Consultant, Molecular Haematology & Oncology, Fortis Memorial Research Institute, Gurugram
Part 8 of 9 in Genomics Revolution in Cancer
Gene Therapy and Genome Editing: From Sickle Cell Anaemia to CRISPR
January 19, 2025
Editing a Single Genetic Error
Sickle cell anaemia is caused by a point mutation, a single letter change in the genome. Gene therapy aims to correct that error directly: the faulty letter is edited back to normal and delivered to the patient through an intravenous infusion, allowing the corrected gene to integrate so the disease can resolve.
CRISPR-Cas9 and What It Can Already Do
CRISPR-Cas9 is the gene-editing technology behind this approach. Researchers have used it to edit the gene responsible for type 1 diabetes mellitus and deliver the correction back to the patient. The same underlying principle is being researched for haemophilia, an inherited bleeding disorder in which affected patients are typically male, while female carriers usually do not have the disease themselves but can pass the abnormal gene on to their children.
Still Mostly in Clinical Trials
Gene therapy remains largely confined to clinical trials rather than routine care, and it is not yet available in every country. Dr. Nathany was direct about this limitation: the science works in principle, but access remains the practical constraint.
This guide is based on a live Jivo Masterclass: Dr. Shrinidhi Nathany taught doctors across Africa on January 19, 2025.
FROM THE LIVE Q&A
Moderator
Can we do genomic modifications to prevent cancer?
Dr. Shrinidhi Nathany
Well, not yet. What we can do is, supposing somebody in my family got cancer, I can get my genes tested so I know whether I am at risk of getting that cancer, and then I can try to catch it early, because once you're at a last stage it becomes difficult to cure. If you catch it early you can still cure the cancer.
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Frequently Asked Questions
What are the common tumour marker genes tested for routinely?▼
The recommendation is to test at least 50 genes. If somebody is interested I can send the list across to the Jivo team and they can share it with everybody.
Is it possible to combine genes from three people to get the desired characteristics of a baby?▼
Yes, that is what is called designer babies, which can be done. You cannot really extract only particular genes, but you can make designer babies now in the lab through clinical embryology.
I didn't understand well the difference between genetics and genomics. Based on which examination or test can we know genetic and genomic compatibility?▼
The difference between genetics and genomics: you are a clinician, you are seeing the patient. What you see in the patient is genetics. What I do in the lab is genomics.
What test is used for [pre-marital] compatibility genomics?▼
It is called genome sequencing.
How did the robot help in the testing process?▼
The robot helps us prepare the sample inside the machine and helps us detect which gene is there.
What causes sickle cell anaemia?▼
A point mutation, a single letter change in the genome, which gene therapy aims to correct directly.
What is CRISPR-Cas9?▼
A gene-editing technology that can locate and correct a specific error in the genome, used in research including editing the gene responsible for type 1 diabetes mellitus.
Is gene therapy already standard treatment?▼
Not yet. It remains largely confined to clinical trials and is not available in every country.
In This Series: Genomics Revolution in Cancer
- 1.Genomics Revolution in Cancer
- 2.Germline Versus Somatic Testing: The Two Pillars of Genomic Testing
- 3.How Genomic Sequencing Changed Precision Medicine in Stage 4 Lung Cancer
- 4.Hereditary Cancer Risk: BRCA, HBOC Syndrome and the Case for Family Testing
- 5.Pharmacogenomics: How Genes Shape Drug Response and Side Effects
- 6.Liquid Biopsy for Cancer Screening: What's Proven and What's Still Under Research
- 7.Inside Next Generation Sequencing: How Genomic Testing Actually Works
- 8.Gene Therapy and Genome Editing: From Sickle Cell Anaemia to CRISPR
- 9.Genomics Beyond Cancer: Cardiology, Neurology and Pre-Marital Screening