# Huda Y. Zoghbi
**Huda Yahya Zoghbi** is a Lebanese-born American neurogeneticist whose laboratory found that mutations in the gene MECP2 cause [Rett syndrome](https://www.edgepedia.org/rett-syndrome) and who identified the gene underlying spinocerebellar ataxia type 1 (SCA1). She is a professor of molecular and human genetics at [Baylor College of Medicine](https://www.edgepedia.org/baylor-college-of-medicine), a [Howard Hughes Medical Institute](https://www.edgepedia.org/howard-hughes-medical-institute) (HHMI) investigator, and the founding director of the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, where she also serves as Research-in-Chief.[1](https://www.bcm.edu/people-search/huda-zoghbi-33774) • [2](https://www.texaschildrens.org/about-us/our-leadership/huda-y-zoghbi-md) Her recognitions include the 2022 Kavli Prize in Neuroscience and the 2022 Elaine Redding Brinster Prize in Science or Medicine.[1](https://www.bcm.edu/people-search/huda-zoghbi-33774)
| Key facts | |
|---|---|
| Field | Neurogenetics: genes and mechanisms underlying brain development and degeneration[3](https://www.kavliprize.org/bio/huda-y-zoghbi) |
| Training | BS, American University of Beirut, 1976; MD, Meharry Medical College, 1979; residencies and molecular genetics fellowship at Baylor College of Medicine[1](https://www.bcm.edu/people-search/huda-zoghbi-33774) • [2](https://www.texaschildrens.org/about-us/our-leadership/huda-y-zoghbi-md) |
| Positions | Baylor faculty since 1988; HHMI investigator since 1996; founding director, Duncan NRI, since 2010; Research-in-Chief, Texas Children's Hospital[2](https://www.texaschildrens.org/about-us/our-leadership/huda-y-zoghbi-md) • [4](https://www.hhmi.org/scientists/huda-y-zoghbi) |
| Signature work | 1999 Nature Genetics report identifying MECP2 mutations as the cause of Rett syndrome[5](https://www.thetransmitter.org/spectrum/the-1999-rett-syndrome-paper/); discovery that a CAG trinucleotide repeat expansion causes SCA1 (1993)[6](https://www.dicksonprize.pitt.edu/past-recipients/huda-y-zoghbi-md/); ["A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration"](https://doi.org/10.1016/j.cell.2006.03.032), *Cell*, 2006 |
| MECP2 discovery | 1999: MECP2 mutations identified as the cause of Rett syndrome after a 16-year search[5](https://www.thetransmitter.org/spectrum/the-1999-rett-syndrome-paper/) • [7](https://www.gairdner.org/winner/huda-y-zoghbi) |
| SCA1 discovery | 1993: CAG trinucleotide repeat expansion identified as the cause of SCA1[6](https://www.dicksonprize.pitt.edu/past-recipients/huda-y-zoghbi-md/) |
| Major honors | Kavli Prize (2022), Brinster Prize (2022), Breakthrough Prize (2017), Brain Prize (2020), Canada Gairdner International Prize, Shaw Prize (2016), Gruber Prize (2011)[1](https://www.bcm.edu/people-search/huda-zoghbi-33774) • [8](https://www.kavliprize.org/prizes/neuroscience/2022) • [9](https://www.nasonline.org/directory-entry/huda-y-zoghbi-xts8bq/) |
## Early life and medical training
Zoghbi was born in Lebanon and attended the [American University of Beirut](https://www.edgepedia.org/american-university-of-beirut) until 1976, when civil war broke out; she moved to the United States to continue medical school and graduated from [Meharry Medical College](https://www.edgepedia.org/meharry-medical-college) in Nashville in 1979.[3](https://www.kavliprize.org/bio/huda-y-zoghbi) She completed a pediatric residency and a [pediatric neurology](https://www.edgepedia.org/pediatric-neurology) residency at Baylor College of Medicine in 1985, then took a postdoctoral fellowship in molecular genetics in Art Beaudet's laboratory there.[2](https://www.texaschildrens.org/about-us/our-leadership/huda-y-zoghbi-md) In 1985 she established her own research laboratory focused on identifying the genes and mechanisms underlying brain development and degeneration.[3](https://www.kavliprize.org/bio/huda-y-zoghbi)
## Career record
Zoghbi joined Baylor's faculty as an assistant professor in 1988 and has been an HHMI investigator since 1996.[2](https://www.texaschildrens.org/about-us/our-leadership/huda-y-zoghbi-md) • [4](https://www.hhmi.org/scientists/huda-y-zoghbi) According to *The Journal of Clinical Investigation*, in 2010 she founded the Duncan NRI at [Texas Children's Hospital](https://www.edgepedia.org/texas-childrens-hospital), which opened in late 2010; under her direction it has grown to more than 43 principal investigators and over 400 research trainees.[2](https://www.texaschildrens.org/about-us/our-leadership/huda-y-zoghbi-md) • [10](https://www.jci.org/articles/view/60154) She also serves as Research-in-Chief of Texas Children's Hospital.[2](https://www.texaschildrens.org/about-us/our-leadership/huda-y-zoghbi-md)
## Representative work
- The 1999 [Nature Genetics](https://www.edgepedia.org/nature-genetics) report pinpointing six de novo mutations (four missense, one nonsense, and one frameshift) in the MECP2 gene as the cause of Rett syndrome.[5](https://www.thetransmitter.org/spectrum/the-1999-rett-syndrome-paper/)
- The identification of ATAXIN1 as the gene underlying spinocerebellar ataxia type 1.[8](https://www.kavliprize.org/prizes/neuroscience/2022)
- *Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction*, Neuron, 2024, showing that upon loss of MeCP2 hundreds of genes are dysregulated in both directions and that these changes precede neurological dysfunction in adult mice.[11](https://www.cell.com/neuron/fulltext/S0896-6273(24)00806-7)
Two discoveries anchor her reputation. According to her Dickson Prize biography, in 1985 she began work on the spinocerebellar ataxias after meeting an affected family in rural Montgomery, Texas; in 1993 she found that expansion of a CAG trinucleotide repeat causes SCA1, and her subsequent studies showed that the expanded polyglutamine tract leads the mutant protein to accumulate in neurons.[6](https://www.dicksonprize.pitt.edu/past-recipients/huda-y-zoghbi-md/) • [9](https://www.nasonline.org/directory-entry/huda-y-zoghbi-xts8bq/) The CAG repeat size is inversely correlated with age of disease onset.[8](https://www.kavliprize.org/prizes/neuroscience/2022) Her lab also found that a 30–50% increase in wild-type ataxin-1 causes cerebellar degeneration and ataxia in mice, making lowering ataxin-1 a viable therapeutic strategy.[1](https://www.bcm.edu/people-search/huda-zoghbi-33774) In neurodevelopment, her work identified the gene Math1/Atoh1, which governs development of components of the proprioceptive, balance, hearing, vestibular, and breathing pathways.[9](https://www.nasonline.org/directory-entry/huda-y-zoghbi-xts8bq/)
**The MECP2 discovery.** Before 1999 it was not clear that Rett syndrome was genetic, and many physicians doubted it was a unique brain disorder.[6](https://www.dicksonprize.pitt.edu/past-recipients/huda-y-zoghbi-md/) After a 16-year search, by late 1998 the only region of the [X chromosome](https://www.edgepedia.org/x-chromosome) left to exclude was Xq28, and painstaking sequencing of candidate genes culminated in a 1999 Nature Genetics report identifying five or more de novo mutations in MECP2 as the cause.[5](https://www.thetransmitter.org/spectrum/the-1999-rett-syndrome-paper/) • [7](https://www.gairdner.org/winner/huda-y-zoghbi) MECP2 proved to be a master regulator controlling thousands of genes, and neurons are sensitive to slightly too much or too little of the protein.[8](https://www.kavliprize.org/prizes/neuroscience/2022) • [1](https://www.bcm.edu/people-search/huda-zoghbi-33774) MECP2 mutations now account for over 95% of typical Rett syndrome cases and approximately 75% of atypical cases.[12](https://pmc.ncbi.nlm.nih.gov/articles/PMC9719276/)
**Translation.** Because duplications spanning MECP2 cause a severe progressive neurological disorder, her lab tested whether lowering MeCP2 helps: antisense oligonucleotide treatment in adult mouse models normalized MECP2 levels and reversed the disorder's features, including late-onset seizures, providing proof-of-concept data for clinical trials.[1](https://www.bcm.edu/people-search/huda-zoghbi-33774) • [13](https://www.texaschildrens.org/duncan-nri/faculty/huda-y-zoghbi-md-director) This therapeutic logic of MECP2 dosage control now underlies company-sponsored gene therapy trials: in May 2025 [Taysha Gene Therapies](https://www.edgepedia.org/taysha-gene-therapies) announced FDA alignment on a pivotal trial of TSHA-102, an intrathecal AAV9 therapy carrying MECP2 with miRARE dosage regulation, after Phase 1/2 data in which all patients gained at least one developmental milestone; in October 2025 Neurogene announced FDA alignment on its registrational protocol for NGN-401, an AAV9 therapy delivering full-length human MECP2 under EXACT transgene regulation, with dosing planned across 13 sites.[14](https://ir.tayshagtx.com/news-releases/news-release-details/taysha-gene-therapies-announces-pivotal-part-b-trial-design) • [15](https://ir.neurogene.com/news-releases/news-release-details/neurogene-announces-positive-regulatory-update-ngn-401-gene)
## Honors and recognition
The Norwegian Academy of Science and Letters awarded Zoghbi the 2022 [Kavli Prize in Neuroscience](https://www.edgepedia.org/kavli-prize-in-neuroscience) jointly with three other scientists for pioneering the discovery of genes underlying a range of serious brain disorders, and in 2022 she also received the Elaine Redding Brinster Prize in Science or Medicine from the Penn Institute for Regenerative Medicine.[8](https://www.kavliprize.org/prizes/neuroscience/2022) • [1](https://www.bcm.edu/people-search/huda-zoghbi-33774) Her other honors include the Vilcek Prize (2009), Gruber Prize in [Neuroscience](https://www.edgepedia.org/neuroscience) (2011), Shaw Prize in life sciences (2016), Breakthrough Prize in Life Sciences (2017), Canada Gairdner International Prize, Brain Prize (2020), and the Victor A. McKusick Leadership Award.[3](https://www.kavliprize.org/bio/huda-y-zoghbi) • [9](https://www.nasonline.org/directory-entry/huda-y-zoghbi-xts8bq/) • [16](https://pmc.ncbi.nlm.nih.gov/articles/PMC5024578/) She is an elected member of the National Academy of Sciences, the [National Academy of Medicine](https://www.edgepedia.org/national-academy-of-medicine), the American Academy of Arts and Sciences, and the National Academy of Inventors, and holds Lebanon's National Order of the Cedar.[9](https://www.nasonline.org/directory-entry/huda-y-zoghbi-xts8bq/) • [3](https://www.kavliprize.org/bio/huda-y-zoghbi)
## Recent developments
According to a 2024 paper in *Neuron* from her lab, acute MeCP2 loss in adult mice produces transcriptional and chromatin changes, with hundreds of genes dysregulated in both directions, that precede neurological dysfunction.[11](https://www.cell.com/neuron/fulltext/S0896-6273(24)00806-7) In 2026 she was named a recipient of the Louisa Gross Horwitz Prize for work on epigenetics in neurological diseases.[17](https://www.bcm.edu/news/2026-horwitz-prize-awarded-for-work-on-epigenetics-in-neurological-diseases) On the therapeutic side, the MECP2 gene-therapy trials described above advanced through FDA alignment in 2025.[14](https://ir.tayshagtx.com/news-releases/news-release-details/taysha-gene-therapies-announces-pivotal-part-b-trial-design) • [15](https://ir.neurogene.com/news-releases/news-release-details/neurogene-announces-positive-regulatory-update-ngn-401-gene)
## References
1. [Huda Yahya Zoghbi | Baylor College of Medicine](https://www.bcm.edu/people-search/huda-zoghbi-33774)
2. [Huda Y. Zoghbi, MD | Texas Children's Hospital](https://www.texaschildrens.org/about-us/our-leadership/huda-y-zoghbi-md)
3. [Kavli Prize Laureate Huda Y. Zoghbi](https://www.kavliprize.org/bio/huda-y-zoghbi)
4. [Huda Y. Zoghbi, MD | HHMI Investigator Profile, 1996–Present](https://www.hhmi.org/scientists/huda-y-zoghbi)
5. [The 1999 Rett syndrome paper | The Transmitter](https://www.thetransmitter.org/spectrum/the-1999-rett-syndrome-paper/)
6. [Huda Y. Zoghbi, MD | Dickson Prize in Medicine](https://www.dicksonprize.pitt.edu/past-recipients/huda-y-zoghbi-md/)
7. [Huda Y. Zoghbi | Gairdner Foundation](https://www.gairdner.org/winner/huda-y-zoghbi)
8. [The 2022 Kavli Prize in Neuroscience](https://www.kavliprize.org/prizes/neuroscience/2022)
9. [Huda Y. Zoghbi | National Academy of Sciences](https://www.nasonline.org/directory-entry/huda-y-zoghbi-xts8bq/)
10. [For Huda Zoghbi, collaboration is the key | Journal of Clinical Investigation](https://www.jci.org/articles/view/60154)
11. https://www.cell.com/neuron/fulltext/S0896-6273(24)00806-7
12. [Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage | PMC](https://pmc.ncbi.nlm.nih.gov/articles/PMC9719276/)
13. [Huda Y. Zoghbi, M.D., Director | Duncan NRI](https://www.texaschildrens.org/duncan-nri/faculty/huda-y-zoghbi-md-director)
14. [Taysha Gene Therapies Announces Pivotal Part B Trial Design for TSHA-102](https://ir.tayshagtx.com/news-releases/news-release-details/taysha-gene-therapies-announces-pivotal-part-b-trial-design)
15. [Neurogene Announces Positive Regulatory Update for NGN-401 Gene Therapy](https://ir.neurogene.com/news-releases/news-release-details/neurogene-announces-positive-regulatory-update-ngn-401-gene)
16. [QnAs with Huda Y. Zoghbi | PNAS](https://pmc.ncbi.nlm.nih.gov/articles/PMC5024578/)
17. [2026 Horwitz Prize Awarded for Work on Epigenetics in Neurological Diseases | BCM](https://www.bcm.edu/news/2026-horwitz-prize-awarded-for-work-on-epigenetics-in-neurological-diseases)
---
*Topic: Encyclopedia › Life and health › Life and health scientists › Life scientists › Researchers in neuroscience › Neurogenetics and Neurogenomics*
*Initially written Sep 20, 2026 · Reviewed: Sep 25, 2026 · Edited: Sep 25, 2026; Oct 11, 2026; Oct 15, 2026 · Last review: Sep 25, 2026*
*Copyright 2026 EdgeChat AI, a subsidiary of Biostate AI.*
License: Edgepedia Community License 1.0, https://www.edgepedia.org/edgepedia/license