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Alice Lazzarini

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Alice Lazzarini (b. 1940 in Montclair, New Jersey) is a scientist and author. An internationally recognized researcher in neurogenetic disorders, she is an assistant professor of Neurology at Rutgers-Robert Wood Johnson Medical School.

Huntington Disease

For eleven years (1979-1990) Lazzarini developed and coordinated a statewide program for Huntington disease (HD) patients and their families, New Jersey’s Samuel L. Baily Huntington’s Disease Family Service Center. This became a model for service provision throughout the country. Once predictive genetic testing became available for HD, she participated in the development of a standardized testing protocol. She served on the Board of Trustees of the Foundation for the Care and Cure of Huntington’s Disease.

Machado-Joseph Disease Research

Alice Lazzarini and Dr. Thomas Zimmerman with their poster for Machado-Joseph ataxia at the American Academy of Neurology meeting, 1992

Recruited in 1990 to study ataxia as part of Robert Wood Johnson Medical School’s new William Dow Lovett Center for Neurogenetics, she expanded the previously reported “W” family through 11 generations and used DNA testing to exclude the accepted nosology. [1] She then identified the causative gene in this family as being that for Machado-Joseph disease or Spino-cerebellar Ataxia type 3 (SCA3).

Lazzarini is published as well in the fields of X-linked mental retardation and other neurologic disorders such as Restless leg syndrome, Charcot–Marie–Tooth neuropathy, and prion diseases.She has been a contributor as well to the literature on Genetic Counseling. [2]

Parkinson Disease

In 1994 Lazzarini published a paper that helped to turn the tide of thinking toward a genetic component to Parkinson disease. [3] Collecting samples from patients as far away as the small village of Contursi, Italy, she was a member of the team that reported the first Parkinson disease-causing mutation (PARK1) in the brain protein, alpha-synuclein. These findings were reported in Science and made national headlines. [4] [5][6] The New York Times noted that “scientists said that finding a site for the gene should help in finding other genetic factors that contribute to Parkinson's disease, which should eventually help in developing diagnostic tests and treatments.” [7][8]

Immediately after the report of PARK1, alpha-synuclein was discovered to be the major component of Lewy bodies within brain cells of Parkinson disease patients.[9] From the mid-80’s, the tau protein had been recognized as a major component of neurofibrillary tangles inside brain cells of Alzheimer’s disease patients. In 1997, Lazzarini was the first to report the association of the tau protein with Parkinson disease,[10] an association that held up in a subsequent meta-analysis,[11] and has remained strong in genome-wide association studies.[12]

The mechanism by which tau and alpha-synuclein interact is under investigation.

Lazzarini is a member of The GenePD Study, a twenty-site research collaboration to identify genetic factors influencing Parkinson disease.[13]

Parkinson Disease Diagnosis

In 2004, Lazzarini was diagnosed with Parkinson disease, the very disease she had spent a decade researching. Her memoir, Both Sides Now, A Journey From Researcher to Patient, chronicles her journey since being diagnosed. She also posts about this on her blog, www.park1place.wordpress.com, which is named for the first mutation found to cause Parkinson’s.

Awards

  • Diplomate, American Board of Medical Genetics, Genetic Counseling
  • University of Medicine and Dentistry of New Jersey University Excellence Award Biomedical Research - Contursi Kindred Collaborative Group
  • Postdoctoral Fellowship, Governor’s Council on the Prevention of Mental Retardation and Developmental Disabilities
  • Lazzarini's blog on her experience as a Parkinson’s patient: www.park1place.wordpress.com
  • Lazzarini has published in Goldfinch, The Literary Journal of Women Who Write, and regularly contributes articles about the history of Mendham for her community newsletter, Commons Knowledge. She chronicles her journey from researcher to patient in a memoir, Both Sides Now, A Journey From Researcher to Patient.
  • Joan Witlow, “Scientists Seek Cure for OPCA, Patient’s Family Tree Yields Clues to Genetic Ailment,” The Star-Ledger, February 24, 1991.
  • “Search For the Gene,” UMDNJ Magazine (University of Medicine and Dentistry of New Jersey, published Fall 1995)
  • Kitta MacPherson, “Unlocking Secrets of Parkinson’s,” The Star-Ledger, November 15, 1996.
  • "NIH and UMDNJ Researchers Localize Gene For Parkinson’s Disease", press release from University of Medicine and Dentistry of New Jersey, 11/15/1996.
  • Jacobs, Eve, "Gene Hunter", UMDNJ Magazine (University of Medicine and Dentistry of New Jersey, published Fall 2004) I (II), retrieved 2008-05-30.

References

  1. ^ Lazzarini A, Zimmerman TR, et al. (1992) A 17th-century founder gives rise to a large North American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6, Neurology 42:2118-2124.
  2. ^ Lazzarini A and Lou JQ. (2002) “Genetic Counseling”, in GENETICS Challenges and Opportunities for Health Care Professionals, ed. Jennie Q. Lou. Kendall/Hunt Publishing Company, Dubuque, IA. pp 63-84.
  3. ^ Lazzarini AM, Myers RH, et al. (1994) “A Clinical Genetic Study of Parkinson’s Disease: Evidence for Dominant Transmission” Neurology 44:499-506.
  4. ^ Polymeropoulos MH, Higgins JJ, et al. (1996), "Mapping of a gene for Parkinson's disease to chromosome 4q21-q23", Science 274: 1197–1100
  5. ^ Polymeropoulos MH, Lavedan C, et al. (1997), "Mutation in the alpha-Synuclein Gene Identified in Families with Parkinson’s Disease" Science 276:2045-2047.
  6. ^ Jacobs, Eve (2004), "Gene Hunter", UMDNJ Magazine (University of Medicine and Dentistry of New Jersey, published Fall 2004) I (II), retrieved 2008-05-30.
  7. ^ "Scientists Identify Site of Gene Tied to Some Cases of Parkinson's" New York Times11/15/1996. Quote is from this article.
  8. ^ "Family Gene Is Linked To Parkinson's Disease" New York Times 6/26/1997.
  9. ^ Spillantini MG, Schmidt ML, et al. (1997) Nature 388(6645): 839-40.
  10. ^ Lazzarini AM, Golbe LI, et al. (1997) “Tau Intronic Polymorphism in Parkinson’s Disease and Progressive Supranuclear Palsy” Neurology 48, A427.
  11. ^ Golbe LI, Lazzarini AM, et al. (2001) “The tau AO Allele in Parkinson’s Disease” Movement Disorders 16:442-447.
  12. ^ Pankratz N, Beecham GW, et al. (2012) Ann Neurol 71(3):370-384.
  13. ^ National Institute of Health, "Genome-wide scan for Parkinson's disease: the GenePD Study" Neurology. 2001 Sep 25;57(6):1124-6.
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