Check out her website: http://mortati.com/
"You Can Ring My Bells" part 1:
The inspiration for this piece was both magical and opportunistic. It's based on a mechanical bells piece at the Museum of Jurassic Technology...
...and inspired by something in a Rube-Goldbergesque segment from a piece I did with some friends years ago at the Exploratorium. One of the team members took threaded rods and washers and spun them, which created a wonderful bell-like sound, similar to the MJT sculpture.
The opportunistic part comes from working with what I have around the house- and old desktop-sized prototype that I'm cannibalizing, and lots of parts from other prior projects:
I started with the sound, and testing various types of washers:
So far I have found that using smaller washers on a threaded rod makes a nicer sound than larger washers. Not what I was expecting.
The idea is that you'll crank a handle and you get a tinkling bells sound. Let's see how it comes together.
CHARCHOT MARIE TOOTH
I’m pleased to say that a lot of people have been asking me to describe in more detail what is happening with the current research that this project is helping to fund. Over my next 2 posts I hope to address the nerds among us, I'll explain the (very) basic genetics behind CMT1a and an overview of the STAR program (Strategy To Accelerate Research); a remarkable collaboration of prominent international scientists, initiated and funded by the Charcot Marie Tooth Association (CMTA), working towards treatments and cures for CMT.
What makes the current research around CMT so interesting (and promising), is that the scientific understanding has reached a finite stage. Scientists have identified the specific physical cause for certain types of CMT. They have identified the gene defect that results in the condition and can recreate it in a laboratory. Now they are testing different compounds to see which ones counteract the gene defect and stop or even reverse the physical condition, i.e. be therapeutic agents for CMT1A and other forms of CMT.
“CMT is unlike other neuromuscular disorders because its causes have been pinpointed, leading to the identification of at least 33 specific gene defects. More importantly, the fact that these genetic mutations can be replicated in laboratory models and grown as tissue cultures opens an extraordinary window of opportunity to develop treatments and cures for CMT in the immediate and foreseeable future.”
(Taken from The CMTA website: http://www.charcot-marie-tooth.org/STAR.php)
More on that in the next post, first we must do basic genetics...
There are lots of different types of CMT. The STAR program is concentrating on type CMT 1a to start with because it is both the most common and understood. As in my CMT Science #1 post, I’m going to do the same, it is also the type I have so that which I know most about. However, all the types (of which there are about 30, some more understood than others) are connected, so it is anticipated that the research will lead to treatments for them all.
CMT 1a:
Let’s start with some biology basics so this isn’t too abstract of an explanation.
YOU are made up from lots and lots of cells.
The cells have different important parts, the core being the nucleus. (Hopefully this is ringing some bells from school).
Within the nucleus of the cell are chromosomes, these are the things that define what the cell is a does. They carry all of the information used to help a cell grow, thrive, and reproduce. Chromosomes are organized structures of DNA. Segments of DNA in specific patterns are called genes. Your genes make you who you are. There we go, full circle, back to YOU.
So let's change this to ME, as I have CMT1a.
As with most people, I have 23 pairs of chromosomes. However, pair number 17 isn't how it's supposed to be... it is mutated so that it produces something it shouldn’t. It creates a duplication of a gene within something called a Schwann cell.
So this is all a leads up to understanding that someone with CMT 1a has Schwann cells that are abnormal, herein lies the key discovery towards treating CMT. The Schwann cells in the body are an integral part for the peripheral nerves. They are there to produce a protein (PMP22) and myelin – which if you remember (see post CMT Science #1) makes up the insulation for peripheral nerve cells. The duplicated gene in the Schwann cells causes them to produce more of the protein (PMP22) than they should. The result is that it causes the myelin sheaf around the axon of the peripheral nerve to deteriorate – Hence the cause of all the symptoms of CMT 1a.
I'll explain how this discovery has led to ground breaking research in the next post, CMT Science #3, but here is a taster talking about how innovative the research program is.
CLICK HERE TO SEE THE VIDEO
On June 15, 2010 the U.S. House of Representatives' Committee on Energy and Commerce, Subcommittee on Health, held a hearing titled "NIH in the 21st Century: The Director's Perspective." Testifying before the Congressional Subcommittee was NIH-Director Dr. Francis Collins. During Dr. Collins' testimony, the exchange on the video above occurred with Representative Eliot Engel.
INSTRUMENTS
post by Maria Mortati
"You Can Ring My Bells" part 1:
The inspiration for this piece was both magical and opportunistic. It's based on a mechanical bells piece at the Museum of Jurassic Technology...
...and inspired by something in a Rube-Goldbergesque segment from a piece I did with some friends years ago at the Exploratorium. One of the team members took threaded rods and washers and spun them, which created a wonderful bell-like sound, similar to the MJT sculpture.
The opportunistic part comes from working with what I have around the house- and old desktop-sized prototype that I'm cannibalizing, and lots of parts from other prior projects:
I started with the sound, and testing various types of washers:
So far I have found that using smaller washers on a threaded rod makes a nicer sound than larger washers. Not what I was expecting.
The idea is that you'll crank a handle and you get a tinkling bells sound. Let's see how it comes together.
CHARCHOT MARIE TOOTH
post by Tim Phillips
CMT Science #2
What makes the current research around CMT so interesting (and promising), is that the scientific understanding has reached a finite stage. Scientists have identified the specific physical cause for certain types of CMT. They have identified the gene defect that results in the condition and can recreate it in a laboratory. Now they are testing different compounds to see which ones counteract the gene defect and stop or even reverse the physical condition, i.e. be therapeutic agents for CMT1A and other forms of CMT.
“CMT is unlike other neuromuscular disorders because its causes have been pinpointed, leading to the identification of at least 33 specific gene defects. More importantly, the fact that these genetic mutations can be replicated in laboratory models and grown as tissue cultures opens an extraordinary window of opportunity to develop treatments and cures for CMT in the immediate and foreseeable future.”
(Taken from The CMTA website: http://www.charcot-marie-tooth.org/STAR.php)
More on that in the next post, first we must do basic genetics...
There are lots of different types of CMT. The STAR program is concentrating on type CMT 1a to start with because it is both the most common and understood. As in my CMT Science #1 post, I’m going to do the same, it is also the type I have so that which I know most about. However, all the types (of which there are about 30, some more understood than others) are connected, so it is anticipated that the research will lead to treatments for them all.
CMT 1a:
Let’s start with some biology basics so this isn’t too abstract of an explanation.
YOU are made up from lots and lots of cells.
The cells have different important parts, the core being the nucleus. (Hopefully this is ringing some bells from school).
Within the nucleus of the cell are chromosomes, these are the things that define what the cell is a does. They carry all of the information used to help a cell grow, thrive, and reproduce. Chromosomes are organized structures of DNA. Segments of DNA in specific patterns are called genes. Your genes make you who you are. There we go, full circle, back to YOU.
So let's change this to ME, as I have CMT1a.
As with most people, I have 23 pairs of chromosomes. However, pair number 17 isn't how it's supposed to be... it is mutated so that it produces something it shouldn’t. It creates a duplication of a gene within something called a Schwann cell.
So this is all a leads up to understanding that someone with CMT 1a has Schwann cells that are abnormal, herein lies the key discovery towards treating CMT. The Schwann cells in the body are an integral part for the peripheral nerves. They are there to produce a protein (PMP22) and myelin – which if you remember (see post CMT Science #1) makes up the insulation for peripheral nerve cells. The duplicated gene in the Schwann cells causes them to produce more of the protein (PMP22) than they should. The result is that it causes the myelin sheaf around the axon of the peripheral nerve to deteriorate – Hence the cause of all the symptoms of CMT 1a.
I'll explain how this discovery has led to ground breaking research in the next post, CMT Science #3, but here is a taster talking about how innovative the research program is.
CLICK HERE TO SEE THE VIDEO
On June 15, 2010 the U.S. House of Representatives' Committee on Energy and Commerce, Subcommittee on Health, held a hearing titled "NIH in the 21st Century: The Director's Perspective." Testifying before the Congressional Subcommittee was NIH-Director Dr. Francis Collins. During Dr. Collins' testimony, the exchange on the video above occurred with Representative Eliot Engel.
So ridiculously exciting!
ReplyDeleteAnd kudos to you for so eloquently describing the science behind CMT.
Thanks Nic.
ReplyDeleteOn the science in school direction, here's a nice little animation about genes from the London Science Museum: [follow the link - click play]
http://www.sciencemuseum.org.uk/WhoAmI/FindOutMore/Yourgenes.aspx
It's obvious that the body is far too complicated for me to ever fully understand, but I enjoy visualizing the fragments I can...
...Oh, and in case you hadn't noticed, I agree - the research IS ridiculously exciting! (As are the instruments).