Health

Infants should have a complete genome sequence for rare diseases

Newborn Infants Will take the whole Genome sequence Help research Rare genetic conditions have been reported.

Millions of people Rare diseases Under the new government plan, they will receive new treatment and a faster diagnosis.

The government said that on Sunday evening, healthy newborns will receive the full genome sequence as part of a pilot study to test the rare genetic condition of newborns.

Healthcare professionals will gain access to a digital tool called “Genotes” that will allow them to quickly get information about rare diseases.

There are more than 7,000 rare diseases affecting around 3.5 million people in the UK and the government plans to improve how they fight the diseases.

In parallel with the plan, the government has announced 40 40 million in new funding for the National Institutes of Health’s bioresource to support their work in diagnosing and understanding rare diseases.

Health and Social Welfare Secretary Sajid Javid said: “This action plan will speed up diagnoses and care and enable our fantastic workforce to better assist patients based on the UK’s leading science and technology.

“I am committed to improving our healthcare system so that everyone, regardless of their condition, can receive treatment tailored to their needs.”

The government will pilot new approaches to caring for the undiagnosed rare conditions and improve patient care education.

It also seeks to support rapid access to drugs and develop a strategic approach to gene therapy.

Nick Mead, UK’s director of policy for the Genetic Alliance, said: “The voice of our community has been heard more than ever in the development of this plan.

“This collaboration has helped us see how well these priorities of diagnosis, awareness, coordination and care can be combined to have a greater impact on them than the sum of their parts.”

“We are pleased to move into the implementation phase and see real improvement for people living in rare conditions.

Professor Lucy Chapel, Executive Director of the National Institutes of Health Research, said: “About one in 17 people will develop a rare disease at some point in their lives, so although they are rare individually, these diseases affect a significant proportion of the disease. Population.

“The work of the NIHR BioResource has already facilitated the production of truly important discoveries, such as the 100,000 Genome Project, and today’s significant new investment will ensure it stays on the cutting edge of understanding rare diseases and helping people who have them. ”

Infants should have a complete genome sequence for rare diseases

Source link Infants should have a complete genome sequence for rare diseases

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