PREIMPLANTATION GENETIC DIAGNOSIS (PGD)

Important Info: Although it is a private center information, explains very well the technique, in layman's language ,I do not try in any way publicize the medical center.

PREIMPLANTATION GENETIC DIAGNOSIS (PGD) Patient Information

Some couples are at risk of transmitting an inherited disease to their children. One of the couple may be affected by this disease, or they each may carry a mutation, which if both were inherited by a child would cause the disease. Preimplantation genetic diagnosis (PGD) is a way of detecting a specific disease-causing genetic mutation within an embryo before it is transferred to the womb and forms a pregnancy.

Rare diseases, orphan drugs and their regulation: questions and misconceptions

Nature Reviews Drug Discovery 9, 921-929 (December 2010) | doi:10.1038/nrd3275

Erik Tambuyzer

Sustained advocacy efforts driven by patients' organizations to make rare diseases a health priority have led to regulatory and economic incentives for .....

Iron-dependent functions of mitochondria-relation to neurodegeneration.

J Neural Transm. 2010 Dec 15.
Gille G, Reichmann H.
Klinik und Poliklinik für Neurologie, TU Dresden, Fetscherstr. 74, 01307, Dresden, Germany

Keywords: neurodegenerative diseases, iron dyshomeostasis, mitochondrial dysfunction, physiological role of iron in mitochondria, Friedreich ataxia (FRDA),idiopathic Parkinson disease (PD), respiratory chain, iron-sulphur clusters, cytochromes, aconitase, frataxin gene, frataxin, reactive oxygen species.

Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.

Eur Heart J. 2010 Dec 14. [Epub ahead of print]

Raman SV, Phatak K, Hoyle JC, Pennell ML, McCarthy B, Tran T, Prior TW, Olesik JW, Lutton A, Rankin C, Kissel JT, Al-Dahhak R.
The Ohio State University, 473 W. 12th Ave, Suite 200, Columbus, OH 43210, USA.

Keywords: Cardiomyopathy, Friedreich ataxia (FA), fibrosis, cardiac magnetic resonance with adenosine, precontrast imaging, myocardial iron estimation, myocardial perfusion reserve index (MPRI), left ventricular (LV) mass, left ventricular ejection fraction.

Connecting Variability in Global Transcription Rate to Mitochondrial Variability

PLOS Biology, Dec 14, 2010 (publication date)

Ricardo Pires das Neves1,2,3, Nick S. Jones4, Lorena Andreu1, Rajeev Gupta1, Tariq Enver1, Francisco J. Iborra1,5*

1 Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom, 2 Biocant Center of Innovation and Biotechnology, Cantanhede, Portugal, 3 Center for Neuroscience and Cell Biology University of Coimbra, Coimbra, Portugal, 4 Department of Physics and Biochemistry, Oxford Centre for Integrative Systems Biology, CABDyN Complexity Centre, Oxford, United Kingdom, 5 Department of Molecular and Cellular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas, Madrid, Spain

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A Decrementing Form of Plasticity Apparent in Cerebellar Learning

The Journal of Neuroscience, December 15, 2010, 30(50):16993-17003; doi:10.1523/JNEUROSCI.2455-10.2010

Tatsuya Ohyama,1 Horatiu Voicu,3 Brian Kalmbach,1 and Michael D. Mauk1,2

1Center for Learning and Memory and 2Section of Neurobiology, The University of Texas at Austin, Austin, Texas 78712-0805, and 3Department of Neurobiology and Anatomy, The University of Texas-Houston Health Science Center, Houston, Texas 77030

" These results demonstrate the utility of eyelid conditioning as a means to identify and characterize the rules that govern input to output transformations in the cerebellum."

The value of Arabidopsis research in understanding human disease states.

Curr Opin Biotechnol. 2010 Dec 6.

Xu XM, Møller SG.
Centre for Organelle Research, Faculty of Science and Technology, University of Stavanger, Norway.

Keywords: Arabidopsis thaliana, understand molecular mechanisms, human disease, neurodegenerative disorders, Alzheimer's, Parkinson's, Friedreich Ataxia.

Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function

Mitochondrion, Article in Press, Accepted Manuscript, doi:10.1016/j.mito.2010.12.003

Mary A. Selak a, Elise Lyver b, Elizabeth Micklow b, Eric C. Deutsch c, Ozlem Onder d, Nur Selamoglu d, Claire Yager a, Simon Knight b, Martin Carroll b, Fevzi Daldal d, Andrew Dancis b, David R. Lynch c and Jean-Emmanuel Sarry b,

a Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
b Division of Hematology/Oncology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
c Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, and Children's Hospital of Philadelphia, Philadelphia, PA, USA
d Department of Biology, University of Pennsylvania, Philadelphia, PA, USA

KEYWORDS: Friedreich ataxia (FRDA), frataxin, neurons, cardiomyocytes, platelets, peripheral blood mononuclear cells, mitochondria, biomarkers.

Restless legs syndrome in Friedreich ataxia: A polysomnographic study

Movement Disorders, n/a. doi: 10.1002/mds.22769 (Early View (Articles online in advance of print)
Frauscher, B., Hering, S., Högl, B., Gschliesser, V., Ulmer, H., Poewe, W. and Boesch, S. M.

Keywords: sleep disturbance, restless legs syndrome, Friedreich ataxia, Frataxin, ferritin, periodic leg movements, polysomnography.

US reviews human trial participant protections

The Lancet, Volume 376, Issue 9757, Pages 1975 - 1976, 11 December 2010, doi:10.1016/S0140-6736(10)62247-7

Nellie Bristol

Commission Chair Amy Gutmann, President of the University of Pennsylvania stated. “We have an ethical obligation to protect the health and well-being of all research participants.”