Preimplantation genetic diagnosis

Preimplantation genetic diagnosis. Pensée Wu, Margo L. Whiteford, Alan D. Cameron; Obstetrics, Gynaecology & Reproductive Medicine, Volume 24, Issue 3, March 2014, Pages 67-73, ISSN 1751-7214, http://dx.doi.org/10.1016/j.ogrm.2014.01.003.

Keywords: in vitro fertilization; preimplantation genetic diagnosis; preimplantation genetic screening.

In the case of an autosomal recessive disorder, there is a one in four chance of an affected child with carrier parents. Most couples only become aware that both partners have a pathological mutation following clinical diagnosis and genetic testing of an affected child. Common PGD indication for autosomal recessive disorder is Friedreich's ataxia.

TREATMENT OF MITOCHONDRIAL DISEASES WITH VITAMIN K

TREATMENT OF MITOCHONDRIAL DISEASES WITH VITAMIN K. JANKOWSKI ORION D, ; HINMAN ANDREW W, ; MILLER GUY M); Patent US2014031432 (A1) ― 2014-01-30

Methods of treating, preventing or suppressing symptoms associated with mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), dominant optic atrophy (DOA); mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Leigh syndrome or Kearns-Sayre Syndrome (KSS) with vitamin K are disclosed.

Los pacientes se convierten en los nuevos mecenas

Los pacientes se convierten en los nuevos mecenas. David Guerrero, EL MUNDO,28/02/2014

Patients are the new patrons

Patients are the new patrons. IRB Barcelona in the media, 25 February 2014.

The Innovadores supplement of today’s El Mundo reports on the funding that Ernest Giralt’s group has received from Genefa, the association of patients with Friedreich's ataxia, to study this rare disease. The report explains how patients and scientists have come together to undertake a new scientific project.

Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)

Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). ClinicalTrials.gov Identifier: NCT02069509

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years

Oral-Diadochokinesis Rates across Languages: English and Hebrew Norms

Oral-Diadochokinesis Rates across Languages: English and Hebrew Norms. Michal Icht, Boaz M. Ben-David; Journal of Communication Disorders, Available online 23 February 2014. http://dx.doi.org/10.1016/j.jcomdis.2014.02.002

Oral-Diadochokinesis has been used to evaluate the presence and severity of neurological impairments. Inaccurate, inconsistent or an abnormal oral-DDK performance might indicate disorders of the central nervous system or peripheral sensory motor functions.

Spinocerebellar ataxia, Parkinson’s disease and Friedreich’s ataxia (both presenting orofacial motor impairments,were characterized with reduced Oral-Diadochokinesis scores.

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models . Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A. Pook; PLoS ONE 9(2): e89488. doi:10.1371/journal.pone.0089488

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Genomic Instability in Pluripotent Stem Cells: Implications for Clinical Applications

Genomic Instability in Pluripotent Stem Cells: Implications for Clinical Applications. Suzanne E. Peterson and Jeanne F. Loring; The Journal of Biological Chemistry, 289, 4578-4584. 10.1074/jbc.R113.516419 February 21, 2014

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There are several examples of dramatic genomic changes that appear when cells are reprogrammed. Studies of some trinucleotide repeat diseases have reported changes in the repeat length following reprogramming. Specifically, in Friedreich ataxia, the GAA/TTC triplet repeat length in the FXN (frataxin) gene appeared to change following reprogramming of patient fibroblasts

Although the probability of an FDA-approved hPSC-derived cell therapy causing harm to a patient appears to be low, the consequences of adverse events are enormous. There is an important lesson from the failures in early gene therapy trials. If even one patient is harmed in an FDA-approved trial using hPSC derivatives, all further trials will be in serious jeopardy, and the promise of stem cell therapy will be put on indefinite hold.

The Neuroprotective Role of Acupuncture and Activation of the BDNF Signaling Pathway

The Neuroprotective Role of Acupuncture and Activation of the BDNF Signaling Pathway. Lin, Dong; De La Pena, Ike; Lin, Lili; Zhou, Shu-Feng; Borlongan, Cesar V.; Cao, Chuanhai; International Journal of Molecular Sciences. 2014; 15(2):3234-3252.

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Global Identification of Genes Affecting Iron-Sulfur Cluster Biogenesis and Iron Homeostasis

Global Identification of Genes Affecting Iron-Sulfur Cluster Biogenesis and Iron Homeostasis . Ryota Hidese, Hisaaki Mihara, Tatsuo Kurihara and Nobuyoshi Esaki; J. Bacteriol. March 2014 vol. 196 no. 6 1238-1249; Published ahead of print 10 January 2014, doi: 10.1128/JB.01160-13