Stephen W. Scherer


Contact via Hospital for Sick Children


Key Research Areas
Associated Researchers
Associated Organizations

Recent Research Projects

TRajectories Of healthy life using Public Health and primary care Interventions in Canada: The TROPHIC Trial

2017/18-2020/21 • $6,804,917 • PI,CO,Other
The "Developmental Origins of Health and Disease (DOHaD)" hypothesis suggests that a healthy growth and development in pregnancy and early childhood is critical for optimal health and lifetime wellbeing. Yet, Canada's children are falling behind. Nearly 1 in 3 Canadian children are overweight or...

Pregnancy Complications and Developmental Health: Mechanisms, Diagnostics and Therapeutics.

2015/16-2020/21 • $5,012,008 • PI,Other
Leveraging a mechanistic understanding of pregnancy and birth, the proposed research program’s overarching goal is the development of new diagnostics, therapeutics and care models that reduce the incidence of pregnancy complications, improve the health of mothers and children and decrease the...

Pathways to Better Developmental Health in Autism Spectrum Disorder: Phase III

2015/16-2020/21 • $4,793,184 • PI,Other
The Pathways in Autism Spectrum Disorder (ASD) study aims to describe and ultimately to optimize the processes that predict variations in the developmental health (DH) of children with ASD. In Phases I (2004-2009) and II (2009-2014), we employed a multi-method, multi-informant design across 5...

UCAN CAN-DU: Canada-Netherlands Personalized Medicine Network in Childhood Arthritis and Rheumatic Disease

2016/17-2020/21 • $4,283,557 • PI,CO,Other
Arthritis is a common chronic disabling diseases of childhood. Many children with arthritis will continue to have arthritis as adults. New medications called biologic therapies are now available to treat arthritis. These target key biologic molecules that cause inflammation. Biologic therapies,...

BUilding Knowledge and a foundation for HeALthy lIfe trajectories: BUKHALI Trial.

2016/17-2020/21 • $2,135,483 • PI,CO,Other
The burden of non-communicable diseases in low and middle income countries (LMICs) is significant and increasing due to several risk factors including undernutrition at early age, sedentary behaviour, poor diet, and heredity. South Africa's evolving burden of diseases is particularly challenging...

Genomes to Outcomes in Autism Spectrum Disorders

2015/16-2020/21 • $1,981,355 • PI,Other
Autism is a highly variable condition that affects 1% of the population. The collective term, Autism Spectrum Disorders (ASD), encompasses individuals with core features – impairments in social-communication functioning, repetitive behaviours and restricted interests – that are disabling to a...

A Foundation Grant to Improve Early Detection, Diagnosis, and Treatment of Autism Spectrum Disorder

2015/16-2020/21 • $1,423,482 • PI,Other
Our overarching goal is to detect autism spectrum disorder (ASD) earlier and establish effective interventions that can be implemented in infancy. We will extend our CIHR-supported research to address three main objectives:1) To map developmental pathways to ASD during infancy, hypothesizing...

Integrating genomic technologies in health care: evidence, values and health policy

2015/16-2020/21 • $1,192,279 • PI,Other
Research program: New genomic technologies (GT), such as whole genome/exome sequencing (WG/ES), offer exciting opportunities to advance diagnosis, treatment and prevention by assessing hundreds of disease risks in one test. Health care providers (HCP) are increasingly using WG/ES to target...

Understanding and treating neurological phenotypes in the 15q13.3 microdeletion syndrome

2016/17-2020/21 • $994,578 • PI,CO
Neurodevelopmental and psychiatric disorders (NDDs) are characterized by impairments of personal, social, academic, or occupational functioning. There are no treatments that reverse these impairments, highlighting the need to understand their biological aetiologies. One important discovery is...

Taking the "idiopathic" out of scoliosis: from biology and genetics to non-invasive therapies

2019/20-2020/21 • $893,646 • PI,Other
Idiopathic scoliosis (AIS) is a poorly understood disorder characterized by rotational spine deformity that typically arises during adolescence in otherwise healthy individuals. AIS afflicts 4% of children worldwide and in severe cases (predominantly females) can produce chronic back pain,...

Genetic Insights to the Causes of Cerebral Palsy

2017/18-2020/21 • $600,524 • PI,CO
Cerebral palsy (CP) is the most common cause of physical handicap in children. CP describes a group of diseases that affect the brain in early life. We are now starting to understand that our genetic code plays an important role in causing CP. Genetic testing is not done routinely for all...

Early prediction of developmental outcomes: a prospective study of infants with high-impact genetic risk variants

2019/20-2020/21 • $289,762 • PI,CO
Identifying the genetic cause of Autism Spectrum Disorder (ASD) sufficiently early in life can be beneficial in several ways; e.g., early interventions may improve outcomes and allow a timely start of appropriate educational supports. The problem is that a genetic cause is virtually always...

Targeting Sensory Dysfunctions in Autism Spectrum Disorders

2020/21 • $12,500 • PI,CO
Autism and sensory processing challenges often occurred together, and affected individuals might experience 'hyper or hypo' reactivity to sensory input or unusual interests in sensory aspects of the environment. These sensory differences can affect behavior and learning. Sensory function is...

CIHR STAGE (Strategic Training for Advanced Genetic Epidemiology): An integrated program in statistical & epidemiological training for genetics with a population health impact

2010/11-2018/19 • $1,765,647 • PI,CO
The STAGE (Strategic Training for Advanced Genetic Epidemiology) program of the University of Toronto Dalla Lana School of Public Health with affiliated institutions, in collaboration with National and International partners, offers innovative and integrative graduate and post-doctoral training...

Medical Annotation of the Human Genome Sequence

2013/14-2018/19 • $415,177 • PI
No summary

Medical Annotation of the Human Genome Sequence

2013/14-2018/19 • $276,783 • PI
Rapid progress in nanotechnology and information science is bringing whole genome sequencing into the affordable realm to millions of persons and useful for many purposes in health research. Building from the experiences and infrastructure of the first five years of this GSK-CIHR Pathfinder...

Using deep learning to identify genetic variants in non-coding regions of the genome associated with autism spectrum disorders

2017/18-2018/19 • $140,000 • Scholarship/Fellowship,Other
Autism is a neurodevelopmental disorder characterized by repetitive behaviours and difficulties with social skills and communication, often causing significant hardship both for those affected by autism itself and for those caring for them. It is a severe public health burden, with over 50...

Inherited bone marrow failure syndromes: from genomic discoveries to biology

2012/13-2017/18 • $760,000 • PI,CO
Inherited bone marrow failure syndromes (IBMFSs) comprise over 20 rare genetic diseases; e.g. Fanconi anemia and severe congenital neutropenia. The blood producing organ (bone marrow) in the patients does not work from early childhood, leading to low blood counts. Patients suffer from...

AUTISM SPECTRUM DISORDERS: GENOME to OUTCOMES

2014/15-2016/17 • $2,500,000 • PI,CO
No summary

Novel approaches to the prediction, diagnosis and treatment of cardiac late effects in survivors of childhood cancer

2011/12-2016/17 • $2,182,749 • PI,CO
Cancer therapy can place childhood cancer survivors at increased risk for heart disease which can lead to significant illness or early death. Interventions that occur late in the evolution of treatment-related heart disease are usually ineffective at preventing its progression to death or heart...

Identifying heritable genetic susceptibility to ASD using the combined strategy of genetic linkage and whole genome sequencing

2014/15-2016/17 • $280,000 • PI,Other
Autism Spectrum Disorder (ASD) is a childhood onset, lifelong disorder of brain development, in which impairments in social communication and behaviour impact significantly on the ability to function independently. Many individuals with ASD have other medical, psychiatric and developmental...

The role of TAO2 in brain connectivity and Autism Spectrum Disorders

2013/14-2016/17 • $225,000 • PI,CO
Autism spectrum disorders (ASDs) are neurodevelopmental disorders in which individuals have disrupted social communication and repetitive stereotyped behaviors, which lead to life-long difficulties. Approximately 1 percent of individuals in Asia, North America and in Europe have an ASD, which...

Copy Number Variation and Mental Illness in a Pediatric Community Sample

2016/17 • $75,000 • PI,CO
Attention deficit-hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) are common (5% and 2% respectively), impairing and persistent mental illnesses that start in childhood. These disorders run in families and twin studies show that genetic factors are important. Genetic...

Building the Foundation for Healthy Life Trajectories in South Africa : A Preconception DOHaD Intervention Cohort

2016/17 • $35,000 • PI,CO,Other
The burden of non-communicable diseases in low and middle income countries (LMICs) is significant and increasing due to several risk factors including undernutrition at early age, sedentary behaviour, poor diet, and heredity. South Africa's evolving burden of diseases is particularly challenging...

Elucidating the Role of PTCHD1 in Autism and Intellectual Disability

2011/12-2015/16 • $601,070 • PI,CO
We recently identified PTCHD1 as a gene involved in autism (Noor et al, 2010). However, to date, little is known about this gene, or its encoded protein. We have already learned through comparison with other proteins that it is similar to receptor proteins that recognize a class of signalling...

The Genetic Epidemiology of Autism; Family and Molecular Studies

2013/14-2015/16 • $389,348 • PI,CO
Although there has been remarkable progress in understanding the genetic architecture of autism spectrum disorders (ASDs)in recent years many unanswered questions. We do not know if all the variants have been discovered and with the advent of newer technologies there remains the possibility that...

Interpreting genomic data through the study of methylome in Autism Spectrum Disorder

2015/16 • $75,000 • Scholarship/Fellowship,Other
Autism spectrum disorder (ASD) is a complex disorder. Many factors can lead to this disorder. One of the currently known causes is the mutations in genes related to brain and epigenetic functions. I have shown in my previous work that whole-genome sequencing (WGS) can identify relevant mutations...

CIHR Team in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC): From Genes to Proteins, Cells, Tissues and Patients

2010/11-2014/15 • $2,333,264 • PI,CO
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is present in up to 1/1000 individuals and is the 2nd most frequent cause of sudden death in young individuals. We follow the largest cohort of (219) young individuals identified with ARVC, collaborate with adult cardiac EP colleagues, and...

CIHR Training Grant in Health Law, Ethics and Policy

2010/11-2014/15 • $1,625,000 • PI,CO
With breakthroughs in scientific discovery comes the need for advances in the legal and ethical frameworks necessary to ensure advances are implemented in the health care system without harm. With a 2001 CIHR grant we built a Health Law and Policy Training network at Dalhousie University, the...

CIHR Training Grant in Autism Research

2010/11-2014/15 • $1,625,000 • PI,CO
Autism is a serious and not so rare disorder that affects young children in the first 3 years of life (and 52,000 young Canadians under age 20). It is a lifelong handicap, with no cure yet available. Genetic susceptibility, abnormal patterns of brain growth, and specific neuropsychological...

Structural variation in medical genomics

2010/11-2014/15 • $1,050,560 • PI
Genetic variation forms the basis of evolution and human diversity. In some instances deleterious changes in DNA can occur resulting in disease. The Human Genome Project told us we were 99.9% DNA identical with the majority of changes in our genomes being single letter (nucleotide) differences...

A molecular genetic study of autism and related Phenotypes in extended pedigrees

2011/12-2014/15 • $608,879 • PI,CO
Autism is perhaps the most handicapping disorder of childhood. It is caused largely by genetic factors but few of the many genes that lead to the disorder have been discovered. Most studies investigating the genetic etiology of autism have focused on affected sibpairs or singletons, but these...

Identifying causes of autism spectrum disorder through next-generation sequencing in combination with genetic linkage

2012/13-2014/15 • $280,000 • PI,Other
The principal aim of this proposed research project is to identify susceptibility genes for autism spectrum disorder (ASD). ASD is a relatively common disorder of childhood development that impairs communication and interaction, and thereby impacts significantly on quality of life and the...

Role of NRXN1 in Autism Spectrum Disorder Using Induced Pluripotent Stem Cells

2013/14-2014/15 • $140,000 • Scholarship/Fellowship,Other
Autism spectrum disorder (ASD) is a complex neurodevelopmental and highly variable disorder that is poorly understood at the gene level. Several ASD-susceptibility genes were recently identified using new high-throughput DNA sequencing technologies. The study of the expression and causative role...

The Genetic Epidemiology of Autism; Family and Molecular Studies

2010/11-2013/14 • $545,811 • PI,CO
Autism is a neuropsychiatric disorder characterized by impairments in social-communication and by a preference for repetitive activities. It is one of a group of disorders called the autism spectrum disorders (ASD) and is perhaps the most handicapping disorder of childhood in terms of...

Identification of Loci and Genes for Autosomal Recessive Mental Retardation and Autism in Consanguineous Pakistani Families

2010/11-2013/14 • $542,265 • PI,CO
Mental retardation is believed to occur with a prevalence of approximately 2% within the population. Autosomal recessive forms of non-syndromic mental retardation (where no additional symptoms are presnet and the disease causimg mutation is inherited from both unaffected parents) are believed to...

Medical Annotation of the Human Genome Sequence

2010/11-2013/14 • $117,000 • PI
The human genome encodes the information sufficient to direct the development of a fertilized egg into a complex organism capable of decoding its own DNA instruction book. Variation in DNA forms the basis of human diversity and in some instances deleterious changes can occur resulting in...

Medical Annotation of the Human Genome Sequence

2010/11-2013/14 • $87,750 • PI
The human genome encodes the information sufficient to direct the development of a fertilized egg into a complex organism capable of decoding its own DNA instruction book. Variation in DNA forms the basis of human diversity and in some instances deleterious changes can occur resulting in...

Exploring copy number variation in attention deficit hyperactivity disorder

2010/11-2012/13 • $529,606 • PI,CO
Attention deficit hyperactivity disorder (ADHD) is a common and persistent mental health problem affecting 4% of Canadian children. ADHD causes major problems for affected children, their families and, ultimately, for their communities in the form of increased health care and education costs....

Gene discovery in schizophrenia using copy number variations (CNVs) in high-risk monozygotic (MZ) and dizygotic (DZ) twins

2010/11-2011/12 • $273,889 • PI
Schizophrenia is a common devastating brain disease of unknown causation. What is known is that the disease may run in some families. Also, the risk for the disease in dizygotic (DZ) and monozygotic (MZ) twins when one twin is affected is ~17% and 48% respectively. It supports a role for genetic...

Genome-Wide DNA Methylation Profiling in Autism

2010/11-2011/12 • $247,697 • PI,CO
Autism is a severe neurodevelopmental disorder of childhood. The causes, both genetic and epigenetic are heterogeneous. Recently an increase in autism was reported in offspring of infertile couples following assisted reproductive techniques (ART). Since infertility / ART is known to increase the...

Biologically-based outcome predictors in juvenile idiopathic arthritis

2010/11-2011/12 • $180,046 • PI,CO
Juvenile idiopathic arthritis (JIA) is one of the most common chronic disabling conditions of childhood. (The term ¿idiopathic¿ simply means of unknown cause). In this study we expect to show that the interaction of genes, environment, and lifestyle early in disease can help predict JIA outcomes...

Tools for Discovering Genomics Variants with Next Generation Sequencing Data

2010/11-2011/12 • $158,017 • PI,CO
Next Generation Sequencing (NGS) Technologies are revolutionizing the way biologists acquire and analyze genomic data. Our project will develop a suite of tools designed to discover and analyze information about DNA variation from whole-genome sequencing experiments. Unlike most previous...

Identification of functional mechanisms involved in the formation of rare deletions and duplications associated with autism spectrum disorders

2010/11-2011/12 • $45,000 • Scholarship/Fellowship,Other
Autism spectrum disorder (ASD) is a common pediatric neurodevelopmental condition with a strong genetic basis. Due to its frequency and lifelong disabilities, it represents a major burden for families and society. Over the last two years, it has become clear that a sizable proportion of ASD...

Screening for Copy Number Variants to detect genes involved in the development of Autism Spectrum Disorder

2011/12 • $17,500 • Scholarship/Fellowship,Other
Autism Spectrum Disorder (ASD) refers to a large subset of neurobehavioural conditions that have been shown to have an underlying genetic component. Genetic analysis has thus far identified several genetic risk factors associated with ASD development, but many more remain to be found. The...

The Autism Genome Project

2010/11 • $200,000 • PI
No summary

Molecular basis of lafora bodies (starch formation in the brain) and lafora's progressive myoclonus epilepsy

2010/11 • $167,416 • PI,CO
Epilepsy is the most common neurological disorder and affects 1% of people worldwide. Injuries, stroke, tumors and infections are common causes of epilepsy, but approximately 40% of epilepsies are genetically determined. Lafora disease (LD) is the most severe form of inherited epilepsies. It...

A molecular genetic study of autism and related Phenotypes in extended pedigrees

2010/11 • $107,448 • PI,CO
Autism is perhaps the most handicapping disorder of childhood. It is caused largely by genetic factors but the actual genes that lead to the disorder have not yet been discovered. Most studies investigating the genetic etiology of autism have focused on affected sibpairs, but this design for...

Patents

LAFORA'S DISEASE GENE

A novel gene (EPM2B) that is mutated in humans and dogs with Lafora~s diseas e is described.
Related applications: WO2004CA01449, CA20042534382

BIOMARKERS FOR AUTISM SPECTRUM DISORDERS

Methods of determining the risk of ASD in an individual are provided which comprise identifying the presence of one or more genomic mutations in one or more of the genes, PTCHD1, SHANK3, NFIA, DPP6, DPP10, DYPD, GPR98, PQBP1, ZNF41and FTSJ1.
Related applications: WO2008CA01767, CA20082701202

BIOMARKERS FOR AUTISM SPECTRUM DISORDERS

Methods of determining the risk of ASD or ID in an individual are provided which comprise identifying the presence of one or more specific genomic mutations in, upstream of, or comprising the PTCHD1 gene. Additionally provided are methods of determining the risk of ASD or ID in an individual comprising analyzing genomic mutations in PTCHD1AS1 and/or PTCHD1AS2 and/or PTCHD1AS3.
Related applications: CA20112744424

METHODS AND COMPOSITIONS FOR SCREENING AND TREATING DEVELOPMENTAL DISORDERS

This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.
Related applications: EP20120839712, CA20122851388, WO2012IB02498

METHODS AND COMPOSITIONS FOR SCREENING AND TREATING DEVELOPMENTAL DISORDERS

This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.
Related applications: WO2013US25436, EP20130746934, CA20132863887, EP20130746934

METHOD OF DETERMINING DISEASE CAUSALITY OF GENOME MUTATIONS

A method of identifying a gene or genomic mutation that is linked to causality of a neuropsychiatric disorder is provided. The method comprises identifying exons which exhibit an expression level that is at least within the 75th percentile of exon expression levels within a nucleic acid-containing sample from a mammal having a neuropsychiatric disorder; comparing the sequence of each identified exon to the sequence of a corresponding exon from a healthy control to identify rare or de novo...
Related applications: WO2017CA50421, WO2014CA00753