New Genetic Diagnostic Technique Allows Faster and More Accurate Diagnosis of Rare Diseases

New Genetic Diagnostic Technique Allows Faster and More Accurate Diagnosis of Rare Diseases

A team of scientists at Aarhus University has developed a groundbreaking new technique using CRISPR activation (CRISPRa) technology, which enables a faster and more efficient diagnosis of rare genetic diseases. This innovative approach activates genes in readily accessible cells, such as skin or blood, to determine if messenger RNA (mRNA) is correctly assembled. By doing so, the researchers are able to identify whether a particular gene variant is causing the patient’s disease.

Previously, diagnosing rare genetic diseases posed significant challenges due to the inactivity of disease-associated genes in easily accessible tissues. However, with the use of CRISPR activation, specific genes can now be turned on in their natural environment without the need for gene modification in cell models. This means that a simple sample from the patient can provide valuable insights, making the diagnostic process much faster and more accessible.

The team of researchers successfully activated the myelin protein zero (MPZ) gene, expressed in Schwann cells of the peripheral nerves, as well as the spastin gene (SPAST), mostly expressed in the central nervous system (CNS). The CRISPRa technique effectively upregulated the transcription of these genes in skin cells, allowing for accurate splice variant profiling.

One of the main challenges in diagnosing rare genetic diseases lies in their complex and elusive nature. These diseases can stem from a wide range of rare genetic variants, unique to each individual patient. Before the emergence of this new technique, extensive genetic analyses and comparisons with known disease patterns were required, often leading to delays in diagnosis and treatment.

The hope is that this new method will revolutionize the field of genetic diagnostics, providing more effective and accurate diagnoses for patients with rare diseases. Dr. Thorkild Terkelsen, co-author of the study, expressed optimism about the future applications of this technique in clinical settings. The researchers aim to validate a larger panel of genes and make further adjustments to enhance the ease of use and expand its diagnostic capabilities.

Published in The American Journal of Human Genetics, this study marks a significant advancement in the field of genetic diagnostics. Through the utilization of CRISPRa technology, the researchers have paved the way for a new era in diagnosing rare genetic diseases, offering hope to patients and medical professionals alike.

FAQ:

Q1: What is CRISPR activation (CRISPRa) technology?
A1: CRISPR activation (CRISPRa) technology is a groundbreaking technique developed by scientists at Aarhus University. It activates genes in easily accessible cells, such as skin or blood, to determine if messenger RNA (mRNA) is correctly assembled. This enables a faster and more efficient diagnosis of rare genetic diseases.

Q2: How does CRISPR activation help in diagnosing rare genetic diseases?
A2: CRISPR activation allows specific genes to be turned on in their natural environment without the need for gene modification in cell models. This means that a simple sample from the patient can be used to identify whether a particular gene variant is causing the disease.

Q3: What were the challenges in diagnosing rare genetic diseases before CRISPR activation?
A3: The inactivity of disease-associated genes in easily accessible tissues made it difficult to diagnose rare genetic diseases. Extensive genetic analyses and comparisons with known disease patterns were required, leading to delays in diagnosis and treatment.

Q4: How does the CRISPRa technique work in this study?
A4: The team of researchers successfully activated the myelin protein zero (MPZ) gene, expressed in Schwann cells of the peripheral nerves, and the spastin gene (SPAST), mostly expressed in the central nervous system (CNS). The CRISPRa technique effectively upregulated the transcription of these genes in skin cells, allowing for accurate splice variant profiling.

Q5: What are the future applications of this CRISPRa technique?
A5: The hope is that this new CRISPRa technique will revolutionize the field of genetic diagnostics, providing more effective and accurate diagnoses for patients with rare diseases. The researchers aim to validate a larger panel of genes and make further adjustments to enhance the ease of use and expand its diagnostic capabilities.

Definitions:

– CRISPR activation (CRISPRa) technology: A groundbreaking technique that activates genes in easily accessible cells to determine if messenger RNA (mRNA) is correctly assembled.
– Messenger RNA (mRNA): A type of RNA that carries genetic information from the DNA to the ribosome, where it is used to synthesize proteins.
– Gene variant: A specific version of a gene that may differ from the most common form and contribute to a particular disease or trait.
– Transcription: The process by which genetic information in DNA is copied into messenger RNA.

Related links:

link to nature.com – CRISPR gene editing explained
link to nih.gov – How does CRISPR gene editing work?
link to genome.gov – Gene Editing

All Rights Reserved 2021
| .
Privacy policy
Contact