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#3088 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Sat Aug 1, 2009 11:03 am
Subject: ESP: Luces y sombras, el blog de Mari Carmen Garca
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Viernes 31 de julio de 2009

 

Mari Carmen Garca (Aranzueque, 1965) es una luchadora nata. Hace unos meses, publicaba su primer libro, Fotos de un adis, la emotiva historia de una mujer que sufre la misma enfermedad que ella, ataxia de Friedreich. Ahora, tiene otros proyectos en cartera.

 

 

Enlace: http://lucesysombrasataxiadefriedreich.blogspot.com/2009/07/en-mi-salsa.html

 

 

 

#3087 From: cannynick
Date: Fri Jul 31, 2009 7:33 pm
Subject: ENG: The Hindsight Years Webisode #3: Elaine Willis
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The third installment of The Hindsight Years is now available for viewing:
http://www.youtube.com/watch?v=iiG2zPe0LZE&feature=PlayList&p=4BD31AA7A6961648&index=0&playnext=1 

Elaine Willis is a woman with an unidentified SCA who has chosen to be a very active participant in her community, and has profound effects on the lives of those around her.

The video tells of how, at one point, she was severely disabled; "unable to feed herself or sit up alone". Then we see her walking around, with minimal signs of advance Ataxia. A few years ago, she stumbled across a headache medicine, Topomax, which nearly reversed all of her symptoms.

We made a very difficult choice to not discuss this in the video, as it may cause a hysteria. We also wanted to avoid allowing Topomax to overshadow the subject. It wasn't our desire to make a commercial for the drug companies.

Any questions can be sent to me, or posted as comments below the YouTube video. Elaine can then field the questions directly.

Previous Webisodes
Debra ter Borg, diagnosed at 30 with FA
http://www.youtube.com/watch?v=AnV-bBC1TK8&feature=PlayList&p=2C844D9CD14CFB40&index=0&playnext=1 

Michael Geilen, currently undiagnosed
http://www.youtube.com/watch?v=66zvuNhOp3k&feature=PlayList&p=DACBAF4E94121124&index=0&playnext=1 

Supporting The Hindsight Years
These webisodes are free and available to anyone who wants to learn about living with Ataxia. I will NEVER charge people to view the installments. I believe that this kind of information should be accessible to anyone who needs it, regardless of financial condition. That's just the socialist in me.

This does cost us in travel expenses (fuel), equipment and time. We don't insist that you donate to this cause, but if you support it and can afford it, please go here:

http://www.givemeaning.com/project/panasonicdvx 

We appreciate all donations.

If you support the cause, but can't afford a donation, please log into YouTube (create an account first!) and leave your comments! Let's show the world that we are a community!

Target Audience
There has been some question as to the Target Audience of The Hindsight Years. The main goal is to expose these videos to those Ataxians who are recently diagnosed.

This group of people has often spent a few years in darkness, trying to understand and make sense of their worsening co-ordination. They need an explanation, so that they can find a solution.

But the diagnosis doesn't give a solution. Instead, they learn that the condition is not only incurable, but it will also get worse.

Many may feel a loss of hope and succumb to depression. The goal of these videos is to show that Ataxia does not mean that your life is over. On the contrary, with acceptance of the condition, you can live fuller, and accomplish more than most able bodied people!

Pre-Audience
Before a webisode goes public, we have a select group of people critique the content for errors, questionable statements, poor facts and general opinions. If you'd like to be a part of the Pre-Audience, please log into YouTube, invite us as a friend, and drop us a message that you'd like to participate.

We have the fourth webisode nearly complete. It focuses on a 30 year old lady from Brazil with Friedreich's Ataxia. Most of the video takes place in Teresina, Brazil. Before it goes public in September, we'll be asking for reviews.


#3086 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Fri Jul 31, 2009 6:56 pm
Subject: ESP: Un equipo chino crea ratones a partir de células madre adultas reprogramadas
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Un equipo chino crea ratones a partir de células madre adultas reprogramadas

 

Viernes 31 de Julio de 2009 15:53

 

Un equipo científico chino logró crear ratones, que incluso pudieron procrear, a partir de células madre resultantes de una reprogramación de células adultas, según el resultado de la investigación publicado por la revista científica británica Nature. Es la primera prueba definitiva de que las células iPS son realmente pluripotentes.

 

Leer más:

http://www.babelfamily.org/es/ultimas-noticias/302-un-equipo-chino-crea-ratones-a-partir-de-celulas-madre-adultas-reprogramadas

 

 

 

 

Website: www.babelfamily.org  

Visit forum

 E-mail: coordination@...  

 

BABELFAMILY

The international project to defeat Friedreich's ataxia
El proyecto internacional contra la ataxia de Friedreich
Le projet international contre l'ataxie de Friedreich
Das internationale Projekt gegen die Friedreich'sche Ataxie
Международный проект против атаксии Фридрейха
Il progetto internazionale contro l'atassia di Friedreich
O projecto internacional contra a ataxia de Friedreich
Internationella projekt för att besegra Friedreichs Ataxi
Friedreich’s ataksisini yenmek için uluslar arası proje

المشروع الدولي لمكافحة فريدريك أتاكسيا

 

 

 

 

 

 

#3085 From: "Gian Piero Sommaruga" <gippi@...>
Date: Fri Jul 31, 2009 9:15 am
Subject: ENG: From Molecular Physiology To Therapeutic Applications Of Stem Cells
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From Molecular Physiology To Therapeutic Applications Of Stem Cells

Article Date: 30 Jul 2009 - 4:00 PDT

 

Stem cell research promises remedies to many devastating diseases that are currently incurable, ranging from diabetes and Parkinson's disease to paralysis. Totipotent embryonic stem cells have great potential for generating a wide range of different human cells that can be used to restore malfunctioning or damaged cells and tissues in patients. Recent studies have shown that pluripotent stem cells derived from adult bone marrow, the umbilical cord and the placenta could also be induced to differentiate into a variety of different tissues. In this issue, we have invited several scientists in China to summarize their pioneering works in the stem cell research field.

 

Source/read more: http://www.medicalnewstoday.com/articles/159333.php

 

 


#3084 From: "Gian Piero Sommaruga" <gippi@...>
Date: Fri Jul 31, 2009 8:05 am
Subject: ITA: Staminali. Creati topi da cellule adulte riprogrammate
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ASIA CINA

Staminali. Creati topi da cellule adulte riprogrammate

 

24 Luglio 2009

 

Sono stati creati i primi topolini a partire da normali cellule adulte riprogrammate e riportate allo stadio di cellule 'bambine', staminali. Uno dei topi, divenuto adulto, come un topolino qualunque, si e' riprodotto ingravidando una topolina e facendo cuccioli sani.
Annunciato in contemporanea dalle riviste Nature e Cell Stem Cell, 'si tratta di un grande risultato scientifico che prova definitivamente che le 'staminali etiche', ottenute riprogrammando cellule adulte e senza il sacrificio di embrioni, sono staminali embrionali a tutti gli effetti che potrebbero un giorno essere usate per terapie su misura di paziente', commenta la notizia il preside della Facolta' di Medicina dell'Universita' di Tor Vergata di Roma Giuseppe Novelli.
Il traguardo si deve a Fanyi Zeng dell'Universita' di Shanghai Jiao Tong e Shaorong Gao del National Institute of Biological Sciences di Pechino. Il primo nato della cucciolata e' stato battezzato 'Xiao Xiao', Piccolo.
Il 'lieto evento' e' importante, dunque, perche' offre la prova regina del fatto che le cellule staminali ottenute a partire da normalissime cellule adulte del corpo, per esempio cellule prese da un lembo di pelle, sono identiche a cellule embrionali: sono totipotenti e possono 'ricostruire' qualunque parte del corpo. Potenzialmente, dunque, ciascuno di noi potrebbe, con un campione di cellule della propria pelle, ottenere una riserva personale di staminali embrionali da usare per riparare organi e tessuti danniggiati del proprio corpo.
E' solo dello scorso anno l'annuncio che con cellule di pelle umana sono state create staminali (battezzate cellule staminali pluripotenti 'indotte' - IPS), in pratica riportando indietro la lancetta del tempo delle cellule adulte umane. Per la riprogrammazione basta inserire nel Dna delle cellule adulte, attraverso dei virus vettori, 4 geni (Oct4, Sox2, c-Myc e Klf4): questi da soli riescono a fare la 'magia' e a ritrasformare le cellule adulte in cellule staminali capaci di generare qualunque altra cellula adulta del corpo (neuroni, cellule muscolari, cellule del sangue etc). Cio' segno' l'inizio di una nuova via verso terapie su misura, per di piu' eticamente accettabile perche' non prevede l'utilizzo di embrioni per ottenere le staminali. Si parlo' dunque di 'staminali etiche', ma mancava la vera prova della totale identita' tra cellule embrionali e cellule IPS, spiega Novelli.
'Questa prova si ottiene solo con l'esperimento eseguito dai ricercatori cinesi - spiega - la 'complementazione tetraploide' che consiste nel creare un animale sano a partire da cellule IPS'.
I ricercatori hanno prima creato varie linee di cellule IPS usando cellule adulte di topo, spiega Novelli, poi hanno preso una cellula embrionale e l'hanno fusa con una IPS ottenendo una cellula con due nuclei (da qui 'tetraploide'). 'Questa cellula, moltiplicandosi, forma la placenta - spiega Novelli; gli scienziati hanno inoculato cellule IPS in questo abbozzo di placenta e dato vita a embrioni interamente formati da cellule IPS'. Alcuni di questi embrioni si sono sviluppati e ne sono nati dei topolini di fatto identici ai topi da cui erano stati prese le cellule per creare le cellule IPS. E' una specie di clonazione, pero', avverte Novelli, 'questo esperimento non e' fatto per clonare (peraltro e' troppo complesso e sarebbe inutile clonare un animale in questa maniera) ma solo per dimostrare la totale identita' tra cellule staminali IPS e cellule embrionali'.

 

Fonte: http://www.aduc.it/dyn/salute/noti.php?id=267007


#3083 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Thu Jul 30, 2009 4:54 pm
Subject: ENG: Ride Ataxia Philadelphia, October 25th 2009
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#3082 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Wed Jul 29, 2009 10:24 pm
Subject: FRA: Projet du film sur Claude St-Jean, les ataxies hrditaires et l'ACAF
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projet de film
PROJET DU FILM SUR CLAUDE ST-JEAN, LES ATAXIES HRDITAIRES ET LACAF

VOTRE COLLABORATION EST DEMANDE


lACAF nous projetons de participer la ralisation prochaine dun film relatant la vie extraordinaire de Claude St-Jean.

Si vous avez connu Claude St-Jean ou avez des tmoignages personnels livrer, des lettres, des images, des films tmoignant de sa vie et de son uvre, lACAF vous invite contribuer maintenant ce projet de film en nous contactant

                           par courriel ataxie@... Cet e-mail est protg contre les robots collecteurs de mails, votre navigateur doit accepter le Javascript pour le voir


                          
par la poste ACAF - Fondation Claude St-Jean
                                                  3800, rue Radisson, bureau 110
                                                  Montral (Qubec) H1M 1X6

                           ou par tlphone au 514-321-8684

Votre tmoignage personnel permettra de perptuer la mmoire de ce personnage hors du commun qui a fait natre lespoir chez des milliers de Qubcois et incarn pour plusieurs limage mme du hros .

 

 

(Source : http://www.lacaf.org/index.php?option=com_content&task=blogcategory&id=24&Itemid=43)

 

 

 

 

En 1972, Claude St-Jean, suite une valuation de ses symptmes est condamn mort. Il ne l'accepte pas et en rponse ce diagnostic dcide de mettre sur pied un comit scientifique afin d'amorcer des recherches mdicales sur sa maladie que l'on nommait ataxie de Friedreich . cette poque, les mdecins ne connaissaient presque rien de cette maladie et leur intrt pour la recherche tait inexistant.

La mme anne, Claude fonde l'Association Canadienne de l'Ataxie de Friedreich pour s'assurer du financement des ventuelles recherches mdicales

En 2003, l'organisme change son nom pour l'Association Canadienne des Ataxies Familiales - Fondation Claude St-Jean, suite la dcouverte de nombreuses autres formes d'ataxies hrditaires. Il fut alors dcid de regrouper toutes les personnes atteintes d'une ataxie hrditaire (forme identifie ou non) et d'tendre les recherches mdicales en les y incluant. Claude St-Jean s'teint le 13 juin 2006 au Centre Notre-Dame de la Merci l'ge de 54 ans o il tait hospitalis depuis trois ans.

 

 

(Source :http://www.lacaf.org/index.php?option=com_content&task=blogcategory&id=13&Itemid=30)

 

 

#3081 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Wed Jul 29, 2009 6:44 pm
Subject: ENG: CAFA - Claude St-Jean Foundation - The Walk to Fight Friedreich's Ataxia, Whitby, September 26th 2009
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The CAFA Claude St-Jean Foundation invites you to The Walk to Fight Friedreichs Ataxia .

This fundraising event will take place in the Town of Whitby (east of Toronto) September 26th 2009 10:00 am to 1:00 pm.

 

For more information : http://thewalktofightfa.com

 

 

 

 

 

 

 

Source: CAFA (Canadian Association for Familial Ataxias) - Claude St-Jean Foundation

http://www.lacaf.org/index.php?option=com_frontpage&Itemid=1&lang=english)

 



#3080 From: "Gian Piero Sommaruga \(babelFAmily\)" <gianpiero.sommaruga@...>
Date: Wed Jul 29, 2009 6:31 am
Subject: ENG: Solar Electric Flight in search of Spanish sun for charity expedition!
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Solar Electric Flight in search of Spanish sun for charity expedition!

 

Tuesday 28 July 2009, Barcelona: Almost a week ago, a team of intrepid pilots embarked on an exciting new adventure to raise funds for Ataxia medical research and promote alternative energy as a power source of the future. Now entering its second leg, having crossed the Pyrenees, the Incredible Solar Electric Flight will be taking to the skies along Spains southern coastline.

Starting from Monte-Carlo and covering an estimated 2000km, the Incredible Solar Electric Flight aims to achieve the worlds longest solar-powered flight, demonstrating the latest combination in solar energy, battery power and paramotors.

The British-based team, sponsored by Smart Solar, LottyB, Hurun Report and The Week, are flying a new Electric Paramotor - the first commercial solar-powered electric flight system - to Ceuta Morocco. Covering an estimated 150km per day in favourable weather conditions, the expedition should take roughly two weeks to complete.

We have made good progress despite some difficult conditions, explains expedition organiser Damian Cardozo. Our flight across France has been exciting and eventful. The electric paramotor is performing beyond our expectations and we are particularly pleased with the efficiency of the solar panels, proving that this environmentally-friendly power source is a viable alternative.

"As a solar specialist company, this is of course an ideal type of project for us to be involved with, comments Smart Solars managing director, Jonathan Stobart, who supplied the solar panels. I am thrilled that the panels have been working so effectively during the first few days of the flight. Whilst the panels and the application is different from the main product business of Smart Solar, it fits our aims in terms of supplying a solar solution to the problem in hand."

The expedition aims to raise awareness of Ataxia; a debilitating disease that affects part of the nervous system that normally control co-ordination and balance. There are many different types of ataxia with different causes and symptoms; many are inherited. Research has shown that more than 10,000 adults in the UK have ataxia and many more children: thousands more than was previously thought. Ataxia is progressive, meaning it gets worse with time, until people become entirely dependent on others for all their needs. There is currently no cure.

We have received tremendous support from our sponsors and everyone interested in what we are doing, adds Damian. As we head into Spain we are looking forward to flying along their beautiful coastline and arriving in Ceuta.

Supporters wanting to follow the teams progress from the Riviera to North Africa will be able to watch the pilots online and get the latest expedition news at 
http://www.theincrediblewebsite.org/electricflight

 

Source: http://www.barcelonareporter.com/index.php?/news/mobile/solar_electric_flight_in_search_of_spanish_sun_for_charity_expedition/



 



#3079 From: "Gian Piero Sommaruga" <gippi@...>
Date: Tue Jul 28, 2009 4:28 pm
Subject: FRA: Le blog de Mathias Coppa
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Le blog de Mathias Coppa

 

 

Prsentation prliminaire

 

 

A ma naissance, j'tais un bb comme tous les autres, rien ne laissait prsager un handicap quelconque et jusque six ou sept ans ma croissance s'est passe tout fait normalement.
Pourtant en marchant, je trbuchais, je titubais et je me tordais les pieds plus souvent que la moyenne et c'est ce qui a amen les personnes de mon entourage se poser des questions. Finalement, aprs quelques annes avoir enchaner les consultations et examens mdicaux, le diagnostic ataxie de Friedreich a t pos.

 

 

http://mathcopp.skyrock.com/1.html

 

 


#3078 From: "Gian Piero Sommaruga" <gippi@...>
Date: Tue Jul 28, 2009 3:36 pm
Subject: ENG: Science news - Microscope Shows How Nanoferries Invade Cells
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Chasing Tiny Vehicles: Microscope Shows How Nanoferries Invade Cells

 

ScienceDaily (July 22, 2009) In future therapies, synthetic nanoparticles may well be able to ferry medicines and even genes to targets inside the body. These nanovehicles can now be directly tested and optimized using a highly sensitive microscopic method that can trace single particles all the way into a cell.

 

Nanoparticles are just billionths of a millimeter in size. Exhibiting novel and often surprising properties, they are finding their way into an endless stream of equally innovative products. In medical therapies, for example, tiny nanovehicles could one day ferry drugs or even genes into cells. So far, the only way of testing these approaches has been to wait for the desired effect to show the activation of a transported gene inside a cell for example. 

Under the direction of LMU Munich physicochemist Professor Christoph Bruchle, a research group cooperating with Dr. Christian Plank of the Technische Universitt Mnchen (TUM) has now used a highly sensitive microscopic technique to pursue individual nanoparticles as they make their way into target cells in real-time and at high spatial and temporal resolution. They tested magnetic nanoparticles that could be used, among other things, in cancer therapy. This approach should also allow a better understanding of existing nanovectors as well as the development of new systems.

Nanoparticles are so small that many barriers in the body simply can't stop them. They can also use the bloodstream to reach any part of the body. Researchers and doctors alike hope that these tiny vehicles will one day be put to work in therapies carrying drugs directly to the seat of a disease. "Even genes can be transported this way," says Plank. "That means we could be seeing new breakthroughs in gene therapy soon, which has seen more than its fair share of setbacks. After all, lacking most are functional transporters." Such vehicles or vectors have been developed mainly from viruses until now. But even deactivated viruses can sometimes trigger unwanted side-effects. Nanoferries, on the other hand, have been tailored to deliver genes or drugs directly to the target without side-effects.

 

 

Source/read more: http://www.sciencedaily.com/releases/2009/07/090720083217.htm

 


#3077 From: "Gian Piero Sommaruga \(babelFAmily\)" <gianpiero.sommaruga@...>
Date: Sun Jul 26, 2009 10:15 am
Subject: ITA: Comunicato AISA sezione ligure - Barcarolata di domenica 26 luglio
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Domenica 26 luglio la splendida cornice della Baia di Portobello a Sestri Levante, diventer come ogni anno palcoscenico sotto le stelle della suggestiva BARCAROLATA, una vera e propria sfilata di imbarcazioni sul mare ...
Anche l'AISA sezione ligure parteciper alla gara con una imbarcazione ispirata alla Vita. La scenografia rappresenta l'albero della vita, come viene rappresentato nei classici mezzeri genovesi e liberamente ispirato ad uno dipinto da Luzzati.
Saremo l per dire alle migliaia di persone presenti, che ci siamo anche noi e che lottiamo per vincere l'atassia.
Il significato sar quello della libert....del posto per tutti.
 
Inoltre avremo un banco informativo e raccolta fondi. Offriremo Paella e Sangria a favore dei progetti che AISA sostiene..
Speriamo che la giornata sia favorevole e.. il vento soffi dalla nostra parte.
 
Siete tutti invitati.
 
Lo spettacolo pirotecnico sull'acqua imperdibile!!!
Sentire le note di "We have a Dream" mentre passa la nostra barca.. da brivido.
 
Cari saluti
Maria Litani
AISA Onlus Sezione Liguria
www.atassia.it
 
 


#3076 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Sat Jul 25, 2009 10:34 pm
Subject: ENG: short film of the Ataxia UK family weekend 2009
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Ataxia UK Family days

 

Family days are smaller events, with an emphasis on talking, sharing, and having fun.

I am going to use the information and support to further improve my childs and my own life going forward, keep in touch with others and try to get more help with the information given.

The weekends include a series of talk-in sessions and on Saturday afternoon the group goes off to enjoy the selected attraction (2008 Alton Towers, 2009 Chessington World of Adventure).

 

At the link below a short film of the 2009 family day.

 

http://www.youtube.com/watch?v=qs2i_96eruM 

 

 

 

(Source: http://www.ataxia.org.uk/page.builder/familydays.html)

 

 

 

See also:  

 

http://www.youtube.com/user/AtaxiaUKonline

 


#3075 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Sat Jul 25, 2009 10:13 pm
Subject: ENG: Clinical study on HDACIs.
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Clinical study on HDACIs

 


By Guy DAnjou, M.D. FRCPC
Neurologist, Sainte-Justine Hospital


Friedreichs ataxia (FA) is one of the most frequent neurodegenerative diseases. Its clinical manifestations appear at a critical stage in the development of an individual and affect his autonomy and quality of life.

A number of years ago it was discovered that FA is among others caused by a deficit of frataxin in the cells of the heart and of the nervous system.

Until very recently there was no medication available to improve the condition of FA patients. Idebenone as well as Catena, which is its new high dose formulation, seem to cause an improvement at the neurological and cardiac levels. Two ongoing studies have yet to prove their effectiveness for all patients. Hopefully other drugs will appear on the market and contribute to ease the clinical symptoms of a maximal number of patients.

Multiple ongoing studies on inhibitors of the histone deacetylase enzyme (HDACIs) are trying to demonstrate their effectiveness in several types of cancer or neurodegenerative diseases. It seems that only a specific group of HDACIs is able to significantly increase the level of frataxin in human body cells, particularly in immature white blood cells as well as in organs singled out by Friedreichs ataxia.

At this moment one of these molecules was chosen to be a clinical candidate and should reach phase 1 before the end of the year in Europe (study of the drug: absorption, elimination, etc.) If everything goes well, phase 2 (clinical study of patients) should start somewhere in 2010.

A meeting in Europe is scheduled in July to sum up the situation on the development of this molecule. Dr Massimo Pandolfo, a world expert in Friedreichs ataxia, tells us that the principal researchers will start planning clinical trials during that meeting.

Obviously FA patients in Quebec could eventually take part in such a clinical study because the disease is so much more prevalent in Quebec and because of the experience we have acquired during these years studying neurodegenerative diseases. In this regard Dr Pandolfo has already mentioned that he will propose our clinical environment as a possible North American partner. An exciting story worth to keep an eye on!


Source: LEldorado, June 2009, p.11

Translated by Sofia Arenzon

 

Canadian Association for Familial Ataxias Claude St-Jean Foundation

http://www.lacaf.org/index.php?option=com_content&task=view&id=76&Itemid=138&lang=english

 

 

#3074 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Sat Jul 25, 2009 10:02 pm
Subject: FRA: tude clinique sur les HDACIs. Dossier excitant suivre!
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tude clinique sur les HDACIs Dossier excitant suivre!

 


Par Guy DAnjou, M.D., FRCPC
Neurologue pdiatrique
CHU Sainte-Justine
Responsable mdical Programme MNM
Centre de radaptation Marie-Enfant


Lataxie de Friedreich (AF) est une des maladies neurodgnratives les plus frquentes et ses manifestations cliniques apparaissent une tape cruciale dans le dveloppement dun individu affectant alors son autonomie et sa qualit de vie.

On sait depuis plusieurs annes que lAF rsulte entres autres dun dficit en frataxine dans les cellules du systme nerveux et du cur.

Jusqu tout rcemment, il nexistait aucun traitement mdicamenteux sur le march pour amliorer la condition des patients atteints dAF. LIdbnone et sa nouvelle formulation plus haute dose, Catena, semblent dmontrer une amlioration sur les plans neurologique et cardiaque. Son efficacit pour lensemble des patients souffrant de lAF reste dmonter par, entres autres, deux grandes tudes actuellement en cours. Il est cependant souhaitable que dautres mdicaments puissent arriver sur le march et contribuer attnuer les manifestations cliniques chez le plus de patients possible.

Plusieurs tudes sur les inhibiteurs de lenzyme histone deacetylase ( HDACIs) sont actuellement en cours pour tenter de dmontrer leur efficacit dans plusieurs types de cancers ou de maladies neurodgnratives. Il semble que seulement un groupe spcifique de HDACIs est capable daugmenter significativement le niveau de frataxine dans les cellules du corps humain, en particulier dans les globules blancs immatures et dans les organes cibles de lataxie de Friedreich.

Actuellement, une de ces molcules a t choisie comme candidat clinique et devrait arriver en phase 1 avant la fin de lanne en Europe (tude du mdicament proprement dit: absorption, limination, etc.). Si tout va bien, la phase 2 (tude clinique chez les patients) pourrait dbuter au cours de lanne 2010.

Une runion pour faire le point sur ltat du dveloppement de cette molcule est prvue est Europe en juillet prochain. Le docteur Massimo Pandolfo, expert mondial dans lataxie de Friedreich, nous informe que, lors de cette runion, les chercheurs principaux devraient commencer planifier les essais cliniques.

Il est clair que les patients AF du Qubec pourraient ventuellement participer une telle tude clinique en raison de la plus forte prvalence de la maladie au Qubec et aussi de lexprience que nous avons acquise au cours des dernires annes en recherche sur plusieurs maladies neurodgnratives.
Dans ce contexte, Dr Pandolfo ma dj mentionn quil proposerait notre milieu clinique comme possible partenaire nord amricain. Un dossier excitant suivre !


Source: L'Eldorado, Juin 2009, p.11

 

Association Canadienne des Ataxies Familiales - Fondation Claude St-Jean

 

http://www.lacaf.org/index.php?option=com_content&task=view&id=76&Itemid=138

 

 

#3073 From: "Stephane LION" <Steph.LION.41@...>
Date: Sat Jul 25, 2009 12:56 pm
Subject: ESP: Articulo "S.O.S. El recurso de Stphane" Le Petit Solognot 22/07/09
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De: Roger Smery
Publicado en: Le Petit Solognot
: 22 de julio de 2009

	 Stphane LION, de 43 aos de edad, un padre con tres hijos, sufre de ataxia
cerebelosa SCA2 es una condicin gentica conocida como dominante de
transmisin. La ataxia es un trastorno significa enfermedad neuromuscular que es
una multa la falta de coordinacin de los movimientos voluntarios.
	 Disfunciones se han encontrado en la edad de 38 aos, hay cinco aos: la
prdida de equilibrio en los resultados esguince, cada, la bsqueda de un
discurso lento, proceso de tropiezo, un problema de deglucin. Enfermedad que
evoluciona en una progresin debilitantes.
	 Stphane ha sido sometido a diversos exmenes en Blois, Tours Bretonneau en el
hospital de La Salptrire, en Pars. Despus de confirmado el diagnstico, los
dos ltimos hospitales dijeron: "No es, por desgracia, no tiene cura hasta la
fecha y la evolucin ser lenta a un progresivo empeoramiento de los sntomas.
Por supuesto, debemos seguir kinsithrapique la rehabilitacin del equilibrio y
del habla. "
	 Stphane visto un aumento progresivo ms rpido de lo previsto: los trastornos
de la marcha y el equilibrio, la utilizacin de la caa de azcar y despus de
caminar 50 metros en silla de ruedas a causa de la necesidad de cansancio
permanente, problemas de coordinacin cuatro miembros, lo que resulta en la
deglucin de alimentos mal, desde el discurso. Se lleva a cabo dos sesiones de
fisioterapia y terapia del habla por semana que son beneficiosas.
	 Tuvo que abandonar su vida de lder de TI con sus compromisos como Presidente
de la Asociacin Cvica Barrio Romo Oriente (su enfoque y su discurso fue
recibido en la direccin equivocada) valientemente enfrenta la enfermedad con la
Ayuda reconfortante de su esposa.
	 l percibe el subsidio de discapacidad para adultos (AAH) 666,96  uros y el
aumento de la vida independiente (MVA) 104,77  uros, la ayuda al mes para una
familia de cinco.
	 No hace mucho tiempo, a finales de marzo de 2009, una puerta de esperanza de
presentacin: ser tratado en Holgun, una ciudad de 360 000 habitantes, Cuba. De
hecho, el nmero de pacientes con esta enfermedad es importante en esta isla.
Chanfran el Dr. Jorge Rodrguez, director adjunto del CIDEM (Centro de
Investigacin y Desarrollo de Medicamentos) y Luis Velzquez Prez, director del
CIRAH (Centro de Investigacin y Rehabilitacin de las Ataxias hereditarias) han
avanzado en su labor de investigacin y proporcion algunos progresos .
	 Stphane se aferra a esta placa, pero el rescate de los costes superiores a su
capacidad: 2 300  para la atencin y 2 500  para gastos de viaje y alojamiento
necesarios 15 das de asistencia.
Stphane expres un cierto cansancio con la ardua frente a la administracin.
	 Porque tambin hay otras preocupaciones, como la elaboracin de su cuarto de
bao para poner una ducha de suelo (en italiano), y tambin trabaj para que el
seguro de crdito no vlida hbitat.
	 La administracin, es buena para los ciudadanos, sobre todo cuando ste es ms
reducida por la enfermedad? Continuar su camino de la vida sin ayuda alguna a la
que tienen derecho, porque es complicado. Sin embargo, cuntos de socorro y
consejera sera beneficioso.
	 Stphane ha creado una asociacin para poder optar a determinadas subvenciones
que no puede pasar que a travs de la asociacin.
Un traitement pour Stphane **
5 rue de Gy
41200  ROMORANTIN
FRANCE
Tl : (33)9 51 74 58 15

** (Tratamiento para Stphane)

#3072 From: "Stephane LION" <Steph.LION.41@...>
Date: Sat Jul 25, 2009 1:00 pm
Subject: ENG: "S.O.S. An appeal of Stphane" LePetitSolognot 22/07/09
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From: Roger Smery
Published in: Le Petit Solognot
: 22 July 2009

	 Stphane LION, aged 43, a father with three children, suffers from cerebellar
ataxia SCA2 is a genetic condition known as dominant transmission. Ataxia means
disorder is a neuromuscular disease which is a fine lack of coordination of
voluntary movements.
	 Dysfunctions were found at the age of 38 years, there are five years: loss of
balance results in sprain, fall, finding a speech slow, stumbling process, a
problem swallowing. Disease that evolves into a debilitating progression.
	 Stphane has undergone various reviews in Blois, Tours Bretonneau in the
hospital in La Salptrire in Paris. After confirmed diagnosis, the latter two
hospitals said: "There is unfortunately no cure to date and the evolution will
be to a slowly progressive worsening of symptoms. We must of course continue
kinsithrapique rehabilitation of balance and speech. "
	 Stphane saw a progressive increase faster than expected: disorders of gait and
balance, use of cane and after 50m walk need wheelchair because of fatigue of
standing, problems with coordination four members, resulting in swallowing food
wrong, from the speech. It conducts two sessions of physiotherapy and speech
therapy per week that are beneficial.
	 He had to leave his life of leading IT company with its commitments as
President of Civic Association Neighborhood Romo East (his approach and his
speech was received in the wrong direction) courageously confronts the disease
with the Help comforting his wife.
	 He perceives the adult disability allowance (AAH) 666.96  uros and increase
for independent living (MVA) 104.77  uros, aid per month for a family of five.
	 Not long ago, in late March 2009, a door of hope opened: be treated in Holguin,
a city of 360 000 inhabitants, Cuba. Indeed, the number of patients with this
disease is important in this island. Dr. Jorge Rodriguez Chanfran, deputy
director of the CIDEM (Center of Research and Development of Medicines) and Luis
Perez Velazquez, director of CIRAH (Center for Research and Rehabilitation of
hereditary ataxias) have advanced in their research and provided some progress .
	 Stphane clings to this board but the rescue costs exceed its capacity: 2 300 
for the care and 2 500  for travel and accommodation required 15 days of
attendance.
	 Stphane expressed a certain weariness with the arduous vis--vis the
administration.
Because there are also other concerns, such as the development of his bathroom
to put a shower of soil (in Italian), and also worked to make the insurance
invalid credit habitat.
	 The administration, is it good for citizens, especially when the latter is more
diminished by the disease? Continue its path of life without some aid to which
they are entitled because it is complicated. Yet, how many relief and counseling
would be beneficial.
	 Stphane has just created an association to qualify for certain grants that can
not pass that through the association.
Un traitement pour Stphane **
5 rue de Gy
41200  ROMORANTIN
FRANCE
Tl : (33)9 51 74 58 15

**(Treatment for Stphane)

#3071 From: "Stephane LION" <Steph.LION.41@...>
Date: Sat Jul 25, 2009 12:51 pm
Subject: FRA:Article "SOS pour Stphane" LePetitSolognot du 22/07/09
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S.O.S. Un appel de Stphane
De : Roger Smery
Parution : Le Petit Solognot
le : 22 juillet 2009

         Stphane LION, g de 43 ans, pre de famille avec trois enfants, est
atteint d'une ataxie crbelleuse SCA2, c'est une affection gntique de
transmission dite dominante. Ataxie signifie dsordre, c'est une pathologie
neuromusculaire qui consiste en un manque de coordination fine des mouvements
volontaires.
	 Des dysfonctionnements se sont rvls  l'ge de 38 ans, il y a donc cinq
ans: perte d'quilibre traduit par entorse, chute, constatation d'une locution
lente, dmarche titubante, problme de dglutition. Maladie qui volue vers une
progression invalidante.
	 Stphane a subi divers examens  Blois,  Tours en l'hpital Bretonneau,  La
Salptrire  Paris. Aprs diagnostic confirm, ces deux derniers hpitaux
dclarent: Il n'y a malheureusement pas de traitement curatif  ce jour et
l'volution va se faire vers une aggravation lentement progressive des
symptmes. Il faut bien sr poursuivre la rducation kinsithrapique de
l'quilibre et orthophonique.
	 Stphane vit une progression volutive plus rapide que prvue: troubles de la
marche et de l'quilibre; recours  la canne et au bout de 50m de marche
ncessit du  fauteuil roulant, en raison de la fatigue de la position debout;
troubles de la coordination des quatre membres, de dglutition entranant une
fausse route des aliments, de l'locution. Il effectue deux sances de kin et
une d'orthophonie par semaine qui lui sont bnfiques.
	 Lui qui a d quitter sa vie professionnelle d'informaticien conduisant son
entreprise avec des engagements civiques comme prsident de l'Association de
quartier Romo-Est(sa dmarche et son locution taient perus dans le mauvais
sens) affronte avec courage cette maladie avec l'aide rconfortante de sa femme.
	 Il peroit l'allocation adulte handicap (AAH)  666,96 uros et une majoration
pour la vie autonome (MVA) 104,77 uros, d'aide par mois, pour une famille de
cinq.
	 Il y a peu, fin mars 2009, une porte d'espoir s'est ouverte: aller se faire
soigner  Holguin, ville de 360000 habitants,  Cuba. En effet, le nombre de
patients atteints par cette maladie est important dans cette le. Les docteurs
Jorge Rodriguez Chanfran, directeur-adjoint du CIDEM (Centre de Recherche et de
Dveloppement des Mdicaments) et Luis Perez Velazquez, directeur du CIRAH
(Centre pour la Recherche et la Radaptation des Ataxies Hrditaires) ont
avanc dans leurs recherches et assur certains progrs.
	 Stphane s'accroche  cette planche de sauvetage mais les frais dpassent ses
possibilits: 2300  pour les soins et 2500  pour le voyage et l'hbergement
ncessitant 15 jours de prsence.
	 Stphane exprime avec une certaine lassitude le parcours ardu vis--vis de
l'administration.
	 Car il y aussi d'autres soucis, comme l'amnagement de sa salle de bain en vue
de mettre une douche de sol ( l'italienne), et aussi celui de faire fonctionn
l'assurance invalidit de son crdit habitat.
	 L'administration, est-elle bien au service du citoyen , surtout quand celui ci
est en plus diminu par la maladie ? Poursuivre son chemin vital sans bnficier
de certaines aides auxquelles il a droit parce que c'est compliqu. Pourtant,
combien de secours et de conseils seraient bnfiques ?.
	 Stphane vient de crer une Association pour bnficier de certaines aides qui
ne peuvent passer que par le canal associatif.
Un traitement pour Stphane
5 rue de Gy
41200  ROMORANTIN
Tl : 09 51 74 58 15

#3070 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Sat Jul 25, 2009 10:06 am
Subject: ENG: Science news - Central Nervous System Repair? Neuronal Survival And Axonal Regrowth Obtained In Vitro
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Central Nervous System Repair? Neuronal Survival And Axonal Regrowth Obtained In Vitro

 

ScienceDaily (July 24, 2009) While repair of the central nervous system has long been considered impossible, French researchers from Inserm, the CNRS and the UPMC have just developed a strategy that could promote neuronal regeneration after injury. The in vitro studies have just been published in the journal PLoS One.

 

Repair of the central nervous system and restoration of voluntary motor activity through axonal re-growth has long been considered impossible in mammals. Over the last decade, numerous attempts proved disappointing overall. The Inserm team led by Alain Privat has recently shown that an essential component interfering with regeneration was due to the activity of astrocytes, feeder cells that surround neurons.

Normally, the primary role of astrocytes is to supply the nutrients necessary for neuronal function. In the event of spinal injury or lesion, astrocytes synthesize two particular proteins (glial fibrillary acidic protein (GFAP) and vimentin), which isolate the damaged neuron to prevent interference with the operation of the central nervous system.

 

Source/read more: http://www.sciencedaily.com/releases/2009/07/090724113546.htm

 

 

 

 
 

#3069 From: "Gian Piero Sommaruga \(babelFAmily\)" <gianpiero.sommaruga@...>
Date: Fri Jul 24, 2009 9:37 pm
Subject: ENG: Clip of the film "It's About Living"
gianpiero.sommaruga@...
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----- Original Message -----
Sent: Friday, July 24, 2009 3:48 PM
Subject: [internaf] clip of film, "It's About Living"

 
 
 
Hi all,
Above is a link to a clip of my film, "It's About Living" on our Caring Voices website and Youtube!
We are looking for promoting it to any and all media outlets! So if you know anyone, please let me know. 
Thanks
Colleen


#3068 From: "Gian Piero Sommaruga \(babelFAmily\)" <gianpiero.sommaruga@...>
Date: Fri Jul 24, 2009 11:27 am
Subject: ITA: U.E. - ITALIA - Ricercatrici ricorrono a Consiglio di Stato su ricerca con staminali embrionali
gianpiero.sommaruga@...
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U.E. - ITALIA - Ricercatrici ricorrono a Consiglio di Stato su ricerca con staminali embrionali

 
 
Vedi:
 

#3067 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Fri Jul 24, 2009 11:24 am
Subject: ENG: The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia
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The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

 

(PLoS One open-access article,  full text)

 

Kindly supplied by Juan Carlos Baiges

 

 

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2710521

 

 

 


#3066 From: "Gian Piero Sommaruga" <gippi@...>
Date: Wed Jul 22, 2009 3:41 pm
Subject: FRA: Association Marocaine de l'Ataxie de Friedreich (AMAF) - info
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Association Marocaine  de l'Ataxie de Friedreich  (AMAF)

 

L'Association Marocaine des malades atteints de l'Ataxie de Friedreich (AMAF) a t cre l'initiative d'un groupe de personnes atteintes de l'AF et des membres de leurs familles, le 20 mai 2009 Oujda.

 

 

Site web:  http://www.ataxie.en.ma/

 

 


#3065 From: "Gian Piero Sommaruga \(babelFAmily\)" <gianpiero.sommaruga@...>
Date: Tue Jul 21, 2009 7:00 pm
Subject: ENG: message from George Chandu - Read SAMAG Article in SAKSHI Newspaper
gianpiero.sommaruga@...
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----- Original Message -----
From: GEORGE Chandu
To: Samag
Sent: Tuesday, July 21, 2009 7:50 PM
Subject: Read SAMAG Article in SAKSHI Newspaper


Greetings from SAMAG,

Hello all,
Please go through todays SAKSHI paper, under FAMILY edition our SAMAG article
has been printed.
Please find the attached links
http://epaper.sakshi.com/epapermain.aspx
please click on Page 1 - women towards the left hand side, you can see the
article.
Thanks and Regards,
Chandu & Satish +9849852726,+9949019410.
SEEK A MIRACLE ATAXIA GROUP
Please visit our website : www.ataxia.in


Thanks  and  Regards,
Chandu George,
SEEK A MIRACLE ATAXIA GROUP

Please visit our website : www.samataxiagroup.org

#3064 From: "Gian Piero Sommaruga" <gippi@...>
Date: Tue Jul 21, 2009 3:58 pm
Subject: ITA: Telethon finanzia la ricerca sulle atassie
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#3063 From: "Gian Piero Sommaruga" <gippi@...>
Date: Tue Jul 21, 2009 1:01 pm
Subject: ENG: SCA2 related article - Scientists Shed New Light on Cause of Inherited Move
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Scientists Shed New Light on Cause of Inherited Movement Disorder

Source: University of Utah Health Sciences 

  

Released: Mon 20-Jul-2009, 14:00 ET 
Embargo expired: Tue 21-Jul-2009, 08:00 ET 

Newswise University of Utah School of Medicine researchers and their colleagues at University of Texas (UT) Southwestern Medical Center have found strong evidence that abnormal calcium signaling in neurons may play an important role in the development of spinocerebellar ataxia type 2 (SCA2), a disorder causing progressive loss of coordination, speech difficulty, and abnormal eye movements. Their findings are published in the July 27, 2009 issue of Journal of Neuroscience.

SCA2 is an inherited neurodegenerative disease that predominantly affects neurons called Purkinje cells in the cerebellum, the region of the brain that controls voluntary muscle movements, balance, and posture. It is one of a group of genetic disorders characterized by ataxia, or loss of muscle coordination.

"We have known for some time that, at a molecular level, SCA2 is caused by glutamine repeat mutations in the ataxin-2 gene, but the exact mechanism of Purkinje cell degeneration is not well understood," says Stefan-M. Pulst, MD, University of Utah professor and chair of neurology, member of the Brain Institute at the University of Utah, and contributor author on this study. Pulst's group also discovered the ataxin-2 gene in 1996.

The glutamine repeat mutations found in SCA2 are also found in other neurodegenerative diseases, including Huntington disease (HD) and spinocerebellar ataxia type 3 (SCA3). It is commonly assumed that these disorders share a common pathogenic mechanism. Ilya Bezprozvanny, PhD, associate professor of physiology at UT Southwestern Medical Center, and his group had previously uncovered evidence that deranged calcium signaling played an important role in the pathology of HD and SCA3, so they thought that abnormal calcium signaling might also be involved in SCA2.

Calcium signaling refers to the movement or release of calcium ions as a form of cellular communication. Bezprozvanny and his colleagues demonstrated that the mutant ataxin-2 gene strongly associated with an intracellular calcium release channel, increasing the sensitivity of the channel to activation. They also found that enhanced calcium signaling contributed to the death of Purkinje cells in cell culture, but this effect could be attenuated by dantrolene, a stabilizer of intracellular calcium signaling. Bezprozvanny and his colleagues then approached Pulst, who had developed a mouse model of SCA2, in order to test whether these results could be replicated in genetically modified mice.

Source/read more: http://www.newswise.com/articles/view/554394/


#3062 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Fri Jul 17, 2009 9:06 pm
Subject: ESP: Profesora de la Universidad de Alabama recibe cerca de 700.000 $ para investigar la proteína frataxina
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Profesora de la Universidad de Alabama recibe cerca de 700.000 $ para investigar la proteína frataxina.

Noticia proporcionada en inglés por Juan Carlos Baiges - Resumen para BabelFAmily: M.L. González Casas

 Dra. Laura Busenlehner

15 julio 2009 -TUSCALOOSA, Ala.  — La National Science Foundation ha concedido a dos profesoras de la Universidad de Alabama los prestigiosos premios CAREER, por valor de 1.45 mill. $ que se dedicarán a investigar el papel de dos proteínas. Los premios CAREER se consideran el máximo galardón que se concede a jóvenes promesas en el campo de la investigación . Gracias a estos premios, los equipos seleccionados tendrán garantizada una dotación de personal que consiste en 3 investigadores graduados adjuntos a tiempo completo durante cinco años y un estudiante a tiempo parcial en los meses de verano.

Una de las profesoras galardonadas, la Dra. Laura Busenlehner, profesora adjunta  de Química, dedicará parte de este dinero a investigar el papel de la frataxina. La otra profesora, la Dra. Cladwell, dedicará parte del dinero a investigaciones con la proteína Torsina A, una proteína clave en Distonía y Parkinson. Son el tercer y cuarto premio CAREER concedido a la Univ. De Alabama.

La Dra. Busenlehner recibirá durante los próximos 5 años un total de  697.500 $ para su investigación en la frataxina, cuya deficiencia causa la ataxia de Friedreich. Debido a esta carencia se produce acumulación  de hierro dentro de las mitocondrias, las centrales energéticas de las células.

 

Leer más: http://www.babelfamily.org/es/ultimas-noticias/299-profesora-de-la-universidad-de-alabama-recibe-cerca-de-700000--para-investigar-la-proteina-frataxina

 

 

 

 

Website: www.babelfamily.org  

Visit forum

 E-mail: coordination@...  

 

BABELFAMILY

The international project to defeat Friedreich's ataxia
El proyecto internacional contra la ataxia de Friedreich
Le projet international contre l'ataxie de Friedreich
Das internationale Projekt gegen die Friedreich'sche Ataxie
Международный проект против атаксии Фридрейха
Il progetto internazionale contro l'atassia di Friedreich
O projecto internacional contra a ataxia de Friedreich
Internationella projekt för att besegra Friedreichs Ataxi
Friedreich’s ataksisini yenmek için uluslar arası proje



 

 


#3061 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Fri Jul 17, 2009 11:25 am
Subject: ENG: FA related news - UA Professors receive over $ 1.45 million in grants
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UA Professors receive over $ 1.45  million in grants

News kindly provided by Juan Carlos Baiges

July, 16 2009 - The National Science Foundation awarded two UA professors, Dr. Laura Busenlehner and Dr. Kim Caldwell , over $1.45 million in grants in June to further their research in the fields of chemistry and biological sciences.

 

Read more: http://www.babelfamily.org/en/latestataxianews/581-ua-professors-receive-over-145-million-in-grants

 

 

Website: www.babelfamily.org  

Visit forum

 E-mail: coordination@...  

 

BABELFAMILY

The international project to defeat Friedreich's ataxia
El proyecto internacional contra la ataxia de Friedreich
Le projet international contre l'ataxie de Friedreich
Das internationale Projekt gegen die Friedreich'sche Ataxie
Международный проект против атаксии Фридрейха
Il progetto internazionale contro l'atassia di Friedreich
O projecto internacional contra a ataxia de Friedreich
Internationella projekt för att besegra Friedreichs Ataxi
Friedreich’s ataksisini yenmek için uluslar arası proje

 

 

 

 

 

 

 


#3060 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Thu Jul 16, 2009 9:49 pm
Subject: ITA: Penwest annuncia i risultati della sua sperimentazione di fase Ib con l’A0001
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Penwest  annuncia i risultati della sua sperimentazione di fase Ib con l’A0001

Sintesi per BabelFAmily: M. L. González Casas e Gian Piero Sommaruga

 

DANBURY, Connecticut., 16 luglio 2009 (GLOBE NEWSWIRE) -- Penwest Pharmaceuticals Co. (Nasdaq:PPCO) oggi ha annunciato i risultati del trial clinico di fase Ib  con il composto A0001. La casa farmaceutica sta mettendo a punto questo prodotto per il trattamento delle malattie mitocondriali. Due alti dirigenti della compagnia,  Amale Hawi e Thomas Sciascia, presenteranno i risultati al “Friedreich's Ataxia Therapeutics Meeting”, un congresso focalizzato sugli approcci terapeutici per l’AF che si terrà a Philadelphia venerdì 17 luglio 2009.

Nella fase Ib della sperimentazione il farmaco è stato ben tollerato e nei soggetti volontari non sono stati riscontrati gravi effetti collaterali. In questo caso si è trattato di una sperimentazione “in cieco semplice” (1), controllata verso placebo a dosi crescenti e condotta su 40 volontari sani di entrambi i sessi per un periodo massimo di 14 giorni.  

A seguito dei buoni risultati ottenuti, Penwest intende avviare entro la fine del 2009 due sperimentazioni distinte di fase IIa in pazienti affetti da malattie mitocondriali, una per l’atassia di Friedreich e l’altra per la sindrome di Melas. Nelle sperimentazioni di fase IIa il composto verrà somministrato oralmente due volte al giorno. I risultati saranno disponibili entro la metà del 2010. L’A0001, o chinone alfa-tocoferolo, è un analogo del coenzima Q10 e in vitro ha dimostrato di migliorare la funzione mitocondriale. Penwest, che sta mettendo a punto questo prodotto con Edison Pharmaceuticals, ritiene che grazie all’A0001 sia  possibile  ripristinare nei pazienti la funzione mitocondriale e giungere così  a una valida opzione terapeutica. 

 

Nota:

(1)  Nella sperimentazione in “cieco semplice” i pazienti non sanno di quale gruppo fanno parte, se quello in cui viene somministrato il farmaco o nel gruppo con placebo. Nella sperimentazione “a doppio cieco” ne’ i pazienti ne’ i ricercatori sono a conoscenza di chi sia stato assegnato a ciascuno dei due gruppi (nonostante questa informazione venga registrata e archiviata in caso di necessità).

 

 

Link all’articolo originale (in inglese): http://www.globenewswire.com/newsroom/news.html?d=169097

Link alla sintesi in spagnolo:  http://www.babelfamily.org/es/ultimas-noticias/298-penwest-anuncia-los-resultados-de-su-ensayo-fase-ib-con-el-farmaco-a0001

 

Sito web: www.babelfamily.org  

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 E-mail: coordination@...  

 

BABELFAMILY

The international project to defeat Friedreich's ataxia
El proyecto internacional contra la ataxia de Friedreich
Le projet international contre l'ataxie de Friedreich
Das internationale Projekt gegen die Friedreich'sche Ataxie
Международный проект против атаксии Фридрейха
Il progetto internazionale contro l'atassia di Friedreich
O projecto internacional contra a ataxia de Friedreich
Internationella projekt för att besegra Friedreichs Ataxi
Friedreich’s ataksisini yenmek için uluslar arası proje

 

 

 

 


#3059 From: "Gian Piero Sommaruga \(casa\)" <gippi@...>
Date: Thu Jul 16, 2009 5:02 pm
Subject: ESP: Penwest anuncia los resultados de su ensayo Fase Ib con el fármaco A0001
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Penwest  anuncia los resultados de su ensayo Fase Ib con el fármaco A0001

Resumen y notas para BabelFAmily: M. L. González Casas

 

DANBURY, Conn., 16 de julio, 2009 (GLOBE NEWSWIRE) -- Penwest Pharmaceuticals Co. (Nasdaq:PPCO) anuncia hoy los resultados de su ensayo clínico en fase Ib  (1) con el fármaco A0001. La farmacéutica está desarrollando este producto para el tratamiento de enfermedades mitocondriales. Dos altos cargos de la compañía, Drs. Amale Hawi y Thomas Sciascia presentarán los resultados en el “Friedreich's Ataxia Therapeutics Meeting”, un Encuentro centrado en la AF, el viernes 17 de julio 2009 en Philadelphia, PA.

En la fase Ib del ensayo, el fármaco ha sido bien tolerado y no ha presentado efectos adversos serios en sujetos voluntarios. En este caso, se trata de un ensayo simple ciego (2), placebo controlado con dosis ascendientes. Se llevó a cabo con 40 voluntarios sanos de ambos sexos durante un máximo de 14 días.

Basándose en los resultados favorables, Penwest quiere iniciar el ensayo Fase IIa en pacientes con enfermedades mitocondriales. Uno de los ensayos se centrará en Ataxia de Friedreich y el otro en el Síndrome MELAS a finales de 2009.

 

Fuente/leer más: http://www.babelfamily.org/es/ultimas-noticias/298-penwest-anuncia-los-resultados-de-su-ensayo-fase-ib-con-el-farmaco-a0001

 

Website: www.babelfamily.org  

Visit forum

 E-mail: coordination@...  

 

BABELFAMILY

The international project to defeat Friedreich's ataxia
El proyecto internacional contra la ataxia de Friedreich
Le projet international contre l'ataxie de Friedreich
Das internationale Projekt gegen die Friedreich'sche Ataxie
Международный проект против атаксии Фридрейха
Il progetto internazionale contro l'atassia di Friedreich
O projecto internacional contra a ataxia de Friedreich
Internationella projekt för att besegra Friedreichs Ataxi
Friedreich’s ataksisini yenmek için uluslar arası proje

 

 

 

 


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