DNA Day 2023: 5 research breakthroughs we are funding that owe a debt to the Human Genome Project

25 April 23

written by:

Sarah Kidner

(more articles)

April 25 is DNA Day. For 2023 the year holds special significance as it marks the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the DNA double helix discovery. These pioneering discoveries have enabled us to fund ground-breaking projects, which can lead to the early identification, treatment and potential reversal of sight loss. We reveal five sight loss breakthroughs that are indebted to pioneering genome research.

Find out more in All About Genetics.

The Human Genome Project explained

Led by an international team of scientists, the Human Genome Project ran from 1990 and was completed in April 2003. It generated the first sequence of the human genome, accelerating the study of human biology and medical advances.

The UK played a significant role in the scientific breakthrough.

Wellcome Trust Sanger Institute contributed over 0.8 billion of the 2.9 billion letters, or 30%.

In a press release from the Wellcome Trust, Professor Kay Davies, Department of Human Anatomy and Genetics, University of Oxford, said: "One of the great benefits to spring from the Human Genome Project is the entire catalogue of genes, which gives us a clearer route to therapies.”

Seventy years ago, James Watson and Francis Crick discovered the double helix. It was a scientific milestone because it advanced our understanding of how genes control chemical processes within our cells.

Model of a double helix from the Wellcome Trust
A model of the double helix, Wellcome Trust

The discovery gave birth to genetic engineering, DNA research, and rapid gene sequencing, spawning the biotechnology industry as we know it today.

5 sight loss research breakthroughs that wouldn’t be possible without DNA discoveries

1. Family trios, The 100k Genome Project

Genome sequencing has enabled ground-breaking projects such as the UK’s 100,000 Genome Project.

In 2012, the UK government launched the 100,000 Genomes project to sequence genomes from around 85,000 NHS patients and their families affected by a rare disease or cancer. It involved using cutting-edge technology to read through the entire 3 billion letters in the human genome.

It will enable doctors to diagnose people with eye conditions sooner and family members who may be at risk. In 2017, Fight for Sight funded researcher Dr Gavin Arno and his team led the eye disease study in the 100,000 Genomes project investigating the genetics of 4,000 people.

Read more about inherited eye diseases.

The researchers looked at family trios to spot rare genetic variants that might explain their conditions. Dr Arno and his team identified new genetic associations with eye diseases and improved diagnosis by 10 to 15%.

His involvement in the 100,000 Genomes project continues.

Read more about Dr Arno’s work

2. Moving closer to a genetic test for myopia

One in 3 people has myopia, and the global prevalence of the condition is expected to rise to 50% by 2050.

Thanks to research funded by Fight for Sight, it will soon be easier to identify children at a high risk of short-sightedness or myopia in later life. A research team led by Professor Jeremy Guggenheim at Cardiff University has developed a genetic test that will identify an increased risk of myopia.

The test holds promise for clinicians seeking to identify children who would benefit most from intensive treatment to delay the onset of short-sightedness.

The team is harnessing information from the UK Biobank Study.

Biobank is an ongoing study investigating the role of genetics and lifestyle in determining the health and well-being of half a million UK adults.

3. Personalised treatment for glaucoma patients

A project jointly funded by Fight for Sight and Glaucoma UK could lead to fresh insights into how a person’s glaucoma (the leading cause of irreversible sight loss) is likely to progress.

It will pave the way for tools to enable more personalised care.

A team led by Dr Anthony Khawaja has developed the Moorfields Glaucoma BioResource.

Dr Anthony Khawaja looking through a lens

The research builds on Dr Khawaja’s previous research identifying more than 100 genetic factors that can influence a person’s susceptibility to glaucoma. This project aimed to bring together genetic and clinical data from 1,000 glaucoma patients that can be used to develop new prediction tools to enable personalised care.

In the UK, about 2% of the population over 40 have glaucoma. 

Global estimates for the number of people with glaucoma in 2020 was 76 million, rising to 111.8 million in 2040 (predicted estimates from 2014). 

Read more about the Moorfields Glaucoma BioResource.

4. RP Genome Project

Fight for Sight helped fund the RP Genome Project led by Retina UK. It is also called the UK Inherited Retinal Dystrophy Genome Project.

Co-ordinated by Professor Black at the University of Manchester, the project brings together the UK's four largest IRD research groups: the University of Leeds, London’s UCL Institute of Ophthalmology, Manchester Royal Eye Hospital and Oxford University Eye Hospital.

Core aims included:

  • Discover new genes involved in inherited retinal dystrophy
  • Develop a confidential database of patients with a known genetic cause to make it easier to recruit for clinical trials
  • Find out how often particular genetic faults happen (with the aim of improving diagnosis)
  • Attract more research funding for IRD

Retina UK Podcast featuring Dr Madina Kara, Director of Research and Innovation

Some of the project’s successes include more capacity for storing, sharing and analysing data (including whole genome information), identifying new disease-causing genes, discovering the genetic basis for disease in over 230 cases, and 17+ academic papers published.

None of this would have been possible without earlier research into Genome sequencing.

Inherited Retinal Disease covers a huge range of conditions. The global prevalence of monogenic IRDs (inherited retinal conditions caused by mutations in a single gene) is 1 in 2000, or approximately 2 million people globally.

5. Investigating genetics underlying inherited corneal disease

Fight for Sight is committed to supporting scientists at every stage of their career, including early career funding. So, we were pleased to have awarded a PhD Studentship to Assistant Professor Alice Davidson, enabling her to explore genetic mutations in some individuals who have Inherited Corneal Disease.

Corneal dystrophy is estimated to affect 0.09% of the population.

Inherited Corneal Disease (ICD) causes the corneal tissue to lose its transparency and/or shape, leading to severe vision loss or even blindness.

The research aims to identify the underlying genetic mutations that cause ICDs and to study how these mutations alter the normal functioning of the corneal tissue. Understanding this is the first step towards developing new therapeutic strategies to target these mutations directly and/or their downstream effects.

The projects we’ve listed are just a handful that builds on early pioneering work into genome sequencing and help us better understand inherited eye diseases.

Fight for Sight, and the researchers we fund are working to save sight and change lives.

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