The interview series we are doing with Rare Genomics on Ataxia

General
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Date - October 4th: First 30 minute segment: 7pm EST (4pm PST); Second 30 minute segment: 7:30pm EST (4:30 PST)
It will be an hour long split into two sections.
- First 30 minutes focused on technological advances in the area of rare diseases.
- Second 30 Minutes focused on Ataxia. Basically a panel of two or three experts answering write in questions and some live ones which will come in via a podcast question aggregator.
Confirmed speakers/experts for this interview series are:
  • Dr. Misha Angrist, Duke University, Assistant Professor of the Practice, Institute for Genome Sciences & Policy
  • Dr. Lyon Gholson: Cold Spring Harbor, Assistant Professor of Human Genetics
  • Dr. Susan Perelman: Professor in the Department of Neurology at the David Geffen School of Medicine at UCLA. She is also Director of Ataxia and Neurogenetics Program at UCLA. She sits on the Medical Advisory Board of the National Ataxia Foundation

Now we need to get questions from our members, post in this thread by a reply

Thank You


To Register and Submit Questions Go To:

http://raregenomics.wufoo.com/forms/rgi-and-bens-friends-podcast-in...

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For information:

Misha Angrist on PubMed:

http://www.ncbi.nlm.nih.gov/pubmed?term=Misha%20Angrist

Lyon Gholson on Pubmed:

http://www.ncbi.nlm.nih.gov/pubmed?term=Lyon%20Gholson

Susan Perelman on Pubmed:

http://www.ncbi.nlm.nih.gov/pubmed?term=susan%20perelman

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My questions for the first part:

1. Which are, in your view the most important upcoming technological advances in research?

2. How can these advances help people with rare diseases?

3..How important are patient` registries/databases for technological advances in research?

4. How can patients contribute to this research?

5. Is there patients`involvement planned in ethical decision making regarding the direction of the future research ?

Akita

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Hi John, i just wanted to write down any questions.

Surely also other forum members will want to formulate such questions. I will do what i can, to find even more questions And at the end, we will choose which questions would be submitted as the most "burning".

The three specialists have published such a lot of review, articles,.. that one must be overwhelmed by that.

Maybe there is not so much echo on your request because of that. Also the materia is difficult to understand. Maybe members hesitate to ask, because the questions would be too basic. But i think, the experts should know, on which level of information the patients really are.

Partly forum members might have had much more contact with all this whole genome sequencinge, exome sequencing, second generation sequencing than me. I just met the subject occasionally in 2010 when i tried to report recent advances with mutation detection for diagnosis and therapy planning for patients with MDS/Myelodysplastic Syndrome: 5q-, TET2... and so are the mutations considered there.. But i was standing alone with my fascination for all that, maybe not the usual patient (because i had so many diseases and i am now a sort of professional patient).

But beyond all fascination i am in sorrow, whether mankind will deal with this new potential /possibility of personal genome sequencing and data collection for that, also implementation in the clinical practice, with all the necessary responsibility. What happens if in the genome of a child would be detected a "gen-of-probable murderer - to be", how will be dealt with neuropsychological diseases? Will the result of the Genome sequencing decide one day, if a person would be held in detention for prevention of crimes?..

From the few reports i read (fast reading) with the contribution of Misha Angrist i learned that he/she must be a deeply honorable scientist, ready to consider and discuss all the sensible topics, also with the patients. From the other respondents i have not read anything up to now.

This scientific field is very young, and so it will supposedly last for some years, till the general discussions have lead to a clear end. For example: Whats about patents and exclusive licences for gen-testing? Who will take the lead in the research?

Will it be in the full free choice of pharmaceutic enterprises to determine, how much gene tests will cost, or if they would let fall down specially small patient popolations of rare diseases by not conducting further research, but instead not renewing their licencing applications or withdrawing them, with the result that this group will be without access to these new techniques? Many questions..

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Misha Angrist

http://www.personalgenomes.org/pgp10.html

An interview with Misha Angrist in 2010:

http://scienceblogs.com/clock/2010/03/30/scienceonline2010-intervie...

He was one of the first person who where completely genome sequenced. Maybe he could tell us, how this functions?

438-MishaAngrist.jpg (7.52 KB)
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How does Ataxia affect patients in relationship to chromosomal deficiencies like Angelman Syndrome? My son has both. It seems like most (if not all) A.S. diagnosed people also exhibit Ataxia. Is Ataxia part of A.S. or is it separate? Angelman Syndrome has so many facets to it!

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Looking forward to listening online to this very iterestingg and excellent broadcast.

Alan Thomas

LWA - Ataxia South Wales - Welshfocus

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Should Ataxia be treated separately to Angelman Syndrome? Is there medicine for Ataxia that would help A.S. patients to walk and use pens/crayons, etc?

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My wife as SAC3,Is there a cure or something that can slow the onset of the illness drastically.

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this is going to be awesome!

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When you would have found out some more gen mutations which could cause Ataxia, what will the future of diagnosing bring for the patients, who could not get a diagnosis in the past?

Will the tests be much more expensive?Or will there be another, new method, of testing?

Which advantages will your research work bring for the still undiagnosed Ataxia patients within the next years?

Thanks.

Margarete

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A question to Dr. Perelman:

What are the main points of your concept for rehabilitation in your clinic for patients with post-polio syndrome, especially in patients education?

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RGI and Ben's Friends Podcast Interview Series

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You are invited to the first episode of our podcast series-

Rare Disease Podcast Session #1: ATAXIA

DATE: 10/4/2012 TIME: 7-8 PM EST (4-5PM PST/MIDNIGHT-1AM BST)

  • What question would you ask about ataxia if you had the experts at hand?
  • Are you interested in learning about the latest developments in genomics and biotechnology?
  • Have any burning questions you have wanted to ask about ataxia but haven’t had the chance?
  • Here’s that chance!
    The first 30 minute segment will feature scientists discussing the latest developments in technologies of interest to the ataxia community. Here are some examples of the questions that will be answered in the first half:
  • What are the newest developments in ataxia research?
  • What is on the horizon in terms of treatments and cures?

http://raregenomics.wufoo.com/forms/rgi-and-bens-friends-podcast-interview-series/

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Looking forward to hearing this broadcast.

I tried to stay awake to find out where to listen "LIVE"

but EXHUASTION set in.

Alan

Wales, UK

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Hi Alan,

i understand you so well. :) Afterwards we will get the record of the broadcast and we will be able to discuss them with plenty of time, then. We have sent in some questions and by this way we participated already enough in the broadcast. My day also will end soon.

Margarete

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Hi,

here you can read the transcript of the podcast (not the extra material by Prof. Susan Perlman, but the first recording!

http://raregenomics.org/wordpress/2012/11/03/podcast-transcript/

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Thanks for the post. I listend to the podcast a while ago but actualy reading it reminds me how important it is to register. The advances they have made is great, but whether its right or wrong ,money is a big factor. So lets all register and make things more attractive to the right people.

Punk

437-ROTTEN6b3fjtz.jpg (55.2 KB)
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Which registering do you mean?

Money is a big factor, you are right. Without money many things don`t run in our world. Except perhaps being a farmer.

There is a saying that time would be money. In this sense this podcast has not only provided technical ressources, but also the time of the interviewed persons and team members of rare genomic involved into the preparation and performing. It seems as if new times would emerge now, young research teams and communicative neurologists...

Akita