Life 2.0 – a chance to fix the faulty bits?

dna-crane

Rebuilding DNA with CRISPR. Source: New Yorker, Illustration by Todd St.John

BIG things are happening in genetics, for BigD-ers and for the rest of the world. Scientists have discovered a naturally-occurring, highly accurate gene editor, that can be used to cut and paste or delete genes or parts of genes in DNA. They can use the editor to remove a disease-causing mutation, replace faulty or undesirable parts of a gene or to turn a gene off completely.

What could this mean? Say you’ve inherited a genetic mutation that guarantees you’ll get polycystic kidney disease by the time you reach adulthood. And that it is most likely you will spend the rest of your life on dialysis.

What if the mutant genes that cause polycystic disease, passed down from generation to generation, can be clipped out of your genome entirely and you never pass it on to any of your offspring? (more…)

Kidney disease: meant-to-be or dumb luck? Part 2 – DNA

DNAOne of the (many) cool and wondrous benefits of being alive in the 21st Century is our ability to look deeply into our own bodies, right down to the very building blocks of life, our DNA, to glimpse our personal program for life.  Another almost-as-amazing benefit is that it costs just $99!

I was keen to check it out to see if my DNA had my kidney failure pre-programmed or if it was just dumb bad luck.

Getting started

I had read quite a bit about 23andMe and had long been keen to see what it had to offer.  So I clicked buy and began my journey. (more…)

Kidney disease: meant-to-be or dumb luck? Part 1 – Chance

gladstone ganderI have often wondered if my kidneys were programmed to fail when I was born, or if they were simply the victim of a rough and tumble world; or maybe a bit of both.

I know, everybody is different, but maybe my case could be useful for others.

I had some kind of blockage that stopped urine from leaving my left kidney, which eventually destroyed it.  It happened when I was 19, full of beans, and in the Navy.  (more…)

MSCs help us Reject Rejection

mesenchymal_stem_cell 2The light of rejection-free, healthy kidney transplants has entered the tunnel, and should arrive at our end in just three to five years.

Last month a senior researcher from the Cell and Tissue Therapies WA at the Royal Perth Hospital (CTTWA) presented a paper to the Renal Society of Australia‘s annual conference that has profound implications for us BigDers.  It detailed their early clinical trial successes in using Mesenchymal Stem Cells (MSCs) to stop kidney transplant rejection and to repair acute kidney injury (among many other medical wonders). (more…)

Every donor kidney a perfect match: no more transplant drugs!

Stem CellsWe all hate rejection.  It hurts us somewhere deep inside.  And those of us who’ve had an organ transplant hate it most of all.  Because the only way to make all that pain go away is by taking a hearty (sometimes heroic) dose of anti-rejection drugs.

Rejection is driven by our body’s immune system, a collection of cells (T cells) that recognise and destroy foreign cells: germs, poisons, other bits that find their way into us. All cells have proteins called antigens on their surface.  As soon as these antigens enter our body, the immune system recognises that they are not from our body and attacks them.

When we receive an organ transplant, our immune system (more…)

Dialysis news flash!

It’s been an interesting news week for BigD-ers, with a major advance in stem cell technology  It wont happen tomorrow, but the potential is now the possible: growing a new kidney from stem cells.   It’s not certain yet whether it will be done inside the body, or in a dish and transplanted when full grown, but if we can hang around a few years…

Just click on the headlines below for more.

Australian scientists grow mini-kidney in lab 

Stem cell mini-kidney in a dish

Plus:

University of Queensland kidney breakthrough a step forward in bio engineering

Dialysis needling: if at first…

 

Buttonholes

Buttonholes!

Josie (not her real name) emailed me recently about a problem she had getting one of her needles in:

 

Hi Greg

I hope you don’t mind me getting in touch. My name is Josie, I live in the UK and started home haemo a few months ago. I have had a problem with my fistula tonight and because it is Friday night here I can’t get hold of any of the nurses from my training unit, and having followed your blog I thought I could seek your advice… as I say, I hope you don’t mind me doing so. (more…)

Dialysis and Fluid Restrictions – Tips and Tricks

This week, a guest post from Ros Ball, Past President and currently Secretary of DATA, the Dialysis and Transplant Association of Victoria (Australia).  You may remember Ros when I wrote about her in June a couple of years ago.  She and her husband Charlie have outfitted their caravan with a dialysis machine and travel where most BigD-ers fear to tread:  the wide open spaces of the outback.  Ros’s get up and go, regardless of the demands of BigD is an inspiration, and puts the rest of us sometime travellers in the shade. (more…)

Dialysis: Back to the future with implantable artificial kidney

Hello and welcome to my first post for the New Year.  I hope you had a good Christmas and celebrated the arrival of 2011 in a style that set the tone for the year ahead.  My New Year was easy-going: we went to see The King’s Speech at the movies on New Year’s Eve, followed by a drive to Falls Creek, Victoria’s biggest alpine resort on New Year’s Day.  We stayed overnight and I was back in time for the BigD the next day.

The King’s Speech was a great movie: fabulous acting by Colin Firth and Geoffrey Rush and an inspiring message about how persistence and courage can win you back your life (a familiar theme, and not just for stammerers). (more…)

“Tinkerer” builds his own Dialysis Machine

At various times, I wish we were a little more advanced with the BigD. I wish for access without needles, wearable artificial kidneys and stem cell therapy to regrow a healthy kidney. I am sure they will arrive, eventually.

But once I get over my impatience, reality sets in and I realise how lucky I am to be alive right now, when dialysis has not only been invented but is the streamlined, readily reproducible treatment I take for granted. And to some extent, the same goes for transplants. Today, no-one expects to die from kidney failure, they just (just?) go on dialysis and line up for a transplant. (more…)