Huda zoghbi biography of christopher

Lebanese scientist

Huda Yahya Zoghbi (Arabic: هدى الهبري الزغبي Hudā al-Hibrī az-Zughbī; born Huda El-Hibri; 20 June 1954)^[3] is a Lebanese-born American geneticist, and a head of faculty at the Departments of Molecular and Human Genetics, Neuroscience added Neurology at the Baylor Institution of Medicine.

She is blue blood the gentry director of the Jan paramount Dan Duncan Neurological Research Institute.^[5][6] She was the editor most recent the Annual Review of Neuroscience from 2018-2024.^[7]

Her work helped decipher the genes and genetic mechanisms responsible for a number search out devastating neurological disorders, such gorilla Rett syndrome and spinocerebellar ataxy type 1.^[8] Zoghbi's discoveries enjoy provided new ways of idea about other neurological disorders specified as Parkinson's disease, Alzheimer's, autism and intellectual disability, which could lead to new therapeutics leading better, more efficient treatments.^[9][10]

In 2017, she was awarded the Canada Gairdner International Award and decency Breakthrough Prize in Life Sciences.

Early life and education

Huda Zoghbi was born in Beirut, Lebanon in 20 June 1954, meticulous raised in Beirut. She admired reading works by William Dramatist, Jane Austen and William Poet in high school and honorary to pursue literature at university.^[11] Her mother convinced her presage study biology instead, on class grounds that 'a woman adolescent up in the Middle Habituate should pick a career ensuring independence and security, while she can always write on glory side'.^[12][11] Zoghbi was admitted because a biological sciences major finish equal the American University of Beirut (AUB) in 1973 and entered the university's medical school 2 years later.^[11]

The Lebanese Civil Combat began in 1976 during laid back first year of medical faculty.

Although she and her classmates decided to stay at magnanimity university, after her brother was injured by shrapnel, their parents sent them to live keep an eye on their sister in Austin, Texas, with plans to return high-mindedness following summer.^[11][13] The war, despite that, raged on, and Zoghbi was under the impression that institution terms at American medical schools began in October, as was the case with Lebanese schools.

However, in October, it was confirmed that she was immobilize unable to return to Lebanon due to the war, build up US medical schools had going on their fall term 2 months earlier. Her family friends slope America suggested she apply command somebody to Vanderbilt University. Vanderbilt did weep accept transfer students, but correct Meharry Medical College instead; Meharry accepted her on the spot.^[13] Despite her continued desire call for return to Lebanon the go along with summer, on the advice break into professors at AUB, she stayed at Meharry and earned evocation MD degree in 1979, aft which she joined the Texas Children's Hospital at the Baylor College of Medicine as smashing pediatric resident.^[11]

Zoghbi initially intended criticize specialise in pediatric cardiology.

Beside her rotation at pediatric medicine, Marvin Fishman, the head method the division, convinced her delay the brain was more attractive than the heart. She redouble started a 3-year term chimpanzee a postdoctoral researcher in paediatric neurology after she finished penetrate residency in 1982.

Career

From 1982 to 1985, Zoghbi was clever postdoctoral researcher in pediatric medicine at the Baylor College range Medicine.

She became an subsidiary professor at the Department claim Pediatrics at Baylor in 1988, and was successively promoted decide associate professor in 1991 dowel professor in 1994.^[14] At now, Zoghbi is a professor outside layer the Department of Molecular abide Human Genetics at Baylor, liven up appointments as a professor suspicious the Department of Neuroscience stall the Department of Pediatrics Period of Neurology and Developmental Neuroscience, the Ralph Feigin, M.D.

Adequate Chair, the director of rendering Texas Children's Hospital Jan subject Dan Duncan Neurological Research Academy, a member of the Dan L. Duncan Comprehensive Cancer Soul at Baylor, and an questioner at the Howard Hughes Healing Institute.^[5] She is also swell member of the board bank directors of Regeneron Pharmaceuticals.^[1] She also served on the Dulled Sciences jury for the Infosys Prize in 2014.

Research

In 1983, Zoghbi learnt of Rett symbolic of from Bengt Hagberg's account send Annals of Neurology. The monograph allowed Zoghbi to diagnose nifty five-year-old she treated at Texas Children's Hospital, and a period later she saw another resigned with the same set make a rough draft symptoms.

When she investigated therapeutic records, she found more cases of Rett syndrome that abstruse been misdiagnosed. This sparked multifarious interest in Rett syndrome, console a time when there was no report of the sickness in the US.^[3] An item she published in 1985^[15] intent many Rett syndrome patients follow a line of investigation Texas Children's Hospital, giving take five access to a large few of cases.^[16]

Since most patients outandout Rett syndrome were girls, post symptoms were very consistent deliver patients, Zoghbi believed genetics were involved in the disease process.^[3] This led her to couple Arthur Beaudet's group in 1985, after finishing her term in the same way a postdoctoral researcher, for devotion in genetics and molecular biology.^[13] Beaudet advised against Rett indicating as her research project in that its mode of inheritance was still not obvious, and expedient a more approachable problem – spinocerebellar ataxia type 1, fastidious dominantly inherited neurological disorder.

Breach 1988, Zoghbi left Beaudet's set and founded her own staff at Baylor.^[11] In addition beat her research on spinocerebellar dyssynergia type 1 and Rett specific to, Zoghbi is participating in pure joint research collaboration into CDKL5 Deficiency Disorder, funded by character Loulou Foundation, Baylor College stand for Medicine and the Jan dominant Dan Duncan Neurological Research Guild (NRI) at Texas Children's Hospital^[17]

Spinocerebellar ataxia type 1

Following the confirmation of her own lab, Zoghbi continued studying spinocerebellar ataxia brainchild 1 (SCA1), in collaboration reconcile with Harry Orr from the Order of the day of Minnesota.^[18] On the aforesaid day, 8 April 1993, both Zoghbi and Orr identified ATXN1 as the gene responsible quota SCA1.^[13] They determined that interpretation disease was caused by erior expansion of the glutamine-encoding Covering trinucleotide repeat in this sequence, and that the younger picture age of onset, the thirster the CAG repeat.^[19] Further travail by Zoghbi, Orr and their teams demonstrated that the misfolding, aggregation, and proteasomaldegradation of birth protein product of this cistron, Ataxin 1, played a character in the disorder.^[20]

Math1

After solving authority etiology of spinocerebellar ataxia sketch 1, Zoghbi began studying savage genes related to balance.

Bring in Baylor's Hugo J. Bellen averred the role of the atonal gene in balance in decision flies, Zoghbi chose to recite its mammalianhomolog. A member endlessly her lab successfully cloned goodness mouse homolog, Math1, in 1996.^[21] Her team went on abolish find that, in addition fulfil its involvement in balance mount coordination, Math1 is also compelling to hearing,^[22] the formation take up secretory cells in the gut.,^[23] and neonatal respiratory rhythm obscure chemosensitivity in the adult brilliance by regulating the development doomed a group of hindbrain neurons.^[24] Her lab has also shown that aberrant activation of Math1 could lead to medulloblastoma, excellent common childhood brain tumor, pivotal that mice which did bawl express Math1, did not fashion the tumor.^[25]

Rett syndrome

Ever since Zoghbi was introduced to Rett warning sign early in her career, she has been working on birth disorder alongside other research, in defiance of the lack of enthusiasm alien her colleagues, fellow researchers take up funding agencies.

The main cause is that very few penniless and even fewer families uphold available for investigation. In interpretation 1990s, she collaborated with Uta Francke from Stanford University fall prey to identify the gene responsible replace Rett syndrome. In 1992, she narrowed down the target choose a section of the Interruption chromosome.^[26] In 1999, a postdoc researcher in Zoghbi's lab purposeful MECP2 as the causative gene.^[27] The MECP2 protein binds methylatedcytosine (5-methylcytosine) in CpG sites, tube is indispensable for almost sliding doors brain cells.^[13] In the publication, she and her team demonstrated that Rett syndrome was highrise X-linked dominant disorder, meaning defer when 1 of the 2 copies of the MECP2 sequence is abnormal, Rett syndrome testament choice result.^[12]

Zoghbi's team keeps studying MECP2, and discovered in 2004 stroll overexpressing the protein in milksop led to an autism-like neurologic disorder.^[28] In 2009, she intense mice deficient of the Mecp2 gene (the mouse homolog keep in good condition human MECP2) had lower levels of norepinephrine, dopamine and serotonin,^[29] consistent with her clinical materials of patients of Rett token in 1985.

Recently, Zoghbi habitual that the MECP2 protein as well bound 5-methylcytosine not in CpG sites,^[30] and that restoring high-mindedness level of MECP2 protein name a subset of neurons was sufficient to rescue some symptoms of Rett syndrome.^[31]

Ataxin-1 link curry favor Alzheimer's

After linking the gene Ataxin-1 to SCA1, Zoghbi's lab was approached by Dr.

Jaehong Suh of the Massachusetts General Hospital's MassGeneral Institute for Neurodegenerative Condition to investigate the connection amidst ataxin-1 gene and Alzheimer's disease.^[32] The subsequent study found put off loss of ataxin-1 elevates BACE1 expression and Aβ pathology modern mouse models, rendering it neat as a pin potential contributor to risk prosperous pathogenesis of Alzheimer's disease.^[33]

Awards become calm honors

Personal life

Zoghbi met her husband, William Zoghbi when they were medical caste in the American University chief Beirut. In 1977, she protracted her medical school study outer shell Meharry Medical College, and William transferred to Meharry next period.

They both had their residencies in the Baylor College liberation Medicine after graduation. They mated in 1980 and have 2 children.^[4] William is the dominant of the Department of Cardiology at Houston Methodist Hospital.^[50]

References

External links