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Huda Yahya Zoghbi (
Arabic Arabic (, ' ; , ' or ) is a Semitic languages, Semitic language spoken primarily across the Arab world.Semitic languages: an international handbook / edited by Stefan Weninger; in collaboration with Geoffrey Khan, Michael P. Streck, Janet C ...
: هدى الهبري الزغبي ''Hudā al-Hibrī az-Zughbī''; born 1954), born Huda El-Hibri, is a Lebanese-born American
geneticist A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processe ...
, and a professor at the Departments of
Molecular A molecule is a group of two or more atoms held together by attractive forces known as chemical bonds; depending on context, the term may or may not include ions which satisfy this criterion. In quantum physics, organic chemistry, and bioche ...
and
Human Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...
Genetics,
Neuroscience Neuroscience is the scientific study of the nervous system (the brain, spinal cord, and peripheral nervous system), its functions and disorders. It is a multidisciplinary science that combines physiology, anatomy, molecular biology, development ...
and
Neurology Neurology (from el, wikt:νεῦρον, νεῦρον (neûron), "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine), medicine dealing with the diagnosis and treatment of all categories of co ...
at the
Baylor College of Medicine Baylor College of Medicine (BCM) is a medical school and research center in Houston, Texas, within the Texas Medical Center, the world's largest medical center. BCM is composed of four academic components: the School of Medicine, the Graduate Sc ...
. She is the director of the Jan and Dan Duncan Neurological Research Institute. She became the
editor Editing is the process of selecting and preparing written, photographic, visual, audible, or cinematic material used by a person or an entity to convey a message or information. The editing process can involve correction, condensation, orga ...
of the ''
Annual Review of Neuroscience Annual may refer to: * Annual publication, periodical publications appearing regularly once per year **Yearbook ** Literary annual *Annual plant * Annual report * Annual giving * Annual, Morocco, a settlement in northeastern Morocco * Annuals (ba ...
'' as of 2018. Her work helped elucidate the genes and genetic mechanisms responsible for a number of devastating neurological disorders, such as
Rett syndrome Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often h ...
and
Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance. This cere ...
. Zoghbi's discoveries have provided new ways of thinking about other neurological disorders such as
Parkinson's disease Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly, and as the disease worsens, non-motor symptoms becom ...
,
Alzheimer's Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As t ...
,
autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
and
intellectual disability Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signifi ...
, which could lead to new therapeutics and better, more efficient treatments. In 2017, she was awarded the
Canada Gairdner International Award The Canada Gairdner International Award is given annually by the Gairdner Foundation at a special dinner to five individuals for outstanding discoveries or contributions to medical science. Receipt of the Gairdner is traditionally considered a p ...
and the
Breakthrough Prize in Life Sciences The Breakthrough Prize in Life Sciences is a scientific award, funded by internet entrepreneurs Mark Zuckerberg and Priscilla Chan of Facebook; Sergey Brin of Google; entrepreneur and venture capitalist Yuri Milner; and Anne Wojcicki, one of the ...
.


Early life and education

Huda Zoghbi was born in
Beirut Beirut, french: Beyrouth is the capital and largest city of Lebanon. , Greater Beirut has a population of 2.5 million, which makes it the third-largest city in the Levant region. The city is situated on a peninsula at the midpoint o ...
,
Lebanon Lebanon ( , ar, لُبْنَان, translit=lubnān, ), officially the Republic of Lebanon () or the Lebanese Republic, is a country in Western Asia. It is located between Syria to the north and east and Israel to the south, while Cyprus li ...
in 1954, and raised in Beirut. She loved reading works by
William Shakespeare William Shakespeare ( 26 April 1564 – 23 April 1616) was an English playwright, poet and actor. He is widely regarded as the greatest writer in the English language and the world's pre-eminent dramatist. He is often called England's nation ...
,
Jane Austen Jane Austen (; 16 December 1775 – 18 July 1817) was an English novelist known primarily for her six major novels, which interpret, critique, and comment upon the British landed gentry at the end of the 18th century. Austen's plots of ...
and
William Wordsworth William Wordsworth (7 April 177023 April 1850) was an English Romantic poet who, with Samuel Taylor Coleridge, helped to launch the Romantic Age in English literature with their joint publication ''Lyrical Ballads'' (1798). Wordsworth's ' ...
in high school and intended to pursue
literature Literature is any collection of written work, but it is also used more narrowly for writings specifically considered to be an art form, especially prose fiction, drama, and poetry. In recent centuries, the definition has expanded to include ...
at university. Her mother convinced her to study
biology Biology is the scientific study of life. It is a natural science with a broad scope but has several unifying themes that tie it together as a single, coherent field. For instance, all organisms are made up of cells that process hereditary i ...
instead, on the grounds that 'a woman growing up in the Middle East should pick a career ensuring independence and security, while she can always write on the side'. Zoghbi was admitted as a
biological sciences Biology is the scientific study of life. It is a natural science with a broad scope but has several unifying themes that tie it together as a single, coherent field. For instance, all organisms are made up of cells that process hereditary ...
major at the
American University of Beirut The American University of Beirut (AUB) ( ar, الجامعة الأميركية في بيروت) is a private, non-sectarian, and independent university chartered in New York with its campus in Beirut, Lebanon. AUB is governed by a private, aut ...
(AUB) in 1973 and entered the university's
medical school A medical school is a tertiary educational institution, or part of such an institution, that teaches medicine, and awards a professional degree for physicians. Such medical degrees include the Bachelor of Medicine, Bachelor of Surgery (MBBS, M ...
2 years later. The
Lebanese Civil War The Lebanese Civil War ( ar, الحرب الأهلية اللبنانية, translit=Al-Ḥarb al-Ahliyyah al-Libnāniyyah) was a multifaceted armed conflict that took place from 1975 to 1990. It resulted in an estimated 120,000 fatalities a ...
began in 1976 during her first year of medical school. Although she and her classmates decided to stay at the university, after her brother was injured by shrapnel, their parents sent them to live with their sister in
Austin Austin is the capital city of the U.S. state of Texas, as well as the seat and largest city of Travis County, with portions extending into Hays and Williamson counties. Incorporated on December 27, 1839, it is the 11th-most-populous city ...
,
Texas Texas (, ; Spanish language, Spanish: ''Texas'', ''Tejas'') is a state in the South Central United States, South Central region of the United States. At 268,596 square miles (695,662 km2), and with more than 29.1 million residents in 2 ...
, with plans to return the following summer. The war, however, raged on, and Zoghbi was under the impression that school terms at American medical schools began in October, as was the case with Lebanese schools. However, in October, it was confirmed that she was still unable to return to Lebanon due to the war, and US medical schools had begun their fall term 2 months earlier. Her family friends in America suggested she apply to
Vanderbilt University Vanderbilt University (informally Vandy or VU) is a private research university in Nashville, Tennessee. Founded in 1873, it was named in honor of shipping and rail magnate Cornelius Vanderbilt, who provided the school its initial $1-million ...
. Vanderbilt did not accept transfer students, but recommended
Meharry Medical College Meharry Medical College is a private historically black medical school affiliated with the United Methodist Church and located in Nashville, Tennessee. Founded in 1876 as the Medical Department of Central Tennessee College, it was the first me ...
instead; Meharry accepted her on the spot. Despite her continued desire to return to Lebanon the next summer, on the advice of professors at AUB, she stayed at Meharry and earned an MD degree in 1979, after which she joined the
Texas Children's Hospital Texas Children's Hospital is a nationally ranked, freestanding 973-bed, acute care women's and children's hospital located in Houston, Texas. It is the primary pediatric teaching hospital affiliated with Baylor College of Medicine and is located wit ...
at the
Baylor College of Medicine Baylor College of Medicine (BCM) is a medical school and research center in Houston, Texas, within the Texas Medical Center, the world's largest medical center. BCM is composed of four academic components: the School of Medicine, the Graduate Sc ...
as a
pediatric Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the ...
resident. Zoghbi initially intended to specialise in pediatric
cardiology Cardiology () is a branch of medicine that deals with disorders of the heart and the cardiovascular system. The field includes medical diagnosis and treatment of congenital heart defects, coronary artery disease, heart failure, valvular heart d ...
, out of an interest in the heart. During her rotation at pediatric
neurology Neurology (from el, wikt:νεῦρον, νεῦρον (neûron), "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine), medicine dealing with the diagnosis and treatment of all categories of co ...
, Marvin Fishman, the head of the division, convinced her that the
brain A brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It is located in the head, usually close to the sensory organs for senses such as vision. It is the most complex organ in a v ...
was more interesting than the heart. She thus started a 3-year term as a
postdoctoral researcher A postdoctoral fellow, postdoctoral researcher, or simply postdoc, is a person professionally conducting research after the completion of their doctoral studies (typically a PhD). The ultimate goal of a postdoctoral research position is to p ...
in pediatric neurology after she finished her residency in 1982.


Career

From 1982 to 1985, Zoghbi was a
postdoctoral researcher A postdoctoral fellow, postdoctoral researcher, or simply postdoc, is a person professionally conducting research after the completion of their doctoral studies (typically a PhD). The ultimate goal of a postdoctoral research position is to p ...
in pediatric neurology at the
Baylor College of Medicine Baylor College of Medicine (BCM) is a medical school and research center in Houston, Texas, within the Texas Medical Center, the world's largest medical center. BCM is composed of four academic components: the School of Medicine, the Graduate Sc ...
. She became an assistant professor at the Department of Pediatrics at Baylor in 1988, and was successively promoted to associate professor in 1991 and professor in 1994. At present, Zoghbi is a professor at the Department of
Molecular A molecule is a group of two or more atoms held together by attractive forces known as chemical bonds; depending on context, the term may or may not include ions which satisfy this criterion. In quantum physics, organic chemistry, and bioche ...
and
Human Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...
Genetics at Baylor, with appointments as a professor at the Department of
Neuroscience Neuroscience is the scientific study of the nervous system (the brain, spinal cord, and peripheral nervous system), its functions and disorders. It is a multidisciplinary science that combines physiology, anatomy, molecular biology, development ...
and the Department of
Pediatrics Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until th ...
Section of Neurology and Developmental Neuroscience, the Ralph Feigin, M.D. Endowed Chair, the director of the
Texas Children's Hospital Texas Children's Hospital is a nationally ranked, freestanding 973-bed, acute care women's and children's hospital located in Houston, Texas. It is the primary pediatric teaching hospital affiliated with Baylor College of Medicine and is located wit ...
Jan and Dan Duncan Neurological Research Institute, a member of the Dan L. Duncan Comprehensive Cancer Center at Baylor, and an investigator at the
Howard Hughes Medical Institute The Howard Hughes Medical Institute (HHMI) is an American non-profit medical research organization based in Chevy Chase, Maryland. It was founded in 1953 by Howard Hughes, an American business magnate, investor, record-setting pilot, engineer, fil ...
. She is also a member of the board of directors of
Regeneron Pharmaceuticals Regeneron Pharmaceuticals, Inc. is an American biotechnology company headquartered in Westchester County, New York. The company was founded in 1988. Originally focused on neurotrophic factors and their regenerative capabilities, giving rise to i ...
. She also served on the Life Sciences jury for the
Infosys Prize The Infosys Prize is an annual award given to scientists, researchers, engineers and social scientists of Indian origin (not necessarily born in India) by the Infosys Science Foundation and ranks among the highest monetary awards in India to re ...
in 2014.


Research

In 1983, Zoghbi learnt of
Rett syndrome Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often h ...
from Bengt Hagberg's account in ''
Annals of Neurology ''Annals of Neurology'' is a peer-reviewed medical journal publishing articles of "broad interest in neurology, particularly those with high impact in understanding the mechanisms and treatment of diseases of the human nervous system." The journal ...
''. The paper allowed Zoghbi to diagnose a five-year-old she treated at
Texas Children's Hospital Texas Children's Hospital is a nationally ranked, freestanding 973-bed, acute care women's and children's hospital located in Houston, Texas. It is the primary pediatric teaching hospital affiliated with Baylor College of Medicine and is located wit ...
, and a week later she saw another patient with the same set of symptoms. When she investigated medical records, she found more cases of Rett syndrome that had been misdiagnosed. This sparked her interest in Rett syndrome, at a time when there was no report of the disease in the US. An article she published in 1985 attracted many Rett syndrome patients to Texas Children's Hospital, giving her access to a large number of cases. Since most patients of Rett syndrome were girls, and symptoms were very consistent across patients, Zoghbi believed
genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...
were involved in the disease process. This led her to join Arthur Beaudet's group in 1985, after finishing her term as a
postdoctoral researcher A postdoctoral fellow, postdoctoral researcher, or simply postdoc, is a person professionally conducting research after the completion of their doctoral studies (typically a PhD). The ultimate goal of a postdoctoral research position is to p ...
, for training in genetics and
molecular biology Molecular biology is the branch of biology that seeks to understand the molecular basis of biological activity in and between cells, including biomolecular synthesis, modification, mechanisms, and interactions. The study of chemical and physi ...
. Beaudet advised against Rett syndrome as her research project since its mode of inheritance was still not obvious, and recommended a more approachable problem –
spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance. This cere ...
, a dominantly inherited neurological disorder. In 1988, Zoghbi left Beaudet's group and founded her own lab at Baylor. In addition to her research on spinocerebellar ataxia type 1 and Rett syndrome, Zoghbi is participating in a joint research collaboration into
CDKL5 CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in t ...
Deficiency Disorder, funded by the Loulou Foundation, Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital


Spinocerebellar ataxia type 1

Following the establishment of her own lab, Zoghbi continued studying
spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance. This cere ...
(SCA1), in collaboration with Harry Orr from the
University of Minnesota The University of Minnesota, formally the University of Minnesota, Twin Cities, (UMN Twin Cities, the U of M, or Minnesota) is a public university, public Land-grant university, land-grant research university in the Minneapolis–Saint Paul, Tw ...
. On the same day, 8 April 1993, both Zoghbi and Orr identified ATXN1 as the gene responsible for SCA1. They determined that the disease was caused by an
expansion Expansion may refer to: Arts, entertainment and media * ''L'Expansion'', a French monthly business magazine * ''Expansion'' (album), by American jazz pianist Dave Burrell, released in 2004 * ''Expansions'' (McCoy Tyner album), 1970 * ''Expansio ...
of the
glutamine Glutamine (symbol Gln or Q) is an α-amino acid that is used in the biosynthesis of proteins. Its side chain is similar to that of glutamic acid, except the carboxylic acid group is replaced by an amide. It is classified as a charge-neutral, ...
-encoding CAG trinucleotide repeat in this gene, and that the younger the age of onset, the longer the CAG repeat. Further work by Zoghbi, Orr and their teams demonstrated that the
misfolding Protein folding is the physical process by which a protein chain is Translation (biology), translated to its native protein tertiary structure, three-dimensional structure, typically a "folded" Protein structure, conformation by which the prote ...
, aggregation, and proteasomal
degradation Degradation may refer to: Science * Degradation (geology), lowering of a fluvial surface by erosion * Degradation (telecommunications), of an electronic signal * Biodegradation of organic substances by living organisms * Environmental degradatio ...
of the
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
product of this gene,
Ataxin 1 Ataxin-1 is a DNA-binding protein which in humans is encoded by the ''ATXN1'' gene. Mutations in ataxin-1 cause spinocerebellar ataxia type 1, an inherited Neurodegeneration, neurodegenerative disease characterized by a progressive loss of cerebe ...
, played a role in the disorder.


Math1

After solving the
etiology Etiology (pronounced ; alternatively: aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek (''aitiología'') "giving a reason for" (, ''aitía'', "cause"); and ('' -logía''). More completely, e ...
of
spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance. This cere ...
, Zoghbi began studying animal genes related to
balance Balance or balancing may refer to: Common meanings * Balance (ability) in biomechanics * Balance (accounting) * Balance or weighing scale * Balance as in equality or equilibrium Arts and entertainment Film * ''Balance'' (1983 film), a Bulgaria ...
. As Baylor's Hugo J. Bellen described the role of the ''atonal'' gene in balance in
fruit flies Fruit fly may refer to: Organisms * Drosophilidae, a family of small flies, including: ** ''Drosophila'', the genus of small fruit flies and vinegar flies ** ''Drosophila melanogaster'' or common fruit fly ** ''Drosophila suzukii'' or Asian fruit ...
, Zoghbi chose to study its
mammal Mammals () are a group of vertebrate animals constituting the class Mammalia (), characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or ...
ian
homolog In biology, homology is similarity due to shared ancestry between a pair of structures or genes in different taxa. A common example of homologous structures is the forelimbs of vertebrates, where the wings of bats and birds, the arms of prima ...
. A member of her lab successfully cloned the mouse homolog, '' Math1'', in 1996. Her team went on to find that, in addition to its involvement in balance and coordination, ''Math1'' is also crucial to hearing, the formation of secretory cells in the gut., and neonatal respiratory rhythm and chemosensitivity in the adult brain by regulating the development of a group of hindbrain neurons. Her lab has also shown that aberrant activation of ''Math1'' could lead to
medulloblastoma Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the brain that is towards the back and the bottom, on the floor of the skull, in the cerebellum, or posterior fossa. The brain is divided into two ...
, a common childhood brain tumor, and that mice which did not express ''Math1,'' did not develop the tumor.


Rett syndrome

Ever since Zoghbi was introduced to
Rett syndrome Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often h ...
early in her career, she has been working on the disorder alongside other research, despite the lack of enthusiasm from her colleagues, fellow researchers and funding agencies. The main reason is that very few individuals and even fewer families are available for investigation. In the 1990s, she collaborated with Uta Francke from
Stanford University Stanford University, officially Leland Stanford Junior University, is a private research university in Stanford, California. The campus occupies , among the largest in the United States, and enrolls over 17,000 students. Stanford is consider ...
to identify the gene responsible for Rett syndrome. In 1992, she narrowed down the target to a section of the
X chromosome The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-d ...
. In 1999, a
postdoctoral researcher A postdoctoral fellow, postdoctoral researcher, or simply postdoc, is a person professionally conducting research after the completion of their doctoral studies (typically a PhD). The ultimate goal of a postdoctoral research position is to p ...
in Zoghbi's lab identified
MECP2 ''MECP2'' (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in ...
as the causative gene. The MECP2
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
binds
methylated In the chemical sciences, methylation denotes the addition of a methyl group on a substrate, or the substitution of an atom (or group) by a methyl group. Methylation is a form of alkylation, with a methyl group replacing a hydrogen atom. These ...
cytosine Cytosine () ( symbol C or Cyt) is one of the four nucleobases found in DNA and RNA, along with adenine, guanine, and thymine (uracil in RNA). It is a pyrimidine derivative, with a heterocyclic aromatic ring and two substituents attached (an am ...
( 5-methylcytosine) in
CpG sites The CpG sites or CG sites are regions of DNA where a cytosine nucleotide is followed by a guanine nucleotide in the linear sequence of bases along its 5' → 3' direction. CpG sites occur with high frequency in genomic regions called CpG isl ...
, and is indispensable for almost all
brain cells Brain cells make up the functional tissue of the brain. The rest of the brain tissue is structural or connective called the stroma which includes blood vessels. The two main types of cells in the brain are neurons, also known as nerve cells, an ...
. In the paper, she and her team demonstrated that Rett syndrome was an
X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. ...
disorder, meaning that when 1 of the 2 copies of the MECP2 gene is abnormal, Rett syndrome will result. Zoghbi's team keeps studying MECP2, and discovered in 2004 that overexpressing the protein in mouse led to an
autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
-like neurological disorder. In 2009, she found mice deficient of the Mecp2 gene (the mouse homolog of human MECP2) had lower levels of
norepinephrine Norepinephrine (NE), also called noradrenaline (NA) or noradrenalin, is an organic chemical in the catecholamine family that functions in the brain and body as both a hormone and neurotransmitter. The name "noradrenaline" (from Latin '' ad'', ...
,
dopamine Dopamine (DA, a contraction of 3,4-dihydroxyphenethylamine) is a neuromodulatory molecule that plays several important roles in cells. It is an organic compound, organic chemical of the catecholamine and phenethylamine families. Dopamine const ...
and
serotonin Serotonin () or 5-hydroxytryptamine (5-HT) is a monoamine neurotransmitter. Its biological function is complex and multifaceted, modulating mood, cognition, reward, learning, memory, and numerous physiological processes such as vomiting and vas ...
, consistent with her clinical observations of patients of Rett syndrome in 1985. Recently, Zoghbi confirmed that the MECP2 protein also bound 5-methylcytosine not in CpG sites, and that restoring the level of MECP2 protein in a subset of
neurons A neuron, neurone, or nerve cell is an electrically excitable cell that communicates with other cells via specialized connections called synapses. The neuron is the main component of nervous tissue in all animals except sponges and placozoa. N ...
was sufficient to rescue some symptoms of Rett syndrome.


Ataxin-1 link to Alzheimer's

After linking the gene Ataxin-1 to SCA1, Zoghbi's lab was approached by Dr. Jaehong Suh of the
Massachusetts General Hospital Massachusetts General Hospital (Mass General or MGH) is the original and largest teaching hospital of Harvard Medical School located in the West End neighborhood of Boston, Massachusetts. It is the third oldest general hospital in the United Stat ...
's MassGeneral Institute for Neurodegenerative Disease to investigate the connection between ataxin-1 gene and
Alzheimer’s disease Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As t ...
. The subsequent study found that loss of ataxin-1 elevates BACE1 expression and Aβ pathology in mouse models, rendering it a potential contributor to risk and pathogenesis of Alzheimer's disease.


Awards and honors

* 2022 –
Kavli Prize The Kavli Prize was established in 2005 as a joint venture of the Norwegian Academy of Science and Letters, the Norwegian Ministry of Education and Research, and the Kavli Foundation. It honors, supports, and recognizes scientists for outstan ...
in Neuroscience. * 2020 – Brain Prize * 2019 – Victor A. McKusick Leadership Award,
American Society of Human Genetics The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The Society's members include researchers, a ...
* 2018 – Member of the
American Academy of Arts and Sciences The American Academy of Arts and Sciences (abbreviation: AAA&S) is one of the oldest learned societies in the United States. It was founded in 1780 during the American Revolution by John Adams, John Hancock, James Bowdoin, Andrew Oliver, and ...
* 2018 – Ross Prize in Molecular Medicine,
Molecular Medicine Molecular medicine is a broad field, where physical, chemical, biological, bioinformatics and medical techniques are used to describe molecular structures and mechanisms, identify fundamental molecular and genetic errors of disease, and to develop ...
* 2018 –
National Order of the Cedar National may refer to: Common uses * Nation or country ** Nationality – a ''national'' is a person who is subject to a nation, regardless of whether the person has full rights as a citizen Places in the United States * National, Maryland, ce ...
,
Lebanon Lebanon ( , ar, لُبْنَان, translit=lubnān, ), officially the Republic of Lebanon () or the Lebanese Republic, is a country in Western Asia. It is located between Syria to the north and east and Israel to the south, while Cyprus li ...
* 2017 –
Breakthrough Prize in Life Sciences The Breakthrough Prize in Life Sciences is a scientific award, funded by internet entrepreneurs Mark Zuckerberg and Priscilla Chan of Facebook; Sergey Brin of Google; entrepreneur and venture capitalist Yuri Milner; and Anne Wojcicki, one of the ...
* 2017 –
Canada Gairdner International Award The Canada Gairdner International Award is given annually by the Gairdner Foundation at a special dinner to five individuals for outstanding discoveries or contributions to medical science. Receipt of the Gairdner is traditionally considered a p ...
* 2016 –
Jessie Stevenson Kovalenko Medal The Jessie Stevenson Kovalenko Medal is awarded every two years by the US National Academy of Sciences "for important contributions to the medical sciences." It was first awarded in 1952 and involves a prize of $25,000 plus $50,000 for research. ...
* 2016 – Shaw Prize in Life Science and Medicine * 2015 – Mechthild Esser Nemmers Prize in
Medical Science Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care practice ...
,
Northwestern University Northwestern University is a private research university in Evanston, Illinois. Founded in 1851, Northwestern is the oldest chartered university in Illinois and is ranked among the most prestigious academic institutions in the world. Charte ...
* 2015 – Vanderbilt Prize in Biomedical Science,
Vanderbilt University School of Medicine Vanderbilt University School of Medicine is a graduate medical school of Vanderbilt University located in Nashville, Tennessee. Located in the Vanderbilt University Medical Center on the southeastern side of the Vanderbilt University campus, the ...
* 2015 – Javits
Neuroscience Neuroscience is the scientific study of the nervous system (the brain, spinal cord, and peripheral nervous system), its functions and disorders. It is a multidisciplinary science that combines physiology, anatomy, molecular biology, development ...
Investigator Award,
National Institute of Neurological Disorders and Stroke The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH). It conducts and funds research on brain and nervous system disorders and has a budget of just over US$2.03 billion. The ...
(NINDS),
National Institutes of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...
* 2015 – American Task Force for Lebanon Award * 2015 – Mortimer D. Sackler, M.D. Prize for Distinguished Achievement in
Developmental Psychobiology Developmental psychobiology is an interdisciplinary field, encompassing developmental psychology, biological psychology, neuroscience and many other areas of biology. The field covers all phases of ontogeny, with particular emphasis on prenatal, p ...
,
Weill Cornell Medicine The Joan & Sanford I. Weill Medical College of Cornell University is Cornell University's biomedical research unit and medical school located in Upper East Side, Manhattan, New York City, New York. Weill Cornell Medicine is affiliated with NewY ...
and
Columbia University College of Physicians and Surgeons Columbia University Vagelos College of Physicians and Surgeons (VP&S) is the graduate medical school of Columbia University, located at the Columbia University Irving Medical Center in the Washington Heights neighborhood of Manhattan. Founded i ...
* 2014 – Honorary Doctor of Medical Sciences,
Yale University Yale University is a private research university in New Haven, Connecticut. Established in 1701 as the Collegiate School, it is the third-oldest institution of higher education in the United States and among the most prestigious in the wo ...
* 2014 –
March of Dimes March of Dimes is a United States nonprofit organization that works to improve the health of mothers and babies. The organization was founded by President Franklin D. Roosevelt in 1938, as the National Foundation for Infantile Paralysis, to comba ...
Prize in
Developmental Biology Developmental biology is the study of the process by which animals and plants grow and develop. Developmental biology also encompasses the biology of Regeneration (biology), regeneration, asexual reproduction, metamorphosis, and the growth and di ...
* 2014 – Edward M. Scolnick Prize in Neuroscience,
McGovern Institute for Brain Research The McGovern Institute for Brain Research is a research institute within MIT. Its mission is to understand how the brain works and to discover new ways to prevent or treat brain disorders. The institute was founded in 2000 by Patrick McGover ...
,
Massachusetts Institute of Technology The Massachusetts Institute of Technology (MIT) is a private land-grant research university in Cambridge, Massachusetts. Established in 1861, MIT has played a key role in the development of modern technology and science, and is one of the ...
* 2013 – Dickson Prize in Medicine,
University of Pittsburgh The University of Pittsburgh (Pitt) is a public state-related research university in Pittsburgh, Pennsylvania. The university is composed of 17 undergraduate and graduate schools and colleges at its urban Pittsburgh campus, home to the universit ...
* 2013 –
Pearl Meister Greengard Prize The Pearl Meister Greengard Prize is an award for women scientists in biology given annually by the Rockefeller University. The Prize was founded by Nobel laureate Paul Greengard and his wife Ursula von Rydingsvard in honor of Greengard's moth ...
,
Rockefeller University The Rockefeller University is a private biomedical research and graduate-only university in New York City, New York. It focuses primarily on the biological and medical sciences and provides doctoral and postdoctoral education. It is classif ...
* 2011 –
Gruber Prize in Neuroscience The Gruber Prize in Neuroscience, established in 2004, is one of three international awards worth US$500,000 made by the Gruber Foundation, a non-profit organization based in Yale University in New Haven, Connecticut. The Gruber Prize in Neurosc ...
* 2011 – Vita and Lee Lyman Dewey Tuttle Brookwood Legacy Award for Excellence and Partnership in Medicine, Brookwood Community * 2009 – International
Rett Syndrome Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often h ...
Foundation's Circle of Angels Research Award * 2009 – Vilcek Prize for Biomedical Research,
Vilcek Foundation The Vilcek Foundation raises awareness of immigrant contributions to the United States, and fosters appreciation of the arts and sciences. The foundation's flagship programs include the Vilcek Foundation Prizes, which recognize and support immigra ...
* 2009 – Marion Spencer Fay Award,
Drexel University College of Medicine Drexel University College of Medicine is the medical school of Drexel University, a private research university in Philadelphia, Pennsylvania. The medical school represents the consolidation of two medical schools: the first U.S. medical school f ...
* 2009 – Cathedra Laboris,
University of Monterrey The University of Monterrey ( es, Universidad de Monterrey, acronym "UDEM") is a private Catholic-inspired secondary and higher education institution in the municipality of San Pedro Garza García, belonging to the Metropolitan Area of Monterre ...
* 2008 – Honorary Doctor of Science,
Meharry Medical College Meharry Medical College is a private historically black medical school affiliated with the United Methodist Church and located in Nashville, Tennessee. Founded in 1876 as the Medical Department of Central Tennessee College, it was the first me ...
* 2008 –
Texas Women's Hall of Fame The Texas Women's Hall of Fame was established in 1984 by the Governor's Commission on Women. The honorees are selected biennially from submissions from the public. The honorees must be either native Texans, or a resident of Texas at the time of th ...
* 2007 – Perl-UNC Neuroscience Prize * 2007 – Massachusetts Institute of Technology Arab Students' Organization
Science Science is a systematic endeavor that builds and organizes knowledge in the form of testable explanations and predictions about the universe. Science may be as old as the human species, and some of the earliest archeological evidence for ...
and
Technology Technology is the application of knowledge to reach practical goals in a specifiable and reproducible way. The word ''technology'' may also mean the product of such an endeavor. The use of technology is widely prevalent in medicine, science, ...
Lifetime Achievement Award * 2007 – Honorary Doctor of Science,
Middlebury College Middlebury College is a private liberal arts college in Middlebury, Vermont. Founded in 1800 by Congregationalists, Middlebury was the first operating college or university in Vermont. The college currently enrolls 2,858 undergraduates from all ...
* 2007 – Robert J. and Claire Pasarow Foundation Award in Neuropsychiatry Research * 2004 – Member of the
National Academy of Sciences The National Academy of Sciences (NAS) is a United States nonprofit, non-governmental organization. NAS is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Engineering (NAE) and the Nati ...
* 2004 – Neuronal Plasticity Prize, Ipsen Foundation * 2004 – Marta Philipson Award in Pediatrics, Philipson Foundation for Research * 2002 – Fellow of the
American Association for the Advancement of Science The American Association for the Advancement of Science (AAAS) is an American international non-profit organization with the stated goals of promoting cooperation among scientists, defending scientific freedom, encouraging scientific respons ...
* 2002 – Raymond D. Adams Lectureship,
American Neurological Association The American Neurological Association (ANA) is a professional society of academic neurologists and neuroscientists devoted to advancing the goals of academic neurology; to training and educating neurologists and other physicians in the neurologic ...
* 2001 –
Bernard Sachs Bernard Sachs (January 2, 1858 – February 8, 1944) was an American neurologist. Early life and education After graduating with a B.A. from Harvard in 1878, Sachs travelled to Europe and studied under some of the more prominent physicians o ...
Award, Society for Pediatric Research * 2000 – Member of the
National Academy of Medicine The National Academy of Medicine (NAM), formerly called the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, En ...
(formerly the Institute of Medicine) * 1998 – Sidney Carter Award,
American Academy of Neurology The American Academy of Neurology (AAN) is a professional society representing over 38,000 neurologists and neuroscientists. As a medical specialty society it was established in 1948 by A.B. Baker of the University of Minnesota to advance the ar ...
* 1998 – Soriano Lectureship,
American Neurological Association The American Neurological Association (ANA) is a professional society of academic neurologists and neuroscientists devoted to advancing the goals of academic neurology; to training and educating neurologists and other physicians in the neurologic ...
* 1998 – Javits Award,
NINDS The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH). It conducts and funds research on brain and nervous system disorders and has a budget of just over US$2.03 billion. The ...
, National Institutes of Health * 1996 – E. Mead Johnson Award, Society of Pediatric Research * 1995 – Kilby International Award


Personal life

Zoghbi met her husband, William Zoghbi when they were medical students in the
American University of Beirut The American University of Beirut (AUB) ( ar, الجامعة الأميركية في بيروت) is a private, non-sectarian, and independent university chartered in New York with its campus in Beirut, Lebanon. AUB is governed by a private, aut ...
. In 1977, she continued her medical school study in
Meharry Medical College Meharry Medical College is a private historically black medical school affiliated with the United Methodist Church and located in Nashville, Tennessee. Founded in 1876 as the Medical Department of Central Tennessee College, it was the first me ...
, and William transferred to Meharry next year. They both had their residencies in the
Baylor College of Medicine Baylor College of Medicine (BCM) is a medical school and research center in Houston, Texas, within the Texas Medical Center, the world's largest medical center. BCM is composed of four academic components: the School of Medicine, the Graduate Sc ...
after graduation. They married in 1980 and have 2 children. William is the chief of the Department of
Cardiology Cardiology () is a branch of medicine that deals with disorders of the heart and the cardiovascular system. The field includes medical diagnosis and treatment of congenital heart defects, coronary artery disease, heart failure, valvular heart d ...
at
Houston Methodist Hospital Houston Methodist Hospital is the flagship quaternary care hospital of Houston Methodist academic medical center. Located in the Texas Medical Center in Houston, Texas, Houston Methodist Hospital was established in 1919 during the height of the ...
.


References


External links

* * {{DEFAULTSORT:Zoghbi, Huda Living people Members of the United States National Academy of Sciences Howard Hughes Medical Investigators Members of the National Academy of Medicine Baylor College of Medicine faculty 1955 births American neuroscientists Lebanese pediatricians Lebanese neuroscientists Lebanese women neuroscientists Lebanese women scientists Scientists from Beirut American women neuroscientists American women academics Annual Reviews (publisher) editors 21st-century American women