Interdisciplinary Projects

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Atopic Dermatitis

Atopic dermatitis (AD) is the most common chronic skin disorder of childhood. The majority of children with atopic dermatitis develop other atopic diseases including food allergy, allergic rhinitis and asthma. The diagnosis of AD is largely based upon clinical history and physical examination and improvement of the condition can be seen as one ages. The incidence of this disorder is increasing and is estimated to affect over 10% of children worldwide. Currently at Children's Hospital, approximately 12,000 children with AD are followed who present mostly at a very young age. Furthermore, there is a strong genetic as well as environmental component contributing to the pathogenesis of AD. The overall goals of this study include phenotyping participants with AD followed at Children's Hospital, identifying polymorphisms in known and novel genes that may be associated with this condition and investigating environmental and genetic risk factors predisposing to the development of AD. Ultimately, the data collected from this study will allow us to pursue other hypotheses, and to look for gene-environment interactions, in the development of AD.

Investigators

Lynda Schneider, MD (Principal Investigator)

Ingrid A. Holm, MD, MPH

Louis M. Kunkel, PhD

Isaac Kohane, MD, PhD

Additional Information

For more information about this study, please click here.

For more information about Atopic Dermatitis, please click here.

Autism

Autism is a complex developmental disorder manifested by severe social, language and cognitive impairments. Autism is considered to be a part of a spectrum of genetically related disorders. This broader phenotype, the autism spectrum disorders (ASD), includes autism, Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS), and Asperger's Disorder. Heritability estimates in autism exceed 90%, and therefore, genetic linkage studies have been a major focus of research in ASD. In spite of this, a clear genetic cause for autism has been elusive. It has been hypothesized that there are ways to subdivide the autism spectrum disorder group through behavioral and physical phenotyping of the children and their families. By doing this, we may be able to identify more homogeneous groups that will increase our power to detect the associated genetic factors. We believe that we can identify genes and gene pathways that lead to the ASD phenotype and that we might be able to subdivide the patients into diagnostic categories based on their phenotypic features. In addition, we believe that we can subdivide patients into categories based on differences in their gene expression profiles in lymphocytes from peripheral blood. These studies could lead to a biologically based diagnosis of ASD and to an improved understanding of and possible novel interventions in the disease process. A variety of approaches will be used in these studies including transmission disequilibrium testing (TDT), affected sib pair (ASP) analysis, genome-wide scans and novel Bayesian algorithms (which utilize all data both from phenotypic analysis and from expression arrays).

Investigators

Louis M. Kunkel, PhD (Principal Investigator)

Christopher Walsh, MD, PhD (Principal Investigator)

Leonard Rappaport, MD

Ingrid A. Holm, MD, MPH

Isaac Kohane, MD, PHD

Additional Information

For more information about Dr. Kunkel's autism study, please click here.

For more information about Dr. Walsh's autism study, please click here.

For more information about Autism, please click here.

Congenital Myopathies

The congenital myopathies are rare genetic conditions that cause muscle weakness of variable severity. Some affected patients may develop symptoms at birth, while others may develop symptoms in childhood or adulthood. The associated weakness may impact various abilities, including walking, breathing, and feeding. This project is focused on trying to better understand the genes and proteins involved in the congenital myopathies by identifying new candidate genes, screening affected patients, developing phenotype/genotype correlations, and exploring gene and protein expression in affected muscle, all with the goal of eventually developing effective therapies. Expression analysis methods include microarray analysis and functional studies. Our focus includes nemaline myopathy, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore myopathy, and other undefined congenital myopathies.

Investigators

Alan H. Beggs, PhD

Additional Information

For more information about Dr. Beggs' congenital myopathy lab, please click here.

Developmental Dysplasia of the Hip (DDH)

Developmental dysplasia of the hip (DDH) is a common disease of early childhood often called congenital hip dislocation. It results from the disruption of the normal seating of the femoral head in the acetabulum of the hip. Although the incidence is felt to vary from 1 to 4 per 1,000 births, an incidence of up to 13 per 1,000 has been reported. There is a strong genetic component to DDH, with a polygenic component felt to be responsible for the acetabular dysplasia, and a monogenic component felt to be responsible for the lax joint capsule. There is also evidence suggesting a relatively high rate of generalized joint laxity (GJL) in patients with DDH, and defects in collagen have been found in patients with GJL. We hypothesize that the association between DDH and collagen genes is strongest in children with GJL, and if we subgroup patients with DDH based on the presence or absence of GJL we will be able to identify genes associated with DDH in the subgroup with GJL. We also hypothesize that the subgroup of patients with GJL will demonstrate a pattern of inheritance that is close to Mendelian, whereas those without GJL will show a multifactorial inheritance pattern. Transmission disequilibrium testing (TDT) will be used to test the association between DDH and candidate collagen genes in the two subgroups of patients with DDH i.e. those with and those without GJL, and to compare the degree of association of DDH with the candidate genes between the two groups. We will also explore the mode of inheritance of DDH, separately in families of DDH patients with GJL and those without GJL.

Investigators

Ingrid A. Holm, MD, MPH (Principal Investigator)

Louis M. Kunkel, PhD

Young-Jo Kim, MD, PhD

Additional Information

For more information about this study, please click here.

For more information about Hip Dysplasia, please click here.

Interstitial Cystitis

Interstitial cystitis (IC) is a chronic, debilitating clinical syndrome presenting as urinary urgency, frequency, and/or pelvic pain in the absence of any known cause. The etiologic mechanisms underlying IC are poorly understood and although epithelial dysfunction, abnormal mast cell activity, and nerve damage have all been implicated in IC, the importance of each of these factors has not been delineated and is still in dispute.

An important hypothesis obtained directly from our preliminary data is that there is linkage between DNA polymorphic markers and interstitial cystitis (IC) in a select subset of families from an endogamous population of Bulgaria with a high prevalence of IC. By examining the extent of DNA shared on disease chromosomes in this unique cohort, we will be able to infer a set of mutations that will provide tools for the effective diagnosis and treatment of IC. Thererefore, the aims of this study are to (1) Collect DNA samples and medical/family history data from multigenerational families from the United States and Bulgaria; (2) Perform high density linkage analysis in the most informative pedigrees to establish genetic linkage between the IC phenotype and DNA polymorphic markers; and (3) Identify and verify any positional candidate genes by direct sequencing.

Investigators

Louis M. Kunkel PhD (Principal Investigator)

Ingrid A. Holm, MD, MPH

Additional Information

For more information about this study, please click here.
Or, to go to the Urologic Chronic Pelvic Pain Syndrome Website, that focuses on the Interstitial Cystitis Research Study, please click here.

Muscular Dystrophy

The muscular dystrophies are a group of diseases that can be relatively mild, moderate, or severe, and can present early or later in life. The severe cases of muscular dystrophy may lead to death in early infancy while milder cases may cause significant muscle weakness that persists for life. These disorders can be inherited in different ways, including both X-linked and autosomally. As summarized by O'Brien and Kunkel (2001), neuromuscular disease research has significantly progressed since dystrophin was cloned. The functions of dystrophin and its associated protein complex (DAPC) are being elucidated. However, a delay in developing treatment has taken longer than expected. New advances have created the potential for several therapies which will be explored further, in hope that we will be better able to manage muscular dystrophies. Our research is dedicated to this goal.

For more information about Dr. Kunkel's muscular dystrophy lab, click here.

Harvard Neuromuscular Disease Project

This project aims to study gene expression in normal and diseased muscle. The Program Director and Principal Investigators have a long and productive history defining the molecular genetics of human neuromuscular diseases. With their strong backgrounds and notable breakthroughs, they are collaborating on this project in anticipation that the research will result in a better understanding of the pathology of specific neuromuscular diseases and in new approaches to the treatment of the muscular dystrophies and myopathies.

Learn more about the Harvard Neuromuscular Disease Project.

Investigators

Louis M. Kunkel, PhD (Principal Investigator)

Robert H. Brown, Jr. MD, DPhil

Alan H. Beggs, PhD

Isaac Kohane, MD, PhD

Emanuela Gussoni, PhD

Elizabeth C. Engle, MD

 

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