Gene Therapy Labs and Diseases

Gene Therapy Research Labs

These researchers work closely with pediatric neurologists and other disease experts at UT Southwestern to fully understand the clinical implications of gene therapy in the context of the specific disease. This multidisciplinary approach ensures the efficiency and validity of the research and treatments.

Disease Programs

The UT Southwestern Gene Therapy Program mainly focuses on neurodegenerative, neurodevelopmental, and genetic epilepsy disorders. The following lists select diseases that have ongoing research programs in various stages of preclinical development and translational research, along with their lead investigators:

ADSL

Preclinical investigators: Xin Chen, Ph.D.

Adult polyglucosan body disease (APBD)

Preclinical investigators: Berge Minassian, M.D., Felix Nitschke, Ph.D., Mayank Verma, M.D., Ph.D.
Clinical investigators: Berge Minassian, M.D.

Alzheimer’s disease

Preclinical investigators: Rachel Bailey, Ph.D., Ryan Butler, Ph.D., Felix Nitschke, Ph.D.

Angelman syndrome

Preclinical investigators: Ryan Butler, Ph.D., Steven Gray, Ph.D.
Clinical investigators: Susan Iannaccone, M.D.

Aspartyglucosaminuria (AGA)

Preclinical investigators: Steven Gray, Ph.D., Xin Chen, Ph.D.

Charcot-Marie Tooth type 4A (CMT4A)

Preclinical investigators: Xin Chen, Ph.D.

Charcot-Marie Tooth type C (CMT4C)

Preclinical investigators: Steven Gray, Ph.D.
Clinical investigators: Susan Iannaccone, M.D., Kaitlin Batley, M.D.

Charcot-Marie Tooth type 4J (CMT4J)

Preclinical investigators: Steven Gray, Ph.D.
Clinical investigators: Susan Iannaccone, M.D.

CLN1 Batten disease

Preclinical investigators: Steven Gray, Ph.D.
Clinical investigators: Susan Iannaccone, M.D., Saima Kayani, M.D.

CLN5 Batten disease

Preclinical investigators: Steven Gray, Ph.D.
Clinical investigators: Saima Kayani, M.D.
Clinical trials: NCT05228145 (Open at Univ. of Rochester)

CLN7 Batten disease

Preclinical investigators: Steven Gray, Ph.D., Xin Chen, Ph.D.
Clinical investigators: Saima Kayani, M.D., Benjamin Greenberg, M.D.
Clinical trials: NCT04737460 (Open at UTSW)

Contactin-Associated Protein 1 (CNTNP1)

Preclinical investigators: Steven Gray, Ph.D.

Deoxyhypusine Synthase (DHPS)

Preclinical investigators: Steven Gray, Ph.D.

DDX3X syndrome

Preclinical investigators: Xin Chen, Ph.D., Steven Gray, Ph.D.

ECHS1 deficiency

Preclinical investigators: Rachel Bailey, Ph.D.
Clinical investigators: Saima Kayani, M.D.

FIG4, Phosphoinositide 5-Phosphatase

Preclinical investigators: Steven Gray, Ph.D.

Forkhead Box G1 (FOXG1)

Preclinical investigators: Steven Gray, Ph.D.

Fragile X

Preclinical investigators: Steven Gray, Ph.D.

Friedreich’s Ataxia

Preclinical investigators: Ryan Butler, Ph.D., Steven Gray, Ph.D.

FRRS1L epileptic encephalopathy

Preclinical investigators: Berge Minassian, M.D.
Clinical investigators: Berge Minassian, M.D.

Giant axonal neuropathy (GAN)

Preclinical investigators: Steven Gray, Ph.D., Rachel Bailey, Ph.D.
Clinical investigators: Susan Iannaccone, M.D., Kaitlin Batley, M.D.
Clinical trials: NCT02362438 (Open at NIH)

Glycine decarboxylase (GLDC)

Preclinical investigators: Steven Gray, Ph.D.

GM2A deficiency

Preclinical investigators: Steven Gray, Ph.D.

GNAO1 encephalopathy

Preclinical investigators: Xin Chen, Ph.D.

Hexosaminisase (HEXA)

Preclinical investigators: Steven Gray, Ph.D.

Hexosaminisase B (HEXB)

Preclinical investigators: Steven Gray, Ph.D.

Huntington’s Disease

Preclinical investigators: Steven Gray, Ph.D.

KCTD7 progressive myoclonus epilepsy

Preclinical investigators: Berge Minassian, M.D.
Clinical investigators: Berge Minassian, M.D.

Kleefstra syndrome

Preclinical investigators: Steven Gray, Ph.D.

Krabbe disease

Preclinical investigators: Steven Gray, Ph.D.
Clinical investigators: Saima Kayani, M.D.

Lafora disease

Preclinical investigators: Berge Minassian, M.D.
Clinical investigators: Berge Minassian, M.D.
Clinical trials: NCT06609889

Leigh syndrome

Preclinical investigators: Steven Gray, Ph.D.
Clinical investigators: Saima Kayani, M.D.

Lunapark (LNPK)

Preclinical investigators: Xin Chen, Ph.D.

MCT8

Preclinical investigators: Steven Gray, Ph.D.

Monoamine Oxidase A (MAO-A)

Preclinical investigators: Steven Gray, Ph.D.

Mucopolysaccharidosis, Type IIIC (MPS-IIIC)

Preclinical investigators: Xin Chen, Ph.D.
Clinical investigators: Berge Minassian, M.D., Lauren Sanchez, M.D.

Multiple sulfatase deficiency (MSD)

Preclinical investigators: Rachel Bailey, Ph.D., Steven Gray, Ph.D.
Clinical investigators: Susan Iannaccone, M.D., Kaitlin Batley, M.D.

Myocyte Enhancer Factor 2C (MEF2C)

Preclinical investigators: Xin Chen, Ph.D.

N-Alpha-Acetyltransferase 10 (NAA10)

Preclinical investigators: Steven Gray, Ph.D.

NK6 Homeobox 2 (NKX6.2)

Preclinical investigators: Xin Chen, Ph.D.

Non-ketonic hyperglycinemia (NKH)

Preclinical investigators: Steven Gray, Ph.D.

Peroxisome biogenesis disorders

Preclinical investigators: Ryan Butler, Ph.D.
Clinical investigators: Saima Kayani, M.D.

Pitt-Hopkins

Preclinical investigators: Steven Gray, Ph.D.

Pompe disease

Preclinical investigators: Berge Minassian, M.D., Mayank Verma, M.D., Ph.D.
Clinical investigators: Berge Minassian, M.D.

Pontocerebellar hypoplasia, Type 2 (PCH2)

Preclinical investigators: Berge Minassian, M.D.

Prader-Willi syndrome

Preclinical investigators: Ryan Butler, Ph.D.

Progressive supranuclear palsy

Preclinical investigators: Rachel Bailey, Ph.D.

Proteolipid Protein 1 (PLP1)

Preclinical investigators: Steven Gray, Ph.D.

Purine-rich element-binding protein A (PURA)

Preclinical investigators: Steven Gray, Ph.D.

Pyruvate Dehydrogenase E1, Subunit Alpha-1 (PDHA1)

Preclinical investigators: Xin Chen, Ph.D.

SLC6A1-related disorder

Preclinical investigators: Steven Gray, Ph.D.
Clinical investigators: Dallas Armstrong, M.D.

Spastic paraplegia, type 2 (SPG2)

Preclinical investigators: Jonathan Rios, Ph.D., Steven Gray, Ph.D.

Spastic paraplegia, type 50 (SPG50)

Preclinical investigators: Steven Gray, Ph.D., Xin Chen, Ph.D.
Clinical investigators: Susan Iannaccone, M.D.

Spastic paraplegia, type 51 (SPG51)

Preclinical investigators: Steven Gray, Ph.D.

Spastic paraplegia, type 54 (SPG54)

Preclinical investigators: Jonathan Rios, Ph.D., Steven Gray, Ph.D.

Spastic paraplegia, type 50 (SPG75)

Preclinical investigators: Steven Gray, Ph.D.

Spinal Muscular Atrophy (SMA)

Preclinical investigators: Steven Gray, Ph.D.

Steroid 5α-reductase 3 deficiency (SRD5A3)

Preclinical investigators: Steven Gray, Ph.D., Xin Chen, Ph.D.

Striatonigral Degeneration, Childhood-Onset (SNDC)

Preclinical investigators: Jonathan Rios, Ph.D., Steven Gray, Ph.D.

Sulfatase-modifying factor 1 (SUMF1)

Preclinical investigators: Steven Gray, Ph.D.

Surfeit 1 (SURF1)

Preclinical investigators: Steven Gray, Ph.D.
Clinical investigators: Saima Kayani, M.D.

Tauopathies

Preclinical investigators: Rachel Bailey, Ph.D.

TBC1 Domain-containing Kinase (TBCK)

Preclinical investigators: Xin Chen, Ph.D.

Tectonin Beta-propeller repeat-containing protein 2 (TECPR2)

Preclinical investigators: Xin Chen, Ph.D.
Clinical investigators: Susan Iannaccone, M.D., Kaitlin Batley, M.D.

tRNA splicing endonuclease, subunit 54 (TSEN54)

Preclinical investigators: Berge Minassian, M.D.

Unverricht-Lundborg disease

Preclinical investigators: Berge Minassian, M.D., Mayank Verma, M.D., Ph.D.
Clinical investigators: Berge Minassian, M.D.

VAC14

Preclinical investigators: Steven Gray, Ph.D.

X-linked adrenoleukodystrophy (ABCD1 gene)

Preclinical investigators: Ryan Butler, Ph.D.