Janel Johnson Ph.D.

Molecular Geneticist experienced in Neuroscience, Oncology, Immunology, and Intellectual Property

New York, New York, United States of America

Research Expertise

Genetics
Neurodegeneration
Amyotrophic Lateral Sclerosis
Frontotemporal Demetia
Next Generation Sequencing

About

Dr. Janel Johnson is a distinguished Biologist with over 20 years of dedicated academic research focused on the genetics of Neuroscience, Oncology, and Immunology. She obtained her BA in Biology from The Johns Hopkins University in 1999, following which she conducted groundbreaking research at The Johns Hopkins University Sidney Kimmel Cancer Center. Here, she explored the selective cytotoxic effects of a tyrosine kinase inhibitor in a transgenic mouse model of acute myeloid leukemia. Transitioning to The National Institutes of Health (NIH), Dr. Johnson continued her impactful career, making significant contributions to the study of Alzheimer’s disease and Parkinson's disease genetics. Sponsored by the NIH, she pursued her MPhil and PhD in Molecular Genetics at University College London, focusing on unraveling the genetic basis of Spinocerebellar Ataxia (SCA) and Childhood Motor Neuron Disease. Notably, her research elucidated that mutations in the Tau Tubulin Kinase 2 gene cause SCA Type 11, and she identified riboflavin transporter mutations as the underlying cause of Childhood Motor Neuron Disease, highlighting the potential for vitamin B2 supplementation as a therapeutic intervention. Furthering her postgraduate research at NIH, Dr. Johnson delved into investigating the genetics of Amyotrophic Lateral Sclerosis (ALS) and related motor neuron disorders. Her seminal findings uncovered that mutations in genes such as Valosin Containing Protein, Matrin-3, and a serine palmitoyltransferase subunit contribute to the pathogenesis of ALS, shedding light on overlapping pathways and pleiotropic effects on other diseases. In addition to her extensive research endeavors, Dr. Johnson has made significant strides in HIV research at the Walter Reed Army Institute of Research, utilizing novel multiomics technologies to investigate interactions between the retrovirus and host cells. Her recent experience in immunology includes serving as a Patent Examiner for the United States Patent and Trademark Office, where she evaluated inventions for cancer immunotherapy. Dr. Johnson is widely recognized in the field of molecular genetics for her expertise and numerous scientific breakthroughs, contributing significantly to our understanding of complex disorders. She is deeply passionate about research and serves as a vocal advocate for diversity, equity, and inclusion (DEI) in science and healthcare. Dr. Johnson's exceptional talent lies in her ability to effectively communicate scientific concepts to both experts and the general public. Her lifelong commitment is to achieve DEI for genetic populations that have been traditionally understudied.

Legacy Map

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Publications

α-Synuclein Locus Triplication Causes Parkinson's Disease
Science
2003
Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
Neuron
2004
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Neuron
2010
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Yearbook of Neurology and Neurosurgery
2012
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Nature Neuroscience
2014
Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation
Annals of Neurology
2003
Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease
Archives of Neurology
2004
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
Nature Genetics
2007
A Genome-Wide Association Study of Myasthenia Gravis
JAMA Neurology
2015
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
Brain
2012
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
Brain
2014
Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene
Archives of Neurology
2011
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2
Annals of Neurology
2005
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
Neurobiology of Aging
2012
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12
Human Mutation
2013
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies
Neurology
2004
Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia
JAMA Neurology
2015
SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia
Archives of Neurology
2011
Exome Sequencing in Brown-Vialetto-Van Laere Syndrome
The American Journal of Human Genetics
2010
Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants
European Journal of Neurology
2007
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
Neurobiology of Aging
2015
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
Neurology
2012
Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years
Movement Disorders
2005
Assessment of a DJ-1 ( PARK7 ) polymorphism in Finnish PD
Neurology
2003
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients
Proceedings of the National Academy of Sciences
2010
Association of a NovelACTA1Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family
JAMA Neurology
2015
Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
Movement Disorders
2011
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family
Neurology
2012
Comprehensive Screening of a North American Parkinson’s Disease Cohort for <i>LRRK2</i> Mutation
Neurodegenerative Diseases
2007
Clinical and genetic analysis of spinocerebellar ataxia type 11
The Cerebellum
2008
A consanguineous Turkish family with early‐onset Parkinson's disease and an exon 4 parkin deletion
Movement Disorders
2004
Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2005
Exercise‐induced dystonia as a preceding symptom of familial Parkinson's disease
Movement Disorders
2003
A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD
Neurobiology of Aging
2015
A candidate gene for autoimmune myasthenia gravis
Neurology
2012
Smoking‐responsive juvenile‐onset Parkinsonism
Movement Disorders
2007
Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Unknown Venue
2021
HFE p.H63D polymorphism does not influence ALS phenotype and survival
Neurobiology of Aging
2015
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Neuron
2011
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy
Journal of Clinical Investigation
2020
A 7.5‐Mb duplication at chromosome 11q21‐11q22.3 is associated with a novel spastic ataxia syndrome
Movement Disorders
2014
No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found
Neuroscience Letters
2004
Spinocerebellar ataxia type 11
Handbook of Clinical Neurology
2012
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy
Muscle & Nerve
2017
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
Neurobiology of Aging
2016
Mutation of the Parkin gene in a Persian family: Clinical progression over a 40‐year period
Movement Disorders
2005
Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation
Unknown Venue
2019
P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness
Neuromuscular Disorders
2011

Education

University College London

Ph.D., Molecular Neuroscience

London

University College London

M.Phil, Molecular Genetics

London

B.A., Biology / May, 1999

Baltimore, Maryland, United States of America

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