Erika F. Augustine

Last updated
Erika F. Augustine
NationalityAmerican
Alma mater Harvard University
University of Rochester Medical Center
Known forStudying neuronal ceroid lipofuscinoses and using telemedicine to provide remote care for rare diseases
Awards2023 Recipient of the Sidney Carter Award in Neurology, 2017 A. B. Baker Teaching Recognition, 2013 Faculty Teaching Award
Scientific career
FieldsNeurology, pediatrics
InstitutionsKennedy Krueger Institute
University of Rochester Medical Center

Erika F. Augustine is an Associate Chief Science Officer and Director of the Clinical Trials Unit at Kennedy Krieger Institute. She was previously an Associate Professor of Neurology and Pediatrics at the University of Rochester Medical Center in Rochester, New York. Augustine co-directed the University of Rochester Batten Center, and was the associate director of both the Center for Health and Technology and the Udall Center of Excellence in Parkinson's Disease Research. Augustine's clinical research and medical practice specialize in pediatric movement disorders. She leads clinical trials for Batten diseases, a group of rare pediatric neurodegenerative disorders, and she has developed a novel telemedicine model to increase the efficacy of remote care for patients with rare diseases.

Contents

Early life and education

Augustine pursued her undergraduate education at Harvard University. [1] She majored in Biological Anthropology and graduated with a Bachelor of Arts in 1999. [1] Following the completion of her undergraduate degree, she attended the University of Rochester for medical school. [2] She obtained her MD in 2003, and then moved back to Boston to pursue her residency training at the Boston Children's Hospital. In 2008, she completed her residency training in Pediatrics and Child Neurology and then moved back to Rochester for her Fellowships. [2] In 2009, she completed a fellowship in Experimental Therapeutics, and in 2010, she completed a fellowship in pediatric movement disorders. She then completed her Masters of Science in Translational Research at the University of Rochester in 2014. [2]

Career and research

In 2012, Augustine was appointed to Assistant Professor of Neurology, Pediatrics, and the Center for Health and Technology at the University of Rochester Medical Center (URMC). [2] In 2013, she became the Assistant Program Director for the Experimental Therapeutics of Neurological Disorders Fellowship and in 2015 she became the associate director of the Center for Health and Technology at URMC. [2] In 2017, she was promoted to Associate Professor of Neurology, Pediatrics, and the Center for Human Experimental Therapeutics. [3] In 2018, URMC was selected by the National Institutes of Health to house the Morris K. Udall Center of Excellence in Parkinson's Disease Research and Augustine became a member of the executive committee, specifically the associate director of the center, where she serves as a principal investigator on FDA funded clinical trials. [4]

Outside of URMC, Augustine is a member of the National Institutes of Health Taskforce on Childhood Motor Disorders. [1] She also bridges translational research with the clinic by working as a consultant to the Food and Drug Administration Neurological Devices Panel to expedite the use of informative wearable technologies in gathering data in patients with neurological diseases to track disease and recovery. [1] She is also the Diversity Officer for the new NIH based Child Neurologist Career Development Program K12 (CNCD-K12) where she reviews applications of clinician-scientists to receive funding. [5] She also organizes and oversees the Minority Research Scholars Program through the CNCDP-K12 which provides travels awards to individuals to attend the Neurobiology of Disease in Children Symposium and the Child Neurology Society Annual Meeting. [5] In addition, Augustine is the Chair of the Scientific Program Committee for planning the Child Neurology Symposium. [6] Augustine is also a member of NeuroNEXT, a network distributed across institutions and funded by the National Institutes of Neurological Disorders to focus on expediting the development of therapies for neurological disorders. [3] Augustine has been featured on several media platforms such as WXXINews to discuss her research on rare neurological diseases [7] and she has also been a panelist on Second Opinion TV. [1]

Novel treatments for rare neurological Diseases

Since rare and orphan diseases are highly understudied and patients with these diseases face very few, if any, treatments or cures, Augustine has dedicated much of for clinical research to understanding these diseases and developing therapies to treat them. [3] She focuses on neuronal ceroid lipofuscinoses (NCLs) or Batten diseases, which are a group of rare pediatric neurodegenerative disorders showing symptoms similar to dementia and parkinsons, often with blindness, seizures, and motor impairment.  [8] Her work has helped to elucidate the distinct characteristics of juvenile NCLs, in that they do not show myoclonic seizures to the same extent as other subsets of NCLs. [8] Augustine has also begun to pilot studies of remote assessment of disease symptoms and progression through audiovisual technological assessment of neuropsychological symptoms. [9] This work is critical since patients often have to travel from far distances to seek specialized treatment for NCLs, so remote data and disease monitoring would greatly enhance the quality of care and treatment. [9] After characterizing the disorder and exploring ways to track disease progress, Augustine has taken steps towards elucidating pharmacological compounds to better target disease causes and treat symptoms in NCL patients. [10] Data shows that inflammation and autoimmunity are characteristic of NCLs, so Augustine tested mycophenolate on patients with NCL, an immunosuppressant, to first see how short term administration was tolerated. [10] She found that immunosuppression through mycophenolate was well tolerated in patients and they are now moving on to long term clinical trials to test the efficacy in reducing NCL symptoms. [10]

Remote rare disease monitoring

Since remote disease monitoring is critical to effectively treating patients with rare disorders, who often do not live close to specialized clinic where they seek treatment and health management, Augustine has been exploring novel ways to best provide remote care to these patients. She has explored how telemedicine performs as a means of administering the Unified Batten Disease Rating Scale (UBDRS) Physical Impairment subscale to assess disease severity. [11] Using live video, patients are assessed by trained examiners, and they found that this method works well to diagnose disease severity in patients with Batten Diseases. [11] Following up on this work, Augustine and her colleagues have developed a revised model for care for rare diseases, since the patient population and needs are different from common diseases where local care delivery is much more feasible. [12] Her model includes the use of telehealth to remove geographic barriers to healthcare access while also enhancing for data collection and patient-provider-researcher communication. [12]

Sex differences in neurological disease

Augustine's research has also explored sex differences in neurological diseases. [13] Anecdotal evidence from parents had suggested that females experience increased severity of Batten Disease symptoms, so Augustine sought to explore this further. [13] She found that Females, on average, had later disease onset and earlier death in addition to an earlier loss in functional capability. [13] Augustine has also explored sex differences in Parkinson's Disease. [14] She has found that, overall, men and women do not exhibit differences in clinical motor impairment in the early course of the disease. [14] She did observe differences in non-motor symptoms such as cognition, depression, and sleep disturbances. [14]

Awards and honors

Select publications

Related Research Articles

<span class="mw-page-title-main">Parkinsonism</span> Medical condition

Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia, rigidity, and postural instability. Both hypokinetic as well as hyperkinetic features are displayed by Parkinsonism.These are the four motor symptoms found in Parkinson's disease (PD) – after which it is named – dementia with Lewy bodies (DLB), Parkinson's disease dementia (PDD), and many other conditions. This set of symptoms occurs in a wide range of conditions and may have many causes, including neurodegenerative conditions, drugs, toxins, metabolic diseases, and neurological conditions other than PD.

<span class="mw-page-title-main">Progressive supranuclear palsy</span> Medical condition

Progressive supranuclear palsy (PSP) is a late-onset neurodegenerative disease involving the gradual deterioration and death of specific volumes of the brain. The condition leads to symptoms including loss of balance, slowing of movement, difficulty moving the eyes, and cognitive impairment. PSP may be mistaken for other types of neurodegeneration such as Parkinson's disease, frontotemporal dementia and Alzheimer's disease. The cause of the condition is uncertain, but involves the accumulation of tau protein within the brain. Medications such as levodopa and amantadine may be useful in some cases.

Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).

<span class="mw-page-title-main">Neuronal ceroid lipofuscinosis</span> Medical condition

Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem "lipo-", which is a variation on lipid, and from the term "pigment", used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.

Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease or Hagberg-Santavuori disease or Santavuori-Haltia disease or Infantile Finnish type neuronal ceroid lipofuscinosis or Balkan disease is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982, perhaps 100 with the condition in total today – but relatively common in Finland due to the local founder effect.

Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.

<span class="mw-page-title-main">Neurodegenerative disease</span> Central nervous system disease

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 lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, tauopathies, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies and induced cell death. These similarities suggest that therapeutic advances against one neurodegenerative disease might ameliorate other diseases as well.

<span class="mw-page-title-main">Battenin</span> Protein-coding gene in the species Homo sapiens

Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16. Battenin is not clustered into any Pfam clan, but it is included in the TCDB suggesting that it is a transporter. In humans, it belongs to the atypical SLCs due to its structural and phylogenetic similarity to other SLC transporters.

<span class="mw-page-title-main">Tripeptidyl peptidase I</span> Protein-coding gene in the species Homo sapiens

Tripeptidyl-peptidase 1, also known as Lysosomal pepstatin-insensitive protease, is an enzyme that in humans is encoded by the TPP1 gene. TPP1 should not be confused with the TPP1 shelterin protein which protects telomeres and is encoded by the ACD gene. Mutations in the TPP1 gene leads to late infantile neuronal ceroid lipofuscinosis.

<span class="mw-page-title-main">CLN6</span> Protein-coding gene in humans

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.

<span class="mw-page-title-main">CLN5</span> Protein-coding gene in humans

Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.

<span class="mw-page-title-main">CLN8</span> Protein-coding gene in humans

Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.

<span class="mw-page-title-main">Jansky–Bielschowsky disease</span> Medical condition

Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. It is caused by the accumulation of lipopigments in the body due to a deficiency in tripeptidyl peptidase I as a result of a mutation in the TPP1 gene. Symptoms appear between ages 2 and 4 and consist of typical neurodegenerative complications: loss of muscle function (ataxia), drug resistant seizures (epilepsy), apraxia, development of muscle twitches (myoclonus), and vision impairment. This late-infantile form of the disease progresses rapidly once symptoms are onset and ends in death between age 8 and teens. The prevalence of Jansky–Bielschowsky disease is unknown; however, NCL collectively affects an estimated 1 in 100,000 individuals worldwide. Jansky–Bielschowsky disease is related to late-infantile Batten disease and LINCL, and is under the umbrella of neuronal ceroid lipofuscinosis.

<span class="mw-page-title-main">Parkinson's disease</span> Long-term neurodegenerative disease

Parkinson's disease (PD), or simply Parkinson's, is a long-term neurodegenerative disease of mainly the central nervous system that affects both the motor system and non-motor systems. The symptoms usually emerge slowly, and as the disease progresses, non-motor symptoms become more common. Usual symptoms are tremor, slowness of movement, rigidity, and difficulty with balance, collectively known as parkinsonism. Parkinson's disease dementia, falls and neuropsychiatric problems such as sleep abnormalities, psychosis, mood swings, or behavioral changes may arise in advanced stages.

A Finnish heritage disease is any genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Northern Sweden (Meänmaa) and Northwest Russia. There are 36 rare diseases regarded as Finnish heritage diseases. The diseases are not restricted to Finns; they are genetic diseases with far wider distribution in the world, but due to founder effects and genetic isolation they are more common in Finns.

<span class="mw-page-title-main">Northern epilepsy syndrome</span> Medical condition

Northern epilepsy syndrome (NE), or progressive epilepsy with mental retardation (EPMR), is a subtype of neuronal ceroid lipofuscinosis and a rare disease that is regarded as a Finnish heritage disease. Unlike most Finnish heritage diseases, this syndrome has been reported only in Finland. The disease is characterized by seizures in early childhood that progressively get worse until after puberty. Once the onset of seizures occurs, mental degradation is seen. This continues into adulthood, even after seizure frequency has decreased. The cause of the disease is a missense mutation on chromosome 8. The creation of a new protein occurs, and the lipid content of the brain is altered because of it. The ratio of the mutation carriers is 1:135. There is nothing that has been found to stop the progression of the disease, but symptomatic approaches, such as the use of benzodiazepines, have helped control seizures.

<span class="mw-page-title-main">Kufor–Rakeb syndrome</span> Medical condition

Kufor–Rakeb syndrome (KRS) is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9). It is named after Kufr Rakeb in Irbid, Jordan. Kufor–Rakeb syndrome was first identified in this region in Jordan with a Jordanian couple's 5 children who had rigidity, mask-like face, and bradykinesia. The disease was first described in 1994 by Najim Al-Din et al. The OMIM number is 606693.

Kufs disease is one of many diseases categorized under a disorder known as neuronal ceroid lipofuscinosis (NCLs) or Batten disease. NCLs are broadly described to create problems with vision, movement and cognitive function. Among all NCLs diseases, Kufs is the only one that does not affect vision, and although this is a distinguishing factor of Kufs, NCLs are typically differentiated by the age at which they appear in a patient

Cerliponase alfa, marketed as Brineura, is an enzyme replacement treatment for Batten disease, a neurodegenerative lysosomal storage disease. Specifically, Cerliponase alfa is meant to slow loss of motor function in symptomatic children over three years old with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). The disease is also known as tripeptidyl peptidase-1 (TPP1) deficiency, a soluble lysosomal enzyme deficiency. Approved by the United States Food and Drug Administration (FDA) on 27 April 2017, this is the first treatment for a neuronal ceroid lipofuscinosis of its kind, acting to slow disease progression rather than palliatively treat symptoms by giving patients the TPP1 enzyme they are lacking.

Sara Elizabeth Mole Crowley is a Professor of Molecular Cell Biology and Provost's Envoy for Gender Equality at University College London and the Great Ormond Street Hospital. She works on diseases caused by genetic changes, in particular neurodegenerative diseases that impact children.

References

  1. 1 2 3 4 5 "Panelist: Erika F. Augustine, MD | Second Opinion". www.secondopinion-tv.org. Retrieved 2020-06-14.
  2. 1 2 3 4 5 6 7 8 9 "Erika U. Augustine, M.D. - University of Rochester Medical Center". www.urmc.rochester.edu. Retrieved 2020-06-14.
  3. 1 2 3 "Erika Augustine, MD, MS | NeuroNEXT". neuronext.org. Retrieved 2020-06-14.
  4. ↑ "Leadership". Udall Center at the University of Rochester. Retrieved 2020-06-14.
  5. 1 2 "Kennedy Krieger Institute". Kennedy Krieger Institute. Retrieved 2020-06-14.
  6. ↑ "Connections: Bridging CNS Members Together to Make Children's Lives Better" (PDF). childneurologysociety.org. 2019. Retrieved June 12, 2020.
  7. ↑ "YouTube". www.youtube.com. Retrieved 2020-06-14.
  8. 1 2 Augustine, Erika F.; Adams, Heather R.; Beck, Christopher A.; Vierhile, Amy; Kwon, Jennifer; Rothberg, Paul G.; Marshall, Frederick; Block, Robert; Dolan, James; Mink, Jonathan W.; Batten Study Group (April 2015). "Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis". Developmental Medicine and Child Neurology. 57 (4): 366–371. doi:10.1111/dmcn.12634. ISSN   1469-8749. PMC   4610252 . PMID   25387857.
  9. 1 2 Ragbeer, Shayne N.; Augustine, Erika F.; Mink, Jonathan W.; Thatcher, Alyssa R.; Vierhile, Amy E.; Adams, Heather R. (March 2016). "Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability". Journal of Child Neurology. 31 (4): 481–487. doi:10.1177/0883073815600863. ISSN   1708-8283. PMC   4749443 . PMID   26336202.
  10. 1 2 3 Augustine, Erika F.; Beck, Christopher A.; Adams, Heather R.; Defendorf, Sara; Vierhile, Amy; Timm, Derek; Weimer, Jill M.; Mink, Jonathan W.; Marshall, Frederick J. (2019). "Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)". JIMD Reports. 43: 117–124. doi:10.1007/8904_2018_113. ISBN   978-3-662-58613-6. ISSN   2192-8304. PMC   6323012 . PMID   29923092.
  11. 1 2 Cialone, J.; Augustine, E. F.; Newhouse, N.; Vierhile, A.; Marshall, F. J.; Mink, J. W. (2011-11-15). "Quantitative telemedicine ratings in Batten disease: implications for rare disease research". Neurology. 77 (20): 1808–1811. doi:10.1212/WNL.0b013e3182377e29. ISSN   1526-632X. PMC   3233206 . PMID   22013181.
  12. 1 2 Augustine, Erika F.; Dorsey, E. Ray; Saltonstall, Peter L. (2017-09-01). "The Care Continuum: An Evolving Model for Care and Research in Rare Diseases". Pediatrics. 140 (3): e20170108. doi: 10.1542/peds.2017-0108 . ISSN   0031-4005. PMID   28818836.
  13. 1 2 3 Cialone, Jennifer; Adams, Heather; Augustine, Erika F.; Marshall, Frederick J.; Kwon, Jennifer M.; Newhouse, Nicole; Vierhile, Amy; Levy, Erika; Dure, Leon S.; Rose, Katherine R.; Ramirez-Montealegre, Denia (May 2012). "Females experience a more severe disease course in Batten disease". Journal of Inherited Metabolic Disease. 35 (3): 549–555. doi:10.1007/s10545-011-9421-6. ISSN   1573-2665. PMC   3320704 . PMID   22167274.
  14. 1 2 3 Augustine, Erika F.; Pérez, Adriana; Dhall, Rohit; Umeh, Chizoba C.; Videnovic, Aleksandar; Cambi, Franca; Wills, Anne-Marie A.; Elm, Jordan J.; Zweig, Richard M.; Shulman, Lisa M.; Nance, Martha A. (2015). "Sex Differences in Clinical Features of Early, Treated Parkinson's Disease". PLOS ONE. 10 (7): e0133002. Bibcode:2015PLoSO..1033002A. doi: 10.1371/journal.pone.0133002 . ISSN   1932-6203. PMC   4501841 . PMID   26171861.
  15. ↑ "About | Child Neurologist Career Development Program". Kennedy Krieger Institute. Retrieved 2020-06-14.
  16. ↑ "Teaching and Innovation Awards". www.aan.com. Retrieved 2020-06-14.
  17. ↑ "Faculty - Child Neurology Residency - Prospective Residents - Graduate Medical Education - Education - University of Rochester Medical Center". www.urmc.rochester.edu. Retrieved 2020-06-14.
  18. 1 2 3 4 5 6 7 8 9 10 "Augustine EF - Search Results". PubMed. Retrieved 2020-06-14.
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