Alice M. Lazzarini is a scientist, author and researcher on

neurogenetic Neurogenetics studies the role of genetics in the development and function of the nervous system. It considers neural characteristics as phenotypes (i.e. manifestations, measurable or not, of the genetic make-up of an individual), and is mainly bas ...

disorders, including

Huntington's disease Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unst ...

and

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 ...

. She is an assistant professor of Neurology at Rutgers

Robert Wood Johnson Medical School Rutgers Robert Wood Johnson Medical School is a medical school of Rutgers University. It is one of the two graduate medical schools of Rutgers Biomedical and Health Sciences, together with New Jersey Medical School, and is closely aligned with Ro ...

(RWJMS, previously known as

University of Medicine and Dentistry of New Jersey The University of Medicine and Dentistry of New Jersey (UMDNJ) was a state-run health sciences institution of New Jersey, United States. It was founded as the Seton Hall College of Medicine and Dentistry in 1954, and by the 1980s was both a major ...

or UMDNJ), where her work helped establish the genetic basis of Parkinson's. Later in life, she was diagnosed with Parkinson's—the very disease she had spent decades researching.

Huntington's disease

Lazzarini is a geneticist, who worked in New Jersey as a genetics counselor and coordinator at Middlesex General-University Hospital's Huntington's Disease Family Service Center, serving individuals with HD and their families. ''The News Tribune'' said in 1985 that it was "one of a handful of multi-disciplinary facilities in the country where various specialists join dforces to address the problems faced by victims and their relatives ... serv ngmore than 200 families since its opening in 1979". Lazzarini helped lobby the New Jersey assembly for a bill to establish a residential facility for HD patients.

Genetic disease research

Lazzarini was recruited in 1990 to study

ataxia Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of ...

as part of the RWJMS new William Dow Lovett Center for Neurogenetics. In the early 90s, she was a member of the team studying

neurodegenerative A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic ...

syndromes including

olivopontocerebellar atrophy Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain – the cerebellum, pons, and inferior olivary nucleus. OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited ...

(a degeneration of neurons in the brain present in syndromes such as Machado-Joseph disease) and

spinocerebellar ataxia Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of s ...

(SCA). To study the causes of SCA, the researchers first had to locate a family having a large number of members with the disease; according to UMDNJ, Lazzarini "established a pedigree that may be the largest in North America". One of Lazzarini's patients had located family records that led to a hundreds of individuals in one family encompassing eight generations and including 21 members who had the disease. Lazzarini located another physician who was following a distant cousin of the same family, yielding a combined pedigree of thousands of family members dating to the 17th century. In the 1995 ''"W" Family Newsletter'' published by the UMDNJ-RWJMS Department of Neurology, Division of Neurogenetics, Lazzarini wrote: "We have found the 'W' hipplefamily gene! ... While observing large family trees with many individuals having ataxia, Lazzarini noticed that many family members also had

restless legs syndrome Restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), is generally a long-term disorder that causes a strong urge to move one's legs. There is often an unpleasant feeling in the legs that improves somewhat by moving them. This ...

. Lazzarini is published in the fields of

X-linked intellectual disability X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. Females with one aff ...

and other neurologic disorders such as

Charcot–Marie–Tooth disease Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the mos ...

, and

prion diseases Prions are Proteinopathy, misfolded proteins that have the ability to transmit their misfolded shape onto normal variants of the same protein. They characterize several fatal and transmissible neurodegenerative diseases in humans and many othe ...

. She has been a contributor as well to the literature on genetic counseling.

Parkinson's disease

Lazzarini was a member of The GenePD Study, a 20-site research collaboration to identify genetic factors influencing

Parkinson disease Parkinson may refer to: *Parkinson (surname) * ''Parkinson'' (TV series), British chat show, presented by Sir Michael Parkinson *Parkinson, Queensland, suburb of Brisbane, Australia *The Parkinsons (fl. early 20th century), American father-and-son ...

(PD). Studying familial aggregation in a large group of family members with PD, she determined that a subset of Parkinson's cases are familial. She was the head author on a paper published in 1994 pinpointing a genetic component to PD; according to the UMDNJ Science blog, "she defined the pattern of inheritance in 80 multicase families". Years earlier, the neurology clinic at RWJMS had located a family of Italian origin that encompassed at least five generations of more than 400 individuals and at least 60 members with PD. Lazzarini began studying the family whose ancestors were traced to the small village of Contursi, Italy. In 1995, the RWJMS team joined with the National Center for Human Genome Research at the

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 ...

to take advantage of the laboratory resources available from the NIH in an effort to locate the gene causing PD in the Contursi family. Collecting samples from patients in Italy, Lazzarini was a member of the team that reported the first Parkinson disease-causing mutation (PARK1) in the brain protein,

alpha-synuclein Alpha-synuclein is a protein that, in humans, is encoded by the ''SNCA'' gene. Alpha-synuclein is a neuronal protein that regulates synaptic vesicle trafficking and subsequent neurotransmitter release. It is abundant in the brain, while smaller a ...

. Lazzarini worked with the Italian ''Instituto de Scienze Neurologiche'' to get blood samples from the family members in Italy whose relatives in the US were also being studied; she "pounded the pavement" to get samples from strangers, sometimes meeting resistance. Once she "witnessed what seemed to be a vicious argument, carried out in Italian with hand gestures aplenty"; the 80-year-old woman whose sample was needed was afraid of needles, but eventually allowed her blood to be taken. The findings by the team, including scientists from the NIH and UMDNJ-RWJMS, were published in ''

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 ...

'' magazine. The ''New York Times'' reported 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". For ten years, Lazzarini and her colleagues had studied several generations of the large Italian-American family to establish the genetic basis of PD; "they believed that fragments of alpha-synuclein bind to other proteins to form the Lewy body, an insoluble proteinaceous material characteristic of Parkinson's disease". In less than a year, the NIH and the UMDNJ-RWJMS team of Roger Duvoisin, William Johnson, Lawrence Golbe and Alice Lazzarini, working with the NIH and colleagues in Italy, had linked PD to DNA markers on chromosome 4. Within days of the publication of the PARK1 findings, alpha-synuclein was discovered to be the major component of

Lewy bodies Lewy bodies are the inclusion bodies – abnormal aggregations of protein – that develop inside nerve cells affected by Parkinson's disease (PD), the Lewy body dementias ( Parkinson's disease dementia and dementia with Lewy bodies (DLB)), and ...

within brain cells of PD patients; according to the UMDNJ magazine, "This discovery changed the direction of research into PD by providing scientists with an entirely new protein whose manufacture, function or breakdown could be the key to the disease."

Personal life

Lazzarini was diagnosed with PD, the very disease she had spent a decade researching. She published a memoir chronicling her journey since being diagnosed.

References

External links

*
Lazzarini's blog
on her experience as a Parkinson's patient {{DEFAULTSORT:Lazzarini, Alice American geneticists Parkinson's disease researchers People with Parkinson's disease University of Medicine and Dentistry of New Jersey faculty Living people Year of birth missing (living people)