Choroideremia News and Research

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Adeno-associated virus: The gene therapy revolution faces manufacturing and safety hurdles

Recombinant adeno-associated virus (rAAV)-based genetic applications to treat human diseases.

5 Apr 2024

New technology reveals cellular changes across neural-epithelial-vascular complex in choroideremia

By combining traditional eye imaging techniques with adaptive optics - a technology that enhances imaging resolution - researchers at the National Eye Institute have shown for the first time how cells across different tissue layers in the eye are affected in people with choroideremia, a rare genetic disorder that leads to blindness.

13 Sep 2022

Single-cell-resolution map of retinal pigment epithelium could help develop precise therapies for degenerative diseases

Researchers have identified distinct differences among the cells comprising a tissue in the retina that is vital to human visual perception.

6 May 2022

Rare disease diagnosis by 100,000 genomes pilot

A team of researchers conducted a pilot study that enrolled families and undertook detailed clinical phenotyping of the proband to evaluate the effect of the whole genome sequencing approach on a genetic diagnosis of rare conditions by the NHS in the UK.

12 Nov 2021

Researchers identify new gene variants that may cause inherited retinal dystrophies

An international team of researchers, led by scientists at University of California San Diego and Shiley Eye Institute at UC San Diego Health, has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.

20 Oct 2021

Australian researchers hope to switch on sight with new gene therapy

Australian researchers are developing a new gene therapy which they hope will ‘switch on sight’ by regenerating light-sensing photoreceptor cells in the retina at the back of the eye.

7 Oct 2021

Your Vision Matters: How to Protect Your Eyesight

Dr. Neil Ebenezer from the charity Fight for Sight discusses the steps you can take to protect your eyesight into old age, and why research into ophthalmic diseases is desperately needed.

24 Sep 2018

Eastenders actress supports awareness campaign on importance of eye tests

Leading eye research charity Fight for Sight has found that nearly three in ten British adults don’t follow the NHS recommendation to have an eye test every two years, and that the majority of this group (74%) say that it’s either because they can’t afford it or because they ‘can see fine’.

11 Sep 2018

Rt Hon Baroness Boothroyd launches Fight for Sight campaign to raise awareness of eye health

The Rt Hon Baroness Boothroyd is launching a Fight for Sight campaign to raise awareness of eye health and the need for vital eye research.

1 Aug 2018

New glasses may help expand sight of person with limited peripheral vision

Vision scientists may have discovered how to reduce pedestrian collisions in crowded and chaotic open space environments like bus terminals, shopping malls and city plazas involving individuals with partial blindness.

16 Dec 2016

New drug treatment can override genetic fault that causes choroideremia

Researchers with funding from Fight for Sight have demonstrated that a new drug treatment for cystic fibrosis and Duchenne muscular dystrophy can override a genetic fault that causes choroideremia – a severe blinding disorder.

5 Dec 2016

Researchers start enrolling patients for Phase II gene therapy trial for choroideremia

Following on from a successful world’s first Phase I gene therapy trial for choroideremia, Professor Robert MacLaren and his team at Oxford University and the Oxford Eye Hospital at the John Radcliffe Hospital have started a Phase II trial enrolling 30 patients.

11 Nov 2016

Pioneering gene therapy may lead to potential cure for common causes of vision loss

Pioneering gene therapy has restored some vision to patients with a rare form of genetic blindness for as long as four years, raising hopes it could be used to cure common causes of vision loss, new University of Oxford research published today shows.

29 Apr 2016

Nightstar announces $35 million Series B financing round

NightstaRx Ltd, a biopharmaceutical company specialising in developing gene therapies for inherited retinal dystrophies, announces a $35 million Series B financing round. The round was led by New Enterprise Associates, one of the world's leading venture capital firms.

9 Nov 2015

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

The American Society of Human Genetics (ASHG) has named Robert L. Nussbaum, M.D., chief medical officer of invitae and clinical professor of medicine (volunteer) at the University of California, San Francisco (UCSF); Roderick R. McInnes, CM, M.D., Ph.D., director of the Lady Davis Institute at the Jewish General Hospital and Alva chair in human genetics, Canada Research chair in neurogenetics, and professor of human genetics and biochemistry at McGill University; and Huntington F. Willard, Ph.D., president and director of the Marine Biological Laboratory and professor of human genetics at the University of Chicago; as the 2015 recipients of its annual Award for Excellence in Human Genetics Education.

1 Jul 2015

Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Canada's first human gene therapy trial for eyes -- the replacement of a faulty gene with a healthy one -- is now underway at the Royal Alexandra Hospital to preserve and potentially restore vision for people with a genetic disorder that leaves them blind by middle age.

30 Jun 2015

Choroideremia News and Research

Adeno-associated virus: The gene therapy revolution faces manufacturing and safety hurdles

New technology reveals cellular changes across neural-epithelial-vascular complex in choroideremia

Single-cell-resolution map of retinal pigment epithelium could help develop precise therapies for degenerative diseases

Rare disease diagnosis by 100,000 genomes pilot

Researchers identify new gene variants that may cause inherited retinal dystrophies

Australian researchers hope to switch on sight with new gene therapy

Your Vision Matters: How to Protect Your Eyesight

Eastenders actress supports awareness campaign on importance of eye tests

Rt Hon Baroness Boothroyd launches Fight for Sight campaign to raise awareness of eye health

New glasses may help expand sight of person with limited peripheral vision

New drug treatment can override genetic fault that causes choroideremia

Researchers start enrolling patients for Phase II gene therapy trial for choroideremia

Pioneering gene therapy may lead to potential cure for common causes of vision loss

Nightstar announces $35 million Series B financing round

ASHG declares 2015 recipients of annual Award for Excellence in Human Genetics Education

Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Penn, Spark Therapeutics expand strategic relationship to develop treatment for progressive blindness

Early gene therapy could improve choroideremia prognosis

New gene therapy restores some sight in people born with inherited form of blindness

UK-led technologies set to transform treatments on the NHS

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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