Saturday, 16 February 2013 19:48
 Dr Stefano Gustincich
Published on January 31, 2013
News kindly supplied by Kreso Babic
One of the most innovative biotechnologies of the last decade has recently been developed. SINEUP allows scientists, for the first time, to target individual genes in cells to knockup, or increase, the amount of protein they make. The technique will improve Protein manufacture, analyse the function of genes and engineer improved cell function.
This novel technology is based on pioneering research in the lab of Dr Stefano Gustincich at SISSA in Trieste. The mechanism relies on the discovery of an entirely new function for RNA. Although most well known as a messenger RNA molecule made by genes for protein synthesis, most RNA is not actually made by genes. Once thought to be junk, important functions for non-coding RNA are increasingly being found.
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Friday, 21 December 2012 19:45
THE INTERNATIONAL LITERARY PROJECT AGAINST FRIEDREICH’S ATAXIA
Tel.: (+34) 637046067 - (+34) 91 632 14 09
E-mail:
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The realization of the BabelFAmily INTERNATIONAL LITERARY PROJECT!
In December 2010, Maria Blasco Gamarra, writer and someone who has Friedreich’s Ataxia, contacted the BABELFAMILY association. She wanted to share an ambitious idea with us: to write a novel with other authors from all over the world who, like her, suffer from Friedreich’s Ataxia, and to donate the profits to the biomedical research into curing the illness.
The authors could write in their maternal language, since the work would be translated by a team of volunteer translators from BabelFAmily into several languages. On her initiative, other writers got on board: Fátima D’Oliveira (Portugal), Marguerite Black (South Africa), Maria Pino Brumberg, Eva and Diego Plaza Gonzalez, Ramon Herreruela Roldán, Inmaculada Priego Priego, Ana Pilar Tolosana, Kristina Zarrantz Elizalde and Maria Luz Gonzalez Casas (Spain), Jamie Leigh Hansen and Susan C. Allen (U.S.), Nicola Batty and Sarah Allen (UK), Claudia Parada (Mexico) and Rebecca Stant (Australia). Each author wrote a chapter of the book following a simple storyline which acted as a guiding thread bringing unity to a story without constraining the creative freedom or writing style of each author. A journey in time and space which uncovers an enigma, a terrible secret buried for more than a century.
During this journey spanning two years, the writers have shared hopes and joys and many experiences which have enriched personal and literary experiences, but they have also mourned the death of fellow writer Nicola Batty, who unfortunately could not overcome the last crisis of Friedreich's ataxia. "We hope that where you are now is as beautiful as your prose."
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Saturday, 19 May 2012 14:01
 Jamie Leigh Hansen
"Jamie: I have Friedreich’s Ataxia (FA), which is a hereditary recessive neurological disease."
Posted on May 18, 2012 by Sandy
The Reading Cafe would like to introduce paranormal romance author Jamie Leigh Hansen.
“I love dramatic, heart-felt stories. I love mixing the magic and wonder of an anything-can-happen kind of world with the daily lives we all struggle with. It adds a sense of hope and adventure to whatever we’re dealing with, be it health, financial or personal problems. Taking a break from the everyday grind to think positively and see a possibility that something will good happen to you soon is what keeps people going even in times of great struggle.”
Website Link Jamie Leigh Hansen
RC: Hi Jamie. Welcome to The Reading Café.We would like to thank you for responding to our request for an interview. We are always happy to know about the authors we have read and what they are doing.
Jamie: Thank you for finding me on the web, Sandy. The Reading Cafe looks wonderful and there is so much to read and see here! You’ve set up an incredible site.
TRC: Thank you. We would like to start with some biographical background. Would you tell us something about yourself?
Jamie: I am very fortunate in that I married my high school sweetheart and we will soon celebrate 18 years together. I believe in love, the good, the bad and the ugly and I hope to keep my novels realistic while showing the HEA can really happen.
TRC: When did you start writing? Have you always been interested in writing?
Jamie: I’ve always had a fascination with reading and with books, but my love of writing didn’t develop until later in my teen years. Looking back at some of the assignments I wrote for class, and some of the stories I wrote on my own, I see I’ve always loved heart-touching, dramatic stories. One of the most memorable would be of a girl whose brother was in a coma as she comes face-to-face with the kid who put him there. Then there’s the photo journalist who disappears into a rainforest and is captured by cannibals. My imagination took me into some crazy places. LOL
TRC: How involved in the writing process is your family?
Jamie: My husband and daughters read what I have written and support me through each step of the story. My youngest daughter, however, will sit and analyze each detail of the story and characters. She definitely has a writer’s mind and a passion for my stories that keeps me encouraged even when I am convinced the entire story is falling apart.
TRC: You are interested in the fund raising and research in Ataxia. Would you explain about Ataxia and how you became involved with their cause?
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Monday, 21 January 2013 17:40
 FARA Clinical Research Network investigator Theresa A. Zesiewicz, MD
Published on January 7, 2013 at 7:01 AM •
Edison Pharmaceuticals today announced the initiation of a phase 2B study entitled, "Safety and Efficacy Study of EPI-743 on Visual Function in Patients with Friedreich's Ataxia."
The trial is a placebo-controlled study lasting six months, followed by an extension phase in which all subjects will receive EPI-743. Subjects must be between 18 and 45 years of age, possess genetic confirmation of Friedreich's ataxia, and meet certain disease severity criteria. The primary endpoint of the trial is visual function, with secondary endpoints including neurological and neuromuscular function and disease-relevant biomarkers. More information on study specifics is available on ClinicalTrials.gov.
This trial is being conducted with the assistance of investigators from the Friedreich's Ataxia Research Alliance (FARA) Clinical Research Network and FARA's Patient Registry. "FARA is excited about the commencement of the EPI-743 Friedreich's ataxia clinical trial, and is working closely with Edison Pharmaceuticals and Clinical Research Network investigators to expedite enrollment," stated FARA President Ronald Bartek . "This trial represents the importance of public-private partnership in drug development and the culmination of FARA-sponsored translational research, initiated with both FARA and National Institutes of Health (NIH) support."
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Friday, 21 December 2012 22:39
 Dr Julie Greenfield
By Dr Julie Greenfield, Ataxia UK
A series of lay presentations were given by international ataxia researchers for the euro-ATAXIA conference. These are summarised below.
Update on recessive ataxias - Professor Michel Koenig (Strasbourg, France).
Prof Michel Koenig from the University of Strasbourg began with an update on the non-Friedreich’s recessive ataxias and improving diagnosis. Screening to find the genes responsible for an individual’s ataxia is a difficult problem as there is no specific pathway linked to recessive ataxia. Rather, sensory nerve cells and nerve cells in the cerebellum are vulnerable in a number of different ways. He described next generation sequencing as a technological advance that will help in providing patients with specific diagnoses and highlighted how many new types of recessive ataxia are emerging, often very rare forms.
Some newer conditions were described in some more detail. ARCA1, for example, is a pure ataxia only identified in Canada so far. He thought that the reason for not having identified other families is probably due to the technical difficult and high cost in finding mutations in this gene due to it being such a large size. ARCA2 is an ataxia associated with CoQ10 deficiency that could potentially respond to CoQ10 supplementation; and finally ARCA3 is a new entity which is associated with late onset, slow progression and a pure ataxia.
Can we manipulate our own stem cells and could this be a future therapy for the ataxias? Professor Silvia Marino (Barts and the London School of Medicine and Dentistry, UK).
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Sunday, 06 May 2012 22:08
 Roberto Testi, Professor and Chair in Immunology
April 24, 2012
BabelFAmily: Dr. Testi, you are one of the foremost doctors researching possible Friedreich's Ataxia treatments and cures. As such, we wanted to conduct an interview with you to share news of your progress with our global readers and audience. And, it may be a little late but, we want to congratulate you on being a winner of the fourth prestigious Advanced Grants 2011 competition from the European Research Council for your Friedriech's Ataxia research.
Can you tell us about your interest in FA and how you became involved in this rare disease from a research perspective?
Dr. Testi: My scientific interest has been focused on the molecular basis of receptor signal transduction and cell death programs, including mitochondrial cell death, for many years. About 10 years ago I decided to focus on a specific disease in which mitochondrial cell death was playing a role. Among the potential candidates, Friedreich’s ataxia was particularly interesting because of its relative simplicity (defined, single gene defect), the appeal of a primordial and mysterious protein (frataxin) and, most of all, the urgent need of a therapy. So I progressively redirected 100% of the efforts of my group to FA research.
BabelFAmily: How many different projects are you working on around FA research?
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