What Gene Editing Can Fix

Progressive neurodegenerative disorder caused by CAG repeat expansion in the HTT gene. CRISPR approaches aim to silence or excise the mutant huntingtin protein.

Fatal motor neuron disease. SOD1 mutations account for ~20% of familial ALS. Gene editing aims to knock down toxic SOD1 protein production.

Most common cause of dementia. Research explores converting the high-risk APOE4 allele to the neutral APOE3 variant using base editing.

Neurodevelopmental disorder caused by loss of maternal UBE3A expression. CRISPRa aims to reactivate the silenced paternal copy of UBE3A.

RPE65 mutations cause severe vision loss from birth. Luxturna delivers a functional RPE65 gene directly to retinal cells, restoring vision.

Severe childhood blindness caused by CEP290 mutations. EDIT-101 is the first in vivo CRISPR therapy, delivered directly to photoreceptor cells.

Leading cause of blindness in older adults. Gene editing disrupts VEGFA in the retina to reduce abnormal blood vessel growth.

Misfolded TTR protein deposits in the heart causing heart failure. NTLA-2001 is the first in vivo CRISPR therapy, using lipid nanoparticles to edit TTR in the liver.

Dangerously high LDL cholesterol from birth. VERVE-101 uses base editing to permanently turn off PCSK9 in the liver — a one-time injection to replace lifelong statins.

Thickened heart muscle that can cause sudden cardiac death. Preclinical work targets correction of MYBPC3 mutations that cause ~40% of HCM cases.

Thick mucus buildup in lungs due to CFTR mutations. Gene editing aims to correct the underlying mutation, especially the common F508del variant.

Liver produces defective AAT protein, leading to lung and liver damage. Gene editing approaches correct the SERPINA1 mutation or boost normal AAT production.

Misfolded TTR protein damages peripheral nerves. The same liver-targeted CRISPR approach (NTLA-2001) reduces TTR production to halt nerve damage progression.

Liver overproduces oxalate, causing kidney stones and kidney failure. Gene editing targets the HAO1 or LDHA genes to block oxalate synthesis.

Episodic severe swelling due to excess kallikrein. NTLA-2002 uses in vivo CRISPR to knock out KLKB1 in the liver, eliminating swelling attacks.

Copper accumulation due to defective ATP7B transporter causes liver and brain damage. Gene editing aims to restore normal copper metabolism.

The first FDA-approved CRISPR therapy. Edits BCL11A in patient's own stem cells to reactivate fetal hemoglobin, preventing sickle cell crises.

Reduced hemoglobin production requiring lifelong blood transfusions. Casgevy eliminates transfusion dependence by boosting fetal hemoglobin.

Missing clotting factor VIII causes uncontrolled bleeding. Roctavian delivers a functional F8 gene via AAV5 to the liver for sustained factor production.

Missing clotting factor IX. Hemgenix delivers a high-activity F9 variant via AAV5, with a single dose providing years of bleed protection.

Loss of SMN1 causes motor neuron death. Zolgensma, given as a single IV infusion to infants, delivers a functional SMN1 gene. One of the most expensive drugs ever at $2.1M.

Deficiency of alpha-galactosidase A causes lipid buildup in kidneys, heart, and nervous system. Gene therapy aims to provide lasting enzyme production.

Fluid-filled cysts destroy kidney tissue over decades. Early research explores correcting PKD1 mutations to prevent cyst formation.

Progressive muscle wasting from dystrophin loss. Elevidys delivers a shortened but functional micro-dystrophin gene. Additional CRISPR exon-skipping approaches in Phase 1.

CRISPR-based exon skipping approach to restore the dystrophin reading frame. HuidaGene's HG302 is in Phase 1 trials in China.

CTG repeat expansion in DMPK causes multi-system muscle disease. CRISPR approaches aim to excise or shorten the toxic repeat expansion.

CRISPR-engineered donor T-cells targeting CD19 on cancer cells. Gene editing removes MHC to prevent rejection, enabling off-the-shelf CAR-T therapy.

Base editing creates allogeneic CAR-T cells targeting CD7. Multiple edits prevent fratricide and graft-vs-host disease.

CAR-T cells depleting autoreactive B-cells have shown remarkable remission in severe lupus. A potential cure for refractory autoimmune disease.

Triple-guide CRISPR therapy excises integrated HIV proviral DNA from host cells. Aims to achieve a functional cure by eliminating the viral reservoir.

Fragile skin that blisters from minor friction due to missing collagen VII. Gene-corrected skin grafts using CRISPR are being developed.

Painful thickened nails and calluses from keratin mutations. Allele-specific silencing targets only the mutant keratin copy.

Gene-edited stem cells differentiated into insulin-producing beta cells, engineered to evade immune rejection. Could eliminate the need for insulin injections.

Inability to release glucose from glycogen causes life-threatening hypoglycemia. Base editing aims to correct the G6PC point mutation in liver cells.

Carriers of one sickle cell allele can pass the disease to children. Research explores gene correction in embryos, though this remains ethically debated and heavily regulated.