Enza Maria Valente: Pursuing Parkinson Disease

Credit: JASON VARNEY/http://www.varneyphoto.comVARNEYPHOTO.COM" /> Credit: JASON VARNEY/http://www.varneyphoto.comVARNEYPHOTO.COM As a medical student at Catholic University in Rome, Enza Maria Valente remembers helping her genetics professor, a priest in his sixties, as he struggled to calculate probabilities for passing on a genetic disorder. "I would just pick up the answer even before he finished the calculations," she says.Despite her pedigree predilection, Va

Eugene Russo
Apr 1, 2006
<figcaption> Credit: JASON VARNEY/http://www.varneyphoto.comVARNEYPHOTO.COM</figcaption>
Credit: JASON VARNEY/http://www.varneyphoto.comVARNEYPHOTO.COM

As a medical student at Catholic University in Rome, Enza Maria Valente remembers helping her genetics professor, a priest in his sixties, as he struggled to calculate probabilities for passing on a genetic disorder. "I would just pick up the answer even before he finished the calculations," she says.

Despite her pedigree predilection, Valente didn't enter the field - not yet anyway. Hailing from a family of physicians, her mother, a pediatrician, strongly encouraged Valente to take over the family practice. She resisted, pursuing neurophysiology instead. But, she says she got bored just seeing patients, save the occasional unusual phenotype.

She started working on movement disorders with a group at her university. When they needed someone to go to University College London (UCL) to study a collection of Italian families that carried genes for dystonia, Valente jumped at the chance. With encouragement from her London colleagues, Valente...

In the late 1990s, the first Parkinson disease (PD) genes were identified, and an avalanche of papers ensued. "It was so exciting," she says. "You would just find one new mutation and you would publish [in] Science or Nature Genetics." Valente began work on a large Sicilian family with PD.

Age: 33

Full Title: Junior group leader of the neurogenetics group at the CSS-Mendel Institute in Rome

Representative Publications:

1. E.M. Valente et al., "Hereditary early-onset Parkinson's disease caused by mutations in PINK1," Science, 304:1158-60, 2004. (Cited in 156 papers)

2. E.M. Valente et al., "Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36," Am J Hum Genet, 68:895-900, 2001. (Cited in 126 papers)

Having finished her doctorate, however, Valente longed to return to Rome despite the temptations of more generous research support in British and American labs. In Italy, salaries are low, grants are scarce, and, says Valente, money is often distributed to the big names, not necessarily the best research. "We were a little worried about her," says Kailash Bhatia, a UCL colleague and a professor of clinical neurology. Italian science, and neurology in particular, he adds, is quite male-dominated.

Valente found a temporary spot at a lab in Rome and, more importantly, a chance to prove herself. She delivered in 2004 with the discovery of a PD gene called PTEN-induced kinase 1 (PINK1).1 Though present in only 2% of patients with PD, PINK1 has the potential to be an important part of the complex PD puzzle, Valente says.

She's just as excited about another project. Her lab is one of the few that studies Joubert syndrome, a rare congenital disorder linked to a malformation in the cerebellum and brain stem. She's co-organizing one of the first Joubert research conferences in November. Valente's strength, says Bhatia, lies in her ability to speak to both geneticists and neurologists. "It gives her an edge," he says.

Soon, Valente will begin splitting her time between Rome and a university in Sicily where she'll teach genetics. Chuckling, she wonders if some young upstart student will correct her if she botches a genetics calculation.