Over 200 Rare Diseases to be Included in Genomics England Research Study

Genomics is revolutionizing healthcare processes, offering the potential to enhance the lives of numerous individuals by enabling the early detection of treatable disorders and providing lifesaving therapies.

Every year, thousands of children born in the UK are affected by rare disorders that can be identified through genome sequencing. Early intervention has been proven to be essential in helping these young children live longer and healthier lives.

The List of 200 Rare Conditions

This month, Genomics England published a catalog of over 200 rare conditions under consideration for inclusion in its 100,000 Genome Study, scheduled to commence in NHS hospitals in early 2024.

Genomics England, a British company owned by the UK Department of Health, is responsible for overseeing this project. The 2024 project’s objective is to sequence the genomes of NHS patients with rare diseases and their families, including patients with cancer.

Genomics England is a British company established and owned by the UK Department of Health and Social Care to manage the 100,000 Genomes Project. The project, set to launch in 2024, aims to sequence the genomes of 100,000 NHS patients with rare diseases, along with their families, as well as patients with cancer.

Researchers associated with the project intend to determine whether sequencing the genomes of newborns could facilitate the early detection of rare diseases. Their goal is to analyze the DNA of more than 100,000 babies, accumulating sufficient evidence to assess the feasibility of future newborn screening through whole genome sequencing.

About Whole Genome Sequencing

The human genome comprises an individual’s DNA and genetic information. A laboratory can decipher a person’s DNA using a DNA sequencer machine, a scientific instrument capable of identifying the sequence of the four bases (GCAT).

The initial list comprises 223 conditions resulting from genetic alterations in over 500 genes. As known, genes contain DNA, and their coding guides cell development. When a gene or group of genes undergoes mutation, the outcome is a genetic disease or birth defect.

To compile the list, Genomics England, in collaboration with NHS experts, established four key principles after evaluating over 900 genes. The company sought input from healthcare professionals, scientists, the public, and individuals with rare conditions.

The list includes conditions that typically manifest in children under five years of age and can be treated with NHS England interventions when detected early.

The study is expected to identify 500 to 1,000 diagnoses among 100,000 babies. Those found to have a rare condition will receive necessary support and care.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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