaminidase. Therefore, N-acetyltransferase catalyzes the only synthetic reaction known to occur in the lysosome. To do this the enzyme uses a cofactor, acetyl-coenzyme A, in the cell’s cytosolic. Thus, its substrate and co-factor are separated by the lysosomal membrane. The mechanism by which it overcomes this spatial problem is controversial.

The gene defective in MPS IIIC had previously been mapped genetically to the central region of chromosome 8. In an ongoing proteomics study of mouse lysosomal membrane proteins we identified an unknown protein whose human homolog mapped to this same region in chromosome 8. A full length mouse cDNA “Image” clone, but no full length human cDNA was available. When human MPS IIIC cells were transfected with the mouse cDNA clone, the enzymatic defect characteristic of MPS IIIC was corrected. The mouse sequence was then used to identify the correct human sequence, allowing us to construct a full length human cDNA. The structure of the gene, renamed HGSNAT, was established from the nucleotide sequence of this cDNA and the UCSC Genome Bioinformatics databases. We developed PCR primers that can amplify all of its 18 exon and exon-intron junctions making mutational analyses possible. The amino acid sequence of human N-acetyltransferase (deduced from the cDNA) predicts a 635 amino acid protein with 11 protein-domains that span the lysosomal membrane. Although database searches identified a sequence similar to that of human N-acetyltransferase in many other species (other N-acetyltransferases), there are no such similarities to proteins with other previously identified functions. Thus, the HGSNAT-encoded N-acetyltransferase represents the human member of a new protein-family of integral membrane enzymes.

Using the above primers, genomic DNA and cDNA from fibroblasts cells established from two unrelated MPS IIIC patients, were analyzed for HGSNAT mutations. Mutational analyses identified a splice junction mutation, which accounted for three mutant alleles, and a single base pair insertion accounting for the fourth.

Recent approvals for Enzyme Replacement Therapy.

The recent announcement by Shire Human Genetic Therapies on the FDA's approval for Elaprase to treat Hunter Syndrome (MPS II) is the latest in recent approvals for ERT.

Genzyme Therapeutics received European approval for Myozyme (alglucosidase alfa) in March 2006, followed by FDA approval in April, for use in patients with Pompe disease (alfa glucosidase deficiency; Glycogen Storage Disease type II)

BioMarin Pharmaceuticals received approval for Naglazyme (galsulfase) for Maroteaux Lamy Syndrome (MPS VI) in The European Union in January 2006, following FDA approval in May 2005


Congratulations to NPDG-UK

Congratulations to the Niemann-Pick Disease Group UK who were runners-up in the category of "Patient Association of the Year" at the Communique Awards, 2006. Jackie Imrie, Clinical Nurse Specialist, and Toni Mathieson, Development Manager for the group received their award at a dinner at the Grosvenor House Hotel, London, on July 13th. Jackie said "We're delighted with this award, recognising the work of the Niemann-Pick Disease Group UK. We were being judged against very big national charities, and it's a tribute to all those in the group that we have done so well."


New Patient Organisation.

A new patient organisation, Alliance Sanfilippo, is an organisation of parents committed to accelerating the pace of biomedical research in MPSIII. For more information, visit Alliance Sanfilippo or email



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