First100000 Genome Project Meeting

Today I was part of an interesting meeting at Moorfields Eye Hospital.

I had heard of the 100,000 Genome Project before, but I had not known that LHON is one of the rare diseases they will be studying.

I was invited to review the Draft Patient Information and Patient Consent Form  as part of a dozen or so patient representatives.

Two of us are affected by LHON.

This was not just reviewing documents, it was a chance to learn  something about the project.

We met  some of the people on the project team and had some interesting conversations about the project as a whole.

What is your Genome?

First a brief description of Genes, DNA and Chromosomes

Your body is made up of a huge number of tiny compartments called CELLS.


simple structure of a cell

We all start from just one cell – the fertilised EGG.

The fertilised egg has to contain all of the information that tells it how to grow and develop into a human body.

Scientists call this information GENES.

Genes tell the body how to function, how to turn food into fuel, how to build new parts of a cell, how to grow and divide into more cells. Genes control your blood group, your eye colour, hair colour, skin colour, all sorts of physical characteristics.

Genes are physically stored in the cell using a special chemical called DNA.  DNA can hold a vast amount of information, because it forms very long chains.  Each “link” in the chain can be represented by a letter.  The letters used are A, C, G and T.

This might seem a very simple alphabet, but with only four letters,  DNA can hold a lot of information because the chains can be millions of letters long.

Doctors represent a piece of DNA by writing down its string of letters like this


Doctors call working out the string of letters “Sequencing” the piece of DNADNA and genes are stored using DNACells in the body contain DN


The DNA is in structures doctors call Chromosomes.

There are 46 Chromosomes in the Nucleus, grouped into 23 pairs.

You inherit one of each pair from your Father and one from your Mother.

Doctors can extract the Chromosomes, stain or dye them, and put them under a microscope to get pictures like this.

Human male chromosomes

Inside the cell there are many Mitochondria.  Each one has its own tiny piece of DNA or Chromosome.

The Mitochondrial Chromosome is tiny compared to the ones in the Nucleus.  It only holds 37 genes of the 23,000 or so we have. It is usually drawn as a circle like this.

mitochondrial chromosome with 3 common LHON mutation locations

There are 16569 “letters”  in the mitochondrial chromosome.

This diagram shows the structure of a mitochondrial chromosome with the positions of the 3 commonest LHON causing mutations.

Doctors often call the letter position the “base pair” number or bp.

Genes to Genome

Scientists worked out most of what we know about chromosomes, DNA and Genes in the 20th Century.  Those discoveries made a huge difference to people.  Doctors and researchers developed medical tests, treatments, even cures using this understanding.

They thought that some of this DNA in the  nucleus and mitochondria held 23,000 useful genes, and the rest of the DNA was meaningless  “junk”.

Recently researchers realised that pretty much all of the DNA serves some useful purpose.  If it isn’t a gene, it might control a gene, switching it on and off.  It might be very important because it causes or prevents a disease.

All of the DNA in the 46  nuclear chromosomes and one mitochondrial chromosome lumped together is called your GENOME.

Why is my Genome important?

Something in your Genome might:

  • be the root cause of a disorder
  • control if a drug works for you
  • control if you have sever side-effects
  • make you more likely to develop a disorder
  • make you less likely to develop a disorder

What is the 1000,000 Genome Project?

This is a major medical research project run on behalf of the UK Government.

The aim is to recruit around 70,000  patients and their relatives.

Patients eligible to take part  will have a rare disorder or a rare form of cancer.  The project is studying a specific list of rare conditions.

LHON is one of the rare disorders being studied.

<Updated  22 September>

LHON patients where they or their doctors already know the LHON mutation are not eligible to take part.

The 100,000 Genome Project is only including LHON patients where genetic testing has not found one of the known LHON mutations.

<end of update>

Medical staff will collect blood samples and use them to work out or “Sequence” all of the letters of their genome. That will be around 6,000,000,000 DNA letters per person.

If someone has a rare cancer then the project will also work out the DNA genome of the cancer tumour and compare it to the genome of the normal body tissue.

Recruits will also agree that the project can take copies of their complete medical history, right from their birth.

There will be very strict controls and security on this confidential data.

The project team will have details like name and address, but researchers studying the data will only see the DNA sequences and health records, without any identifying data.

Project researchers will be able to do very sophisticated comparisons and searches  using this big pool of patient data.

Doctors are looking for patterns in the data.

To find patterns, it is absolutely vital that they recruit as many willing volunteers to take part as possible.

If they get lots of samples from LHON Affected people and LHOHN carriers,  they will be able to compare their complete genome using computers.

This might highlight some other genetic factor which controls who is affected and who is not.

Of course, nothing is certain.  Doctors might not find any new genetic factor, but without the help of LHON affected families we will never know.

The project will do similar work for each of the rare diseases.

If you choose to take part, your health and DNA detail be part of this huge pool of anonymised records.

Data from LHON affected families won’t just be used to do research into LHON.

Researchers will use data from all of the recruits  to gather knowledge about all of the DNA and how it influences our health.

This isn’t meant to be a complete description of the project, just a highlight.  More information will be coming out soon, and you can already find out a lot by visiting the Genomics England website.

When is this happening?

The project has run some trials and pilots already.

They are working on patient information, consent forms and how doctors will recruit people into the project.

At the moment the target date for collecting all the patient samples and information is the end of 2017.

Researchers will be using computers to analyse the data and hopefully find useful results as soon as enough patient / relative data is ready.

I would like to know more



You can find out some information on the 100,000 Genome Project on the Genomics England website.

How do I get involved?

If you are a patient of a hospital consultant in England, contact your consultant. Tell him/her that you have LHON and want to be referred to the 100,000 Genome Project.

Taking part in the project is completely voluntary.

Someone from the Project will give you the patient information, explain the project and go through a consent form with you.

I haven’t seen a consultant in years, what do I do?

We told the project organisers that many people affected by LHON do not have frequent or regular contact with a hospital consultant about LHON.

They are working on an updated  recruitment process to get around this issue.

Look for more announcements and project feedback.