Genetic editing to cure rare disease explained | 101 in 101

Summary

Petros Giannikopoulos, Principal Investigator at UC Berkeley’s Innovative Genomics Institute, discusses on-demand CRISPR therapies. He explains how CRISPR technology is used to correct genetic mutations causing diseases. Highlighting a groundbreaking case, a therapy was developed for a child with a specific genetic disorder in record time. The therapy, aimed at fixing a faulty gene, exemplifies precision medicine. Giannikopoulos emphasizes the transformative potential of CRISPR in treating rare inherited genetic diseases, marking a major step forward in personalized medicine that could impact millions globally.

Takeaways

• 😀 On-demand CRISPR therapy is a groundbreaking approach that allows for personalized genetic treatments.
• 😀 The therapy is designed and fabricated specifically for individual patients, targeting their unique genetic conditions.
• 😀 CRISPR technology, co-invented by Professor Doudna at UC Berkeley, utilizes a bacterial immune system to edit DNA.
• 😀 The goal of on-demand CRISPR therapy is to correct genetic mutations causing diseases in patients.
• 😀 A real-world example involved developing a CRISPR therapy to target a child's specific genetic mutation, which had been diagnosed at birth.
• 😀 This particular therapy was developed in record time, with the FDA granting permission for its use within six to seven months of diagnosis.
• 😀 The therapy aims to correct a typo in the genetic code that prevents the production of a necessary enzyme, CPS-1, in the child’s cells.
• 😀 In addition to correcting the genetic mutation, the therapy also had to demonstrate its safety for the patient.
• 😀 There are approximately 7,000 to 8,000 rare inherited genetic disorders, and CRISPR therapy has the potential to address the root cause of many of these conditions.
• 😀 On-demand CRISPR therapies represent a form of precision medicine, offering targeted solutions tailored to individual patients.
• 😀 The development of these therapies could transform the lives of millions by offering treatments for previously untreatable genetic diseases.

Q & A

What is an on-demand CRISPR therapy?

An on-demand CRISPR therapy involves designing and fabricating a personalized therapy for an individual patient. It is used to correct specific genetic mutations causing diseases in that patient.

Who co-invented the CRISPR technology used for genetic editing?

Professor Jennifer Doudna at UC Berkeley was the co-inventor of the strategy that uses the bacterial immune system to edit or change the genetic code of DNA.

How does CRISPR therapy work to correct genetic mutations?

CRISPR therapy targets and corrects specific genetic mutations, or 'typos' in the genetic code, that cause diseases, restoring normal function to the affected genes or proteins.

Can you give an example of how CRISPR therapy was used?

One example is a therapy developed for a child born with a specific genetic mutation. The therapy was designed to target and correct the mutation in the child's DNA that prevented proper protein breakdown.

How quickly was the CRISPR therapy administered to the child?

The therapy was administered in record-breaking time, with the collective team receiving FDA approval just six to seven months after the child's diagnosis at birth.

What is precision medicine in the context of CRISPR?

Precision medicine refers to therapies that are specifically designed for an individual patient, tailored to their unique genetic makeup, like the CRISPR therapy developed for the child in the example.

What genetic issue did the child in the example have?

The child had two faulty copies of the CPS-1 gene, which caused their cells to be unable to break down proteins properly.

What was the aim of the CRISPR therapy for this child?

The aim of the therapy was to restore the function of the faulty CPS-1 gene by correcting the genetic mutation, allowing the child’s cells to produce the necessary enzyme for protein breakdown.

Why was safety a critical consideration in this therapy?

Safety was crucial to ensure that the CRISPR intervention would not cause unintended side effects or harm, in addition to correcting the genetic mutation in the child.

How many rare inherited genetic disorders are there, and how does CRISPR therapy address them?

There are approximately 7,000 to 8,000 rare inherited genetic disorders. CRISPR therapy offers the potential to not only diagnose these conditions but also directly target and treat the genetic causes, offering hope for effective treatments.