» Annual Update | April 2013

1

Christopher McDougle, MD, PsychiatryDirector and Nancy Lurie Marks Professor in the Field of Autism at Harvard Medical School

Ann Neumeyer, MD, NeurologyMedical Director

Ann Giauque, MSWAdministrative Director

Lurie Center Harvard Faculty

Margaret Bauman, MD, Neurology Mass General Distinguished Scholar at the Lurie Center for Autism

Timothy Buie, MD, Gastroenterolgy

Susan Connors, MD, Internal Medicine

Gillian Erhabor, PhD, Psychology

Nora Friedman, MD, Psychiatry

Charles Henry, MD, Psychiatry

Karen Kuhlthau, PhD, Director of Advocacy and Policy Program

Katherine Martien, MD, Neurodevelopmental Pediatrics

Maria Mody, PhD, Neuroscience

Aeri Moon, MD, Gastroenterology

Lisa Nowinski, PhD, Psychology

Julia O’Rourke, PhD, Clinical Informatics

Laura Politte, MD, Psychiatry

Ronald Thibert, DO, MsPH, Neurology

Timothy Yu, MD, Neurology

Andrew Zimmerman, MD, Neurology

Administrative, Clinical and Research Staff

Suzanne Bloomer, MA, Family Support Clinician

Helana Cohen, Practice Manager

Christine Ferrone, Research Manager

Jessica Helt-Cameron, NP, Neurodevelopmental Pediatrics

Nikki Holness, Grant Administrator

Sara Kleinfelder, Medical Assistant

Jennifer Mullet, RN, Research Manger

Julie O’Brien, LMHC, Family Support Clinician

Sara Golas, Research Coordinator

Karmen Koesterer, Research Coordinator

Carly Moran, Research Coordinator

Emily Palfrey, RN, Clinical Services

Ellen Roth, MSW, LICSW, Family Support Clinician

Knwaljit Singh, Research Fellow

Gretchen Timmel, MEd, Educational Consultant

Aspire Staff

D. Scott McLeod, PhD, Executive Director, Aspire

David Gotthelf, PhD, Program Manger

Alyscia M. Grant, MPA, Practice Manager

Sylvia Lewinstein, MPA, Finance and Operations Manager

Dorothy Lucci, EdM, CAGS, Program Director

Genna Lyons, LMFT, MS, Clinical Assessment Coordinator

Spaulding Rehabilitation Network Staff

Michelle Alexander, PT, Site Manager

Nicole Bahlin Short, PT

Katelyn Bruno, SLP

Kristina Duggan, SLP, AAC Coordinator

KristaRose Fothergill, SLP

Jennifer Francese, SLP

Tina Leonard, OT

Carol Oakes, OT

Ashley Scott, OT

Jen Stornelli, OT, Clinical Supervisor

Kathleen Tehrany, SLP

Stacey Torres, OT

Theresa Tousignant, SLP

Janet Wright, OT

Lurie Center for Autism Faculty Research Collaborators

Martha Herbert, MD, PhD, Neurology Director, Transcend Research Laboratory, MGH

Dara Manoach, PhD, Psychiatry Investigator, Harvard-MGH Martinos Center for Biomedical Imaging

James Gusella, PhD, Director, Center for Human Genetic Research, MGH, and Bullard Professor of Neurogenetics in the Department of Genetics, Harvard Medical School

Tal Kenet, PhD, Neurology Investigator, Harvard-MGH Martinos Center for Biomedical Imaging

Jacob Hooker, PhD, PET Chemistry Investigator, Harvard-MGH Martinos Center for Biomedical Imaging

William Carlezon, PhD, Psychiatry and Neuroscience, Director, Behavioral Genetics Laboratory, McLean Hospital

Lurie Center for Autism Staff

1

Mission To advance knowledge of autism spectrum and related disorders and to rapidly translate discovery into exceptional clinical care over a lifetime

Our Goals » Set the worldwide standard for excellence in clinical care of individuals over a lifetime

» Lead initiatives to advocate for policies supportive of individuals and their families

» Educate clinicians, researchers, and others to advance knowledge and understanding

» Rapidly translate scientific discovery from research to new clinical treatments

Our first year directing the Lurie Center for Autism is now complete. I have never been more energized or happy to be part of an organization as support-ive and motivated to help patients and families as Massachusetts General Hos-pital (MGH) and MassGeneral Hospital for Children (MGHfC).

I’d like to summarize some of the accomplishments across our mission of clinical care, research, education and policy. As you will see in this report, we have experienced significant growth in the number of children, adolescents and particularly adults with autism spectrum disorders (ASD) that we serve. In parallel, on the Spaulding Rehabilitation side of our clinic, we are providing more occu-pational, physical, and speech and language therapy — including an expanding augmentative and alternative communication (AAC) program — than ever before. We con-tinue to provide multidisciplinary care involving child and adult neurology, developmental pediatrics and pediatric gastroenterology, internal medicine, child and adult psychiatry, neuropsy-chology and school consultation.

Our research program has taken shape. We have competed successfully for fed-eral funding and, with this, several clin-ical trials are underway. One example is the Autism Centers of Excellence (ACE) award from the National Institutes of Health, which is a multi-site treatment network that will investigate the neuro-hormone oxytocin, given intranasally, for social and communication impair-ment in children and adolescents with autism. We have also transferred each of our clinical medication treatment trial grants from Indiana University focused on improving motor hyperactivity/ inattention and anxiety in children and adolescents with ASD.

While working to develop more effective treatments for ASD, our team is simultaneously focused on identifying underlying causes. We have established collaborations with many research groups in the Boston area, including those at the Athinoula A. Martinos Cen-ter for Biomedical Imaging, the Center for Human Genetics Research at MGH and the Behavioral Genetics Laborato-ry at McLean Hospital. These research projects are focused on potential causes of autism in different subgroups, includ-ing individuals with an extensive family

history of autoimmune disorders. Brain imaging studies are also focusing on individuals with autism ages seven to 35 years old who are minimally verbal to non-verbal with the goal of evaluat-ing the speech network in their brain compared to typical control subjects. A third project area relates to personalized medicine for autism utilizing induced pluripotent stem cells and other genetic techniques. Summaries of each of these studies are included in this report.

In December, we received an extraordi-nary philanthropic gift from Robert and Donna Landreth of Midland, Texas, to initiate research in neuroinflammation. Private philanthropy, such as this, will allow us to take a new exploratory path which, while not certain, has the po-tential for a major breakthrough. At this early stage, the study would not have attracted large-scale federal funding because it is considered too risky due to its innovative and ambitious nature.

In the area of education, many more students and trainees from medical schools, psychiatry, neurology and pediatric residency programs, and neuropsychology, speech and language and occupational therapy programs are

Hello to each of you,

from the director

2 3

rotating with us in the clinic. Medical students from across the country are in-quiring about special elective rotations at the Lurie Center. We are confident in our ability to contribute to training the next generation of clinical providers and researchers for future careers in ASD.

Our programs in public policy at MGH and Brandeis University are working on collaborative projects and goals. One topic that is receiving increasing atten-tion is that of the individual with autism transitioning from school at age 22 years into a future filled with multiple areas of uncertainty. Our family resource specialists and many of you serving in volunteer roles are helping us to better understand the challenges associated with those in this age group so that we can implement change and set the stan-dard for the rest of the country to follow. Space has been a limiting factor in our desire to grow. However a solution is in sight, and in January 2014, we will expand into adjacent space at 1 Maguire Road in Lexington. This will more than double our space and allow us to do much more. In addition, our Aspire pro-gram will establish a greater presence at the clinic, providing children and young

adults more opportunities to develop social and life skills that will prepare them for the future. Another limiting factor to growth has been finances. As you may or may not know, providing clinical care for persons with ASD is a money-losing proposition. This shouldn’t be the case but patients with ASD take more time to care for, due to their complex needs. Each time we see a patient, we lose money.

In the months ahead we will be an-nouncing a special challenge campaign to encourage philanthropic investments in our clinical, research, education and policy initiatives. Each investment will leverage additional support for core clinical operations, ensuring patients and their families have access to quality comprehensive care over a lifetime.

We will need your help — both financial and in-kind — to continue to make the strides we have made over the past year. Stay tuned for more details.

If you have an interest in making a gift to support our mission or if you have other ideas, I want you to contact me directly at cmcdougle@partners.org.

You may also reach me via this email address for any other reason.

We have gained tremendous momen-tum over the past year. We promise to work even harder this next year to help individuals with ASD and their families. Thank you very much for your ongoing support.

Sincerely,

Christopher J. McDougle, MDDirector, Lurie Center for Autism

2 3

Right: Celebrating the establishment of the Nancy Lurie Marks Professorship in the Field of Autism at Harvard

Medical School are Peter L. Slavin, MD, president of MGH; Jerrold Rosenbaum, MD, chief, MGH Department of

Psychiatry; Dr. McDougle; Clarence Schutt, PhD, director and chief scientific officer of the Nancy Lurie Marks Family

Foundation; Nancy Lurie Marks and Jeffrey Flier, MD, dean, Harvard Medical School

Below: Dr. McDougle works with a patient’s mother.

4 5

clinical update

The Lurie Center for Autism is unique in its multi-

disciplinary approach that integrates the following

clinical services at the Lexington site: neurology,

developmental pediatrics, gastroenterology,

psychiatry, neuropsychology, occupational

therapy, physical therapy, speech pathology,

educational services, and family support services.

Through daily interaction of providers across

disciplines and monthly multidisciplinary case

conferences, Lurie Center providers are able to

offer comprehensive, integrated care rarely

found elsewhere.

Our visit to the Lurie Center was a beacon of hope. After years of searching, I felt that perhaps these doctors at the Lurie Center could provide the evaluation and care for my son’s many unexplained and challenging behaviors that have baffled so many. Having a place like the Lurie Center is hopeful for families who have been struggling for years.

“

“

-A grateful mother

4 5

Over the past year, the Lurie Center has continued to grow both in the number of patients seen and quality of services delivered. We are pleased to have increased the depth of our clinical staff — our multidisciplinary team now includes the ten disciplines of neurology, developmental pediatrics, psychiatry, gastroenterology, neuropsychology, adult autism specialist/internist, educa-tional consultation, and speech, physical and occupational therapies.

In 2012, we recorded an unprecedented 6,071 medical visits. Since the establish-ment of the Lurie Center in 2009 we have seen a 145 percent increase in patient visits. Expediting diagnostic visits for young children has been a high priority, and we recruited a new psychologist, Gillian Erhabor, PhD, during 2012 to help us see families for initial assessments in a timely manner.

Additionally, we have worked to improve access to care for adults with autism spectrum disorders. This year, there have been 1,235 adult patient visits, a

300 percent increase over the past three years, and adults are seen in nearly every discipline now. Susan Connors, MD, is leading our efforts to work with com-munity-based primary care practices to ensure that our adult patients can access appropriate care close to home.

Treatments with speech, physical and occupational therapists have also expanded. There has been a 54 percent increase in visits for speech-language services since 2009 and our alternative and augmentative communication (AAC) visits comprised 42 percent of all speech visits in 2012, more than double the previous year.

Patients come from near and far to access the unique services of the Lurie Center. We have seen patients from every county in Massachusetts as well as from 23 states and many different countries this past year. I am grateful to our dedicated clinicians and administrative staff at the Lurie Center who welcome and care for all these individuals and their families.

I also want to thank the many friends and families who have volunteered time and resources to ensure that we provide our patients with compassionate, high qual-ity care and families with the support they need at every stage of their journey with autism. You inspire our continued commitment to serve the patients and families of Massachusetts with the best possible care.

Sincerely,

Ann Neumeyer, MDMedical Director

Dear friends,

Ann Neumeyer, MD

-A grateful mother

6 7

clinical update

Since improving communication skills is key to helping many patients with autism spectrum disorders achieve their full potential, the Lurie Center provides speech-language services through its on-site collaboration with the Spaulding Rehabilitation Network. The Spaulding Outpatient Center at Lexington special-izes in services for children and adults with autism spectrum disorders, includ-ing speech-language, occupational, and physical therapy.

Over the past year, the Spaulding team at Lurie has focused on expanding its Communication and Technology Lab services. The lab was created to provide comprehensive evaluations and treat-ment interventions for children and young adults needing alternative or augmentative means of communication through either low, mid or high tech communication devices. By combining ongoing evaluation, treatment, training, and support for the individual and fam-ily, the Spaulding team aims to provide those with communication challenges a bridge to interact with life in the richest way possible.

Over the past year, there have been multiple new initiatives with speech- language services:

» The Communication and Technol-ogy Lab received a grant from the Winning Home Foundation to es-tablish a lending library. The library allows patients and families to test an AAC device for a period of two to six weeks to determine the best device to purchase or for situations in which insurance will not cover the cost of a trial.

» A grant from the Flutie Foundation was awarded to provide services to adults with autism in the community. Through this grant, the Spaulding team has begun a project at three local day programs which involves introducing a communi-cation system with adults, training staff on how to use the system, and providing treatment visits and follow-ups.

» The Communication and Technol-ogy Lab established a process for intake and evaluation for patients

requiring an AAC evaluation. A three-part evaluation allows clinicians to test several different AAC devices and systems before making a formal recommendation. Five follow-up treatment visits are provided once a device evaluation has begun in order to educate fami-lies and staff and assist with imple-mentation of the new system across settings. Staff and family members are encouraged to attend any and all evaluation/treatment sessions.

Update on Speech-Language Clinical Services

Autism is intriguing. Many of these individuals can communicate in ways other than talking with their parents. They can even operate a complex stereo system, but they do not speak to us. The medical community knows little about why language and speech are disrupted in this population.

Speech visits have increased by 54 percent since 2009. In 2012, alternative and augmentative communication visits comprised 42 percent of speech visits, a 113 percent increase from 2011.

“

“

-Dr. Christopher McDougle

A boy uses an AAC device at the Lurie Center.

Clinical Revenue Sources

Fiscal Year 2011

Philanthropy

48%

Clinical Patient Services

39%

Philanthropy

37%

Clinical Patient Services

46%

MGH

16%

MGH

12%

Educational Consulting 1%

Provider Contracts <1%

Fiscal Year 2012

Educational Consulting 1%

Provider Contracts <1%

As of 2012, more than 37 percent of the Lurie Center’s clinical operating budget was underwritten by philanthropic support to allow the center to maintain its commitment to providing clinical care throughout patients’ entire lives.

6 7

-Dr. Christopher McDougle

The Lurie Center is one of the very few places in the country that takes care of adults, even though there are more adults with autism than children with autism.

“

“-Dr. Ann Neumeyer

Dr. Neumeyer examines a patient with autism.

9

education

The Lurie Center for Autism is committed to

providing comprehensive education and teaching

to physicians, clinicians, and medical and

graduate students specializing in autism

spectrum and other developmental disabilities.

Based on the increased prevalence of autism, we need more people to provide care. If we’re going to educate the community of providers across healthcare disciplines, we need to start with the students.

“

“

-Dr. Christopher McDougle

9

During the past year, more than 50 interns, residents, and medical students visited the Lurie Center from many institutions including MGH/McLean Hospital psychiatry resi-dency program, MGHfC pediatric residency program, Harvard Medical School, as well as Tufts University and Yale Schools of Medicine. Dr. McDougle states, “Based on the increased prevalence of autism, we need more people to provide care. If we’re going to educate the community of providers across healthcare disciplines, we need to start with the students.” Additionally, fellows in the Child and Adolescent Psychiatry MGH/McLean Program, Cambridge Hospital and MGH Neurology completed rotations during the past year.

Recognizing that finding primary care providers who can expertly serve the medical needs of patients with autism spectrum disorders can be challenging, the Lurie Center

also focused on educating primary care clinicians in eastern Massachusetts. Lurie Center physicians have conducted more than 20 presentations for physician practices and other medi-cal groups throughout Massachusetts over the past year.

In collaboration with Friends of Lurie (FOL), a parent volun-teer organization, the Lurie Center continues its commitment to supporting parents, families, and caregivers through education. The FOL Roger A. Bauman Parent Lecture Seriesoffers monthly educational events on a variety of topics related to autism spectrum disorders for families in the Boston community. Additionally, the center has developed evidence-based information on a variety of topics — such as types of complementary and alternative treatment — for its website, www.luriecenter.org.

Rebecca Grant, PhD, was recruited for the Lurie Center Postdoctoral Fellowship in Neurodevelopmen-tal Disabilities and Assessment through a partnership with McLean Hospital. This one-year fellowship focuses on neuropsychological as-sessment of children, adolescents, and adults with autism spectrum disorders and other neurodevelop-mental disabilities, and it accepts candidates with a PhD/PsyD in clinical psychology.

Rebecca Grant, PhDPostdoctoral Fellow in Neurodevelopmental Disabilities and Assessment

Agnies van Eeghen, MD, was the first Lurie Center physician research fellow to be recruited for the Lexington based clinic. Dr. van Eeghen is working on research related to pharmacological treatment for interfering behavioral symp-toms in patients with tuberous sclerosis and Williams syn-drome. She also works in the neurofibromatosis clinic.

Agnies van Eeghen, MDLurie Center Research Fellow

Susanna Mierau, MD, PhD, a Nancy Lurie Marks Postdoc-toral Fellow through Harvard Medical School, was based in the laboratory of Michela Fagiolini of Children’s Hospital and provided clinical care at the Lurie Center. Dr. Mierau is investigating the synaptic basis of cortical function decline using the MeCP-2 deficient mouse model.

Susanna Mierau, MD, PhDNancy Lurie Marks Postdoctoral Fellow

Lurie Center Education Initiatives in 2012

-Dr. Christopher McDougle

Lurie Center Fellows

11

This is an excellent opportunity to examine and improve policies that influence the lives of children and adults with ASD and their families.

“ “

-Dr. Karen Kuhlthau

policy

At the Lurie Center for Autism, we are leading

initiatives to advocate for policies supportive of

individuals and their families.

11

The analysis, development, and advo-cacy of policies to address critical issues in autism facing individuals with ASD, as well as their families, government, schools, and community organizations, is one of the four key components of the Lurie Center for Autism mission. During the past year, Karen Kuhlthau, PhD, associate professor of Pediatrics at Harvard Medical School and the Center for Child and Adolescent Health Research and Policy at the MGHfC has assumed leadership of the Lurie Center Policy and Advocacy Program.

Dr. Kuhlthau received her doctorate degree from the University of Michigan in sociology where she focused on demography and health. Dr. Kuhlthau has a long and successful history of research and policy analysis related to understanding the implications of child-hood chronic illness for child develop-ment and behavior, and for families. Her work regarding families has document-ed the substantial effects of long-term childhood illness on parents’ mental health and on parents’ ability to remain productive in the workforce. This work forms the basis for family support pro-grams to aid households in caring for children with autism and similar condi-tions. Dr. Kuhlthau has also pioneered the development of measures of quality of life in autism and other conditions, such as children’s brain tumors. This work offers much opportunity to

understand the impact of illness on parents and daily life experiences.

Dr. Kuhlthau expressed her excitement about her new role as director of the Lurie Center’s policy initiatives, stat-ing, “This is an excellent opportunity to examine and improve policies that in-fluence the lives of children and adults with ASD and their families.”

James Perrin, MD, FAAP, professor of Pediatrics at Harvard Medical School and associate chair, MGHfC, stepped down from his leadership of the Lurie Policy and Advocacy Program because of his new responsibilities as presi-dent-elect of the American Academy of Pediatrics (AAP), the preeminent child health organization. Dr. Perrin will continue his work to improve the care and lives of children with various chronic health conditions, including autism spectrum disorders. He has expanded his work in child health policy through the AAP, with an emphasis on making the Affordable Care Act work for children, families, and pediatricians; on transforming pediatric practice to ex-pand capacity to care for children with chronic health conditions; and on work to address both prevention and better treatments to enhance the lives of chil-dren with chronic conditions and their families. He will continue to work with Dr. Kuhlthau and the team in autism policy efforts.

Karen Kuhlthau, PhD, New Leader of the Lurie Policy and Advocacy Program

Karen Kuhlthau, PhD, director of the Lurie Center Policy and Advocacy Program

James Perrin, MD, FAAP, associate chair, MGHfC

-Dr. Karen Kuhlthau

8 13

research

At the Lurie Center for Autism, the goal is to partner with individuals and families to incorporate groundbreaking research into the heart of clinical practice. The integration of clinical care and clinical research has expanded over the past two years with the initiation of clinical treatment protocols. There are several additional initiatives related to translational research that were launched over the past year. These are described in the follow-ing pages.

Basic science connects with clinical care at MGH as it does nowhere else, which makes MGH the ideal place to move discoveries from the lab into the clinical arena as quickly as possible. This is where genetics becomes genetic medicine.

“

“

-Clarence Schutt, PhD Director and Chief Scientific Officer

Nancy Lurie Marks Family Foundation

8 13

Impaired communication is a core feature of autism. Verbal and communi-cative deficits are highly disabling, resulting in poor self-expression, frustra-tion, anxiety, aggression, self-injury and social and/or vocational withdrawal. Even with years of intervention, about 30 percent of children with autism re-main minimally verbal. Little is known about the neural bases of communi-cation deficits in this group since most studies of autism have focused on high-functioning individuals who are better able to comply with research. In collaboration with the Martinos Center, the Lurie Center, under the di-rection of Dr. McDougle is launching a comprehensive investigation of patients with autism who are minimally verbal to understand the basis of communi-cation deficits and to develop effective treatment.

Over the past decade, the Martinos Center has been a pioneer in the devel-opment of new neuroimaging tech-niques that make it possible to map the functional and structural connectivity of the human brain without requiring active participation in a task. Because of the lack of task demands, studies of the brain during the ‘resting state’ reduce requirements of subject compliance and training, making it feasible to study the neural basis of speech/language deficits in minimally verbal individuals with autism.

The primary goals of this research are to:

» Characterize abnormalities in the brain networks underlying speech in minimally verbal individuals with autism

» Characterize network changes that result from therapeutic intervention

» Identify neural markers that predict successful therapeutic outcomes

This project is a collaboration between experts across multiple disciplines and institutions. Clinical characteri-

zation and therapeutic intervention will be completed at the Lurie Center by Spaulding’s Katelyn Bruno, SLP, along with Mass General’s Maria Mody, PhD. Magnetoencephalography will be carried out by Tal Kenet, PhD, Matti Hamalainen, PhD, and Dara Manoach, PhD. Frank Guenther, PhD, at the Martinos Center at Mass General, will lead the MRI component of the project. Additional aspects of the project related to study design, theoretical interpreta-tion, stimulus generation, and MRI data analysis will be performed at Dr. Guenther’s Speech Laboratory at Boston University.

An Investigation of Minimally Verbal Individuals with Autism

A young patient uses an AAC device at the Lurie Center.

research

Neuroinflammation and AutismA body of research points toward a link between autism and autoimmune disorders. This research includes inde-pendent studies by Dr. McDougle and Andrew Zimmerman, MD, which found a higher rate of autoimmune disorders in relatives of persons with autism com-pared to a control group. Autoimmune diseases such as rheumatoid arthritis, lupus and type 1 diabetes develop when antibodies that normally fight infectious organisms instead attack the body itself.

Children and adults with autism also show signs of chronic immune system activation and inflammation that affect the brain. Many researchers think that this chronic inflammation starts before birth and may be triggered by a moth-er’s infection, allergies, or autoimmune responses. The Lurie Center for Autism is developing parallel preclinical and clinical studies to investigate maternal inflammation as a pathogenic mecha-nism underlying a subtype of autism.

On the preclinical side, researchers have developed three different models of maternal inflammation in pregnant mice. One model is based on bacterial

infection; a second model is based on viral infection; and the third model is based on an environmental toxin. The newly born mice are then characterized behaviorally with regard to the three core symptom domains of autism: social behavior, communication (vocalization utilizing a sensor designed to capture the vocalizations of bats), and repetitive behavior. Thus far, it appears that the viral-induced model of maternal in-flammation produces the most accurate model of autism in the mice. Next steps are to begin examining the brains of the mice with “autism” via electrophys-iology, neurochemistry, neuroimaging and genetics. Additional plans include administering immune-modulating drugs in an effort to prevent and reverse the “symptoms of autism.”

In parallel, researchers are developing projects to better characterize patients with autism, as well as their family members, with respect to autoimmune disorders. A detailed questionnaire that will be used to screen first- and second-degree family members of persons with autism, ages 18 years and older, for up to 100 different

autoimmune disorders, has been developed. This study is based upon encouraging pilot data collected and published previously in indepen-dent studies by Drs. Zimmerman and McDougle.

New tools for examining brain anatomy and function will also be employed in these studies. In collaboration with investigators at the Martinos Center, PET/MRI scans will be done on adults with autism, utilizing a new ligand that binds to activated microglia — a marker of active neuroinflammation — in the brain. This will be the first study in the world to use this ligand with combined PET/MRI to study autism. The “autistic” mice will also receive PET scans using this same ligand. Plans are also being developed to treat persons with autism with immune-modulating medications in an effort to improve their social and communication limitations.

Our goal is to identify a meaningful subtype of autism, defined by one or more biomarkers of pathophysiology, that is predictive of improvement with a safe, targeted treatment. We believe that Boston is one of the only places in the world that has the talent and resources to make this a reality at this point in time.

“

“

-Dr. Christopher McDougleDr. McDougle leads a team of researchers.

research

14 15

14 15

The Lurie Center is developing a partnership with investigators at Mass General’s Center for Human Genetic Research, under the direction of James Gusella, PhD, to use human genetic information to enhance the clinical care of people with autism. The heterogeneity of autism spectrum disorders suggests that optimal treat-ment will need to be personalized. The overarching goal of the Personalized Medicine in Autism Research Program (PMARG) is to define the underlying biology leading to the development of different subtypes of autism through re-search studies in human patient-derived and mouse model-derived nerve cells (neurons). The studies will take advan-tage of cutting-edge genetic techniques in conjunction with multi-level neuro-scientific analysis.

Engagement of the Lurie Center’s patients in translational research is an integral component of the project. In-vestigations will focus on genetic causes of autism that perturb the function of genes, based on recent data suggesting that dysregulation of neuronal gene expression is a central causative mecha-nism in autism. In addition to providing new insights into the potential causes

of autism and possible treatments, the PMARG will establish an infrastructure for translational research in collabora-tion with the Lurie Center for Autism, as well as valuable data and reagent repos-itories, both of which will significantly facilitate future research.

The aims of the PMARG are to develop a panel of induced pluripotent stem cells transformed into nerve cells bearing genetic variants of interest directly from patients with autism. These neurons from individual patients simply require obtaining a skin cell from a patient. From this, the neuroscientists can con-

vert the skin cell to that patient’s indi-vidual nerve cell. In parallel with study-ing how these individual neurons from patients look, function and connect to other neurons, neurons in the brains of novel mouse models of autism will be analyzed. The ultimate goal of this research is to identify new compounds that more specifically target the biologic abnormalities in the brain, and possibly other organs, in those with autism.

Personalized Medicine in Autism

Ronald Thibert, MD, Lurie Center neurologist, works with a young patient.

Research Revenue Sources for Fiscal Year 2012

All other <1%Industry 1%

Non-profit 9%

Philanthropy

61%

NIH

17%

Federal: Other 12%

17

philanthropic partnerships

Philanthropy is an important component of the

Lurie Center initiatives since, according to a

recent Autism Speaks report, ASD receives less than

five percent of the research funding of many less

prevalent childhood diseases. In addition,

current healthcare reimbursement models

penalize programs such as the Lurie Center

that are labor-intensive for physicians and

psychologists and require regular, lifelong

follow-up care from the providers.

The family is committed to research and to translating discoveries into treatments for autism and related disorders. The foundation’s decision to partner with Mass General to create the Lurie Center for Autism was based on a shared commitment to sustaining and advancing autism clinical and research programs. Our gift is a building block for future autism philanthropy at the hospital.

“

“

-Dick DenningTrustee and Chief Operating Officer

Nancy Lurie Marks Family Foundation

17

Ever since their grandson Luke “Tug” Bailey, 11, was diagnosed with autism, Robert E. (Bob) and Donna Landreth of Midland, Texas, have sought help and answers. Over the years, the couple have become dedicated advocates for autism research and awareness. As part of this commitment, they recently donated $5 million to establish the Robert E. and Donna Landreth Fund for the Study of Neuroinflammation in Autism at Mass General’s Lurie Center for Autism. The funds will support the work of Dr. McDougle who is investigating how inflammation within the brain may be related to the cause of autism in some people who have the disorder. “We knew a solid source of funding was needed so that Dr. McDougle and his team could pursue this research without interrup-tion over a five-year period. We thought this was a way for us to give back and to do some good,” Bob Landreth said.

The Lurie Center also received a $5 million challenge grant from Nancy Lurie Marks and the Nancy Lurie Marks Family Foundation, which helped estab-lish the center in 2009 through an initial $29 million donation. This most recent gift will provide an additional two years of funding support for the Lurie Center’s clinical operations.

Lurie Center Receives $10 Million in Gifts

Dedicated advocates: From left, Bob and Donna Landreth, Dr. McDougle and Dr. Schutt.

The Lurie Center for Autism has been one of the beneficiaries of the annual Full Court Charity Challenge. Created and organized by Bob Forlenza, a Lurie Center Leadership Council member, the tournament has raised more than $2 million since its inception 14 years ago to support organizations serving children and adults with autism. At the Lurie Center, the funds aid the clinic’s patient and family support initiatives.

Friends of Lurie (FOL) is an organiza-tion that includes individuals with ASD, as well as parents, civic leaders, professionals, and other volunteers committed to supporting children, adolescents and adults affected by ASD through education, outreach and community-based fundraising and social events. The annual holiday party for Lurie Center patients and families, sponsored by FOL, is always a highlight of the year.

Full Court Charity Challenge Tops $2 Million

FOL Supports Lurie Center Through Events

FCCC Organizer, Bob Forlenza with son, Chris. Staff volunteer at the annual FOL holiday party.

To learn how you can support the Lurie Center for Autism, please contact:

Anne MacLeanMassachusetts General Hospital Development Office165 Cambridge Street, Suite 600Boston, MA 02115

Phone: 617-643-0463Email: acmaclean@partners.org

To make a gift online visit: www.luriecenter.org

» Lurie Center for Autism | 1 Maguire Road | Lexington, MA | 02421 » 781-860-1700 | www.luriecenter.org

William “Billy” Megargel is a 23-year-old artist who uses an arsenal of tools — artists’ brushes, ball tip whisks, paint rollers, rubber colanders, bamboo salad utensils and bubble wrap — to create expressive modern paintings that command attention with their physical and emotional power.

Billy is also an individual with autism who has lived the past several years with acute episodic pain. His medical realities coincide with his diagnosis of autism, one of many people on the autism spectrum who faces medical challenges as complex as his social challenges.

The evolution of Billy as an artist inspired his mother, Eve Megargel, to establish the Voice Colors Communication Resource Model. The VCCRM educational mission is to provide people on the autism spectrum opportunities to learn, develop, and cultivate independent self expression grounded in social relationships.

With the planned expansion of the Lurie Center in January 2014, we would like to display the work of other individuals with autism spectrum disorders throughout our clinic. Please call us at 781.860.1783 or email us at luriecenter@partners.org if you would like to donate art to be displayed.

Billy enjoys listening to music as he paints and finds music and the works of other artists as sources of inspiration.

About the ArtistCover painting by Billy Megargel