With huge funding a British research program to monitor and treat genetic diseases

With huge funding a British research program to monitor and treat genetic diseases The United Kingdom intends to implement a research project with a budget of 105 million pounds sterling, concerned with monitoring genetic diseases and how to treat them. The study will include a wide range of different origins.  The United Kingdom announced on Tuesday an unprecedented research program aimed at better monitoring and treatment of genetic diseases, during which the genomes of 100,000 infants will be tracked, starting from the end of next year.  The £105 million ($129.1 million) program aims to determine whether similar genome sequencing should be deployed in the country during routine newborn check-ups, so as not to waste years diagnosing rare diseases.  The study deals with about two hundred diseases that annually affect three thousand infants in the United Kingdom.  "We will look specifically at early childhood diseases that can be treated," said Rich Scott, medical director at Genomics England, part of the British Ministry of Health.  Among these diseases is biotinidase deficiency, which is a genetic disease that affects the body's interaction with the vitamin biotin.  "If a child takes this vitamin, he won't have any problems" associated with the disease, which can lead to serious neurological disorders, said David Beck, one of the program's leaders.  He continued, "We want to reduce the incidence of diseases in children, not wait for them to occur in order to treat them."  In addition to the potential benefits and risks, public opinion will be considered regarding "storing the child's genome data during their lifetime, for reuse ... in the future, in predicting, diagnosing or treating diseases in the event that children become infected later on," according to Rich Scott.  Scott explained that the selection of participants in the program will start at the end of 2023 and will last for two years, stressing that the program is the largest study of its kind in the world.  The researchers intend to select a large group of participants from different backgrounds who do not necessarily have any prior disease risk.  Amanda Piccini, clinical trial lead for genetic issues at Genomics England, explained that the criteria for selecting participants in the program "means that a large number of the parents we come in contact with will not have prior knowledge of any genetic disease ... in their family."  In the end, if the trials are successful, the whole genome of the children will be collected, along with tests administered through newborn injections, which aim to monitor nine rare and dangerous diseases in children.  "If we can detect treatable diseases at an early stage and make cures available to patients quickly, we can improve the lives of people across the country," Health Secretary Steve Barclay said in a statement.  The Ministry highlighted a public referendum, the results of which were published in July 2021, in which it was clear that there was support for the use of genome sequencing in newborns, if important safeguards were found.  Two other research programs were also announced, one of which has been allocated £22 million ($27.04 million) in funding, and aims to track the genomes of up to 25,000 participants of non-European origin who are “underrepresented” in research. .  The Ministry of Health confirmed that the program aims to better understand DNA and its “impact on health problems,” and help “reduce prevailing inequalities in health issues and improve patient care” in different societies.  The second program, which has seed funding of £26 million ($31.96 million), is to assess genome sequencing to improve accuracy and speed in diagnosing cancers.  In total, the government has announced £175 million (more than $215.08 million) for genome-related research.

The United Kingdom intends to implement a research project with a budget of 105 million pounds sterling, concerned with monitoring genetic diseases and how to treat them. The study will include a wide range of different origins.

The United Kingdom announced on Tuesday an unprecedented research program aimed at better monitoring and treatment of genetic diseases, during which the genomes of 100,000 infants will be tracked, starting from the end of next year.

The £105 million ($129.1 million) program aims to determine whether similar genome sequencing should be deployed in the country during routine newborn check-ups, so as not to waste years diagnosing rare diseases.

The study deals with about two hundred diseases that annually affect three thousand infants in the United Kingdom.

"We will look specifically at early childhood diseases that can be treated," said Rich Scott, medical director at Genomics England, part of the British Ministry of Health.

Among these diseases is biotinidase deficiency, which is a genetic disease that affects the body's interaction with the vitamin biotin.

"If a child takes this vitamin, he won't have any problems" associated with the disease, which can lead to serious neurological disorders, said David Beck, one of the program's leaders.

He continued, "We want to reduce the incidence of diseases in children, not wait for them to occur in order to treat them."

In addition to the potential benefits and risks, public opinion will be considered regarding "storing the child's genome data during their lifetime, for reuse ... in the future, in predicting, diagnosing or treating diseases in the event that children become infected later on," according to Rich Scott.

Scott explained that the selection of participants in the program will start at the end of 2023 and will last for two years, stressing that the program is the largest study of its kind in the world.

The researchers intend to select a large group of participants from different backgrounds who do not necessarily have any prior disease risk.

Amanda Piccini, clinical trial lead for genetic issues at Genomics England, explained that the criteria for selecting participants in the program "means that a large number of the parents we come in contact with will not have prior knowledge of any genetic disease ... in their family."

In the end, if the trials are successful, the whole genome of the children will be collected, along with tests administered through newborn injections, which aim to monitor nine rare and dangerous diseases in children.

"If we can detect treatable diseases at an early stage and make cures available to patients quickly, we can improve the lives of people across the country," Health Secretary Steve Barclay said in a statement.

The Ministry highlighted a public referendum, the results of which were published in July 2021, in which it was clear that there was support for the use of genome sequencing in newborns, if important safeguards were found.

Two other research programs were also announced, one of which has been allocated £22 million ($27.04 million) in funding, and aims to track the genomes of up to 25,000 participants of non-European origin who are “underrepresented” in research. .

The Ministry of Health confirmed that the program aims to better understand DNA and its “impact on health problems,” and help “reduce prevailing inequalities in health issues and improve patient care” in different societies.

The second program, which has seed funding of £26 million ($31.96 million), is to assess genome sequencing to improve accuracy and speed in diagnosing cancers.

In total, the government has announced £175 million (more than $215.08 million) for genome-related research.
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