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Genotype-phenotype analysis
of heritable imaging phenotypes in addiction and depression
– Gusella,
Perlis,
Smoller
In collaboration with members of the
Departments of Psychiatry and Radiology, a project led
by Hans Breiter, MD, PhD is aimed at using functional
MRI and other imaging modalities to define circuitry-based
endophenotypes of use in identifying genes involved
in addiction and major depression.
Nicotine Dependence -
Risk and Recovery Over Generations – Santangelo
The major goal of this project, within
a multi-site Transdisciplinary Tobacco Use Research
Center, is to identify familial, early childhood and
lifetime psychiatric factors that determine trajectories
of progression from smoking initiation to dependence;
lifetime smoking patterns; the natural course of cessation;
and response to treatment, combining a treatment/prevention
imperative, a genetic epidemiologic approach, and a
lifespan developmental perspective.
Genetics of Executive
functions in ADHD and non-ADHD families –
Doyle
This study aims to characterize the
neurocognitive heterogeneity of a large sample of youths
and adults with attention-deficit/hyperactivity disorder
(ADHD) enrolled in family studies at MGH in order to
define the neuropsychological impairments, particularly
in the domain of executive functions.
A Family Study of Autism
at Massachusetts General Hospital – Santangelo
The objective of this project is to
achieve a better understanding of the etiology of autism
by establishing a well-characterized patient/family
sample and database, including comprehensive clinical,
behavioral, neurocognitive and medical data, along with
DNA/RNA and immortalized cell lines on individuals with
autism and their first-degree family members.
Defining the clinical
course of stroke– Rosand
In order to identify novel therapeutic
targets, we and our colleagues in the MGH Stroke Service
maintain a long-standing cohort study of stroke patients
who are evaluated at Mass General. Using clinical, cognitive,
and neuroimaging evaluations as well as molecular and
genetic analyses, we identify predictors of both susceptibility
to and recovery from stroke.
Presymptomatic changes
in Huntington’s disease – MacDonald
Huntington’s disease (HD) involves
the loss of neurons in the striatum and the insidious
loss of fine motor control, behavioral changes and cognitive
decline. With the Huntington’s Study Group, and
other clinical researchers, we are performing standardized
HD CAG genotyping to provide the basis for genotype-phenotype
comparisons in presymptomatic individuals that are aimed
at identifying very early signs of the disease. We also
delineate molecular and biochemical changes in cell
lines established from individuals who carry HD gene
expansions.
Characterization of a
prodromal form of mitral valve prolapse –
Slaugenhaupt
With Dr. Robert Levine and colleagues
in the MGH Echocardiography Laboratory, we aim in this
project to provide clear definition of a pre-clinical
or transitional form of MVP that would aid genetic analyses
and could lead to early intervention and better understanding
of the disorder.
Genotype-phenotype analysis
of precise genetic Juvenile NCL and variant Late-Infantile
NCL models – Cotman,
MacDonald
The neuronal ceroid lipofuscinoses
(NCLs) are neurodegenerative disorders of childhood
that typically lead to blindness, seizures, cognitive
and motor decline, and premature death. We are studying
precise genetic mouse models of JNCL (Batten disease)
and vLINCL to define cellular phenotypes, such as endocytic
and autophagic-lysosomal membrane trafficking defects
and mitochondrial abnormalities, for comparison with
human patient samples.
Phenotype analysis of
potentially heritable symptom dimensions in Obsessive-Compulsive
Disorder (OCD) – Stewart
In collaboration with members of the
Departments of Psychiatry, we are studying the phenotypic
dimensions of pediatric OCD, and extending these across
age groups, to assess heritability and comorbidity,
to aid in genetic studies by providing more homogeneous
subject samples.
Prospective Study of Children
at Risk for Obsessive-Compulsive Disorder –
Pauls,
Stewart
This study will examine environmental,
genetic, neurostructure and neurofunctional factors
impacting on the emergence of OCD in children with first
degree relatives affected by early-onset OCD. It will
also study impacts of early family, behavioral and pharmacologic
intervention on the long-term course of the illness.
Senior investigators on this project include Dr. Michael
Jenike, Dr. Scott Rauch and Dr. Sabine Wilhelm.
Genome-wide association
study of QT interval duration – Newton-Cheh
Genome-wide association study of QT
interval duration - Newton-Cheh
In collaboration with investigators at the Framingham
Heart Study, the Rotterdam Study and the Cardiovascular
Health Study, Dr. Newton-Cheh is identifying genetic
variants in known and novel genes that influence QT
interval duration in the general population and testing
these variants for their influence on sudden cardiac
death and drug-induced arrhythmia.
Genome-wide association
study of blood pressure: GLOBAL BPGEN–
Newton-Cheh
In a multinational collaboration with
investigators from Canada, Estonia, Finland, France,
Germany, Italy, Sweden, the United Kingdom and the United
States, the GLOBAL BPGEN consortium, in which Dr. Newton-Cheh
participates actively, seeks to identify genetic variants
in known and novel genes that influence blood pressure
in the general population.
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