Saturday, February 19, 2011

Transition to adult care for children with chronic neurological disorders

Annals of Neurology, 2011, DOI: 10.1002/ana.22393

Peter Camfield MD, Carol Camfield MD

"We make a series of suggestions about how to improve the transition/transfer process with the hope of better medical and social adult outcome for children with neurological disorders."

Friday, February 18, 2011

Quantification of Circulating Plasma DNA in Friedreich's Ataxia and Spinocerebellar Ataxia Types 2 and 12

DNA and Cell Biology. null, Vol. 0, No. 0, Online Ahead of Print: February 17, 2011. doi:10.1089/dna.2010.1165.

Vishnu Swarup, Achal K. Srivastava, Madakasira V. Padma, Moganty R. Rajeswari.
Department of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Keywords: DNA triplet repeat expansion, Friedreich's ataxia, spinocerebellar ataxias (SCAs), multisystem neurodegenerative disorders, Cell-free circulating DNA in plasma, clinical diagnosis, International Co-operative Ataxia Rating Scale, plasma DNA, PicoGreen fluorescent assay, neuronal and muscular degeneration.

Friday, February 11, 2011

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

Journal of the Neurological Sciences, doi:10.1016/j.jns.2011.01.010

Arnulf H. Koeppen

VA Medical Center, 113 Holland Ave, and Albany Medical College, 47 New Scotland Ave, Albany, NY 12208 USA, Available online 10 February 2011.

Keywords: Cardiomyopathy; Dentate nucleus; Dorsal root ganglion; Frataxin; Friedreich's ataxia; GAA trinucleotide repeats; Iron; Transcription

Tuesday, February 8, 2011

Gene therapy finds its niche

Nature Biotechnology Volume: 29, Pages: 121–128 Year published:(2011)
doi:10.1038/nbt.1769

Cormac Sheridan

Gene therapy is finally poised to make a contribution to the treatment of debilitating, highly penetrant genetic diseases that have proved intractable to other regimens.

ReNeuron and StemCells get green light for neural stem cell trials

Nature Biotechnology Volume: 29,Pages: 95–97 Year published:(2011) doi:10.1038/nbt0211-95

George S Mack

Maybe not as fast as we would like, but progress is being made in stem cell therapies for neurological diseases.

Thursday, February 3, 2011

Gene Therapy Moves Forward in 2010

Molecular Therapy (2011) 19 2, 219–220. doi:10.1038/mt.2010.307

Seppo Ylä-Herttuala
Deputy Editor, and President (2011–2012), European Society of Gene and Cell Therapy


Good summary of recent advances in gene therapy, lists of the most important achievements in this field of knowledge over the past year and shows the growing interest of pharmaceutical companies in hereditary diseases, including many rare diseases.

Wednesday, February 2, 2011

(WO/2011/009890) USE OF AZABICYCLOALKYL DERIVATIVES OR PYRROLIDINE-2-ONE DERIVATIVES

Patent WO/2011/009890, 27.01.2011,

Aplicants: NOVARTIS AG [CH/CH]; FEUERBACH, Dominik [DE/CH]; GOMEZ-MANCILLA, Baltazar [MX/CH].

The invention concerns the use of azabicydoalkyl derivatives or pyrroiidine-2-one derivatives for the treatment, prevention or delay of progression of ataxia.

"FA, is one of the types of ataxia for which the applicants assume that this drug can be useful"

"Proof of principle", Gene therapy by allele selection in a mouse model of beta-thalassemia

J Clin Invest. 2011;121(2):623–627. doi:10.1172/JCI45377.(February 1, 2011).

Sigrid Eckardt1, N. Adrian Leu2, Ashley Yanchik2, Seigo Hatada3, Michael Kyba4 and K. John McLaughlin1,5

1Center for Molecular and Human Genetics, The Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, USA.
2University of Pennsylvania School of Veterinary Medicine, Philadelphia, Pennsylvania, USA.
3Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.
4Lillehei Heart Institute and Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
5Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, Ohio, USA.

FREE ACCESS

"genetic correction strategy without gene targeting"

"In the case of recessive diseases, MHC-homozygous, disease-free PG ES cells derived from donated oocytes from a heterozygous mother may also generate useful pluripotent cells for treatment in their affected offspring."

Tuesday, February 1, 2011

Johns Hopkins Researchers Develop Safer Way To Make Induced Pluripotent Stem Cells

Stem Cell Research News From Medical News Today, Article Date: 01 Feb 2011 - 4:00 PST

Researchers at Johns Hopkins have found a better way to create induced pluripotent stem (iPS) cells-adult cells reprogrammed with the properties of embryonic stem cells-from a small blood sample. This new method, described last week in Cell Research, avoids creating DNA changes that could lead to tumor formation. read more....

Sunday, January 30, 2011

Medtronic Announces Global Launch Of The CD HORIZON(R) SOLERA™ Spinal System

Medical News Today, Article Date: 30 Jan 2011 - 0:00 PST, Source: Spine Business, Medtronic

Continuing a stream of recent advancements for stabilization of the spine, Medtronic, Inc. (NYSE: MDT) announced both the release of its CD HORIZON® SOLERA™ Spinal System in the U.S. and a limited market release in Japan. This product launch is part of the CD HORIZON® family of fixation devices, designed to provide spinal stabilization and correction as an adjunct to fusion in patients suffering from painful and function-limiting disorders of the middle and lower back. read full text....

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