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Research Conference

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DOWN SYNDROME CREED

This event is part of a larger World Down Syndrome Day Celebration. 
Click on the logo below for details on all events.  
 

Wednesday, March 20, 2019 at 1:30 p.m.
The Up of Down:  An Insight Into the World of Down Syndrome
Three-hour Joing Provider Conference with Alexander's Angels, Inc. and NYU Winthrop Hospital 
NYU Winthrop Research and Academic Center Auditorium
101 Mineola Boulevard, Mineola, NY 11501 

Speakers from a broad spectrum of specialties will highlight Down syndrome research progress
Scroll down for details on each speaker 

Click here to register for the conference

CME ACCREDITATION

 NYU Winthrop Hospital is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

AMA CREDIT DESIGNATION

NYU Winthrop Hospital designates this live activity for a maximum of 2.00 AMA PRA Category 1 Credit(s)TMPhysicians should only claim creditcommensurate with the extent of their participation in the activity.

NURSING ACCREDITATION

NYU Winthrop Hospital is an Approved Provider of continuing nursing education by the Northeast Multistate Division, an accredited approver by the AmericanNurses Credentialing Center's Commission on Accreditation. Provider Number:  #NY009-2020 - 10/9/20.  2.00 contact hours will be awarded. 

 
 KEYNOTE SPEAKER

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Dr. Roger Reeves, Ph.D. 
Johns Hopkins University School of Medicine
McKusick-Nathans Institute of Genetic Medicine 
Professor of Physiology
Faculty Director, Transgenic Core Facility
Director, Gene Editing Core of Diabetes Research Center
Director, Transgenic Core Facity of Diabetes Research Center
 
TOPIC
Targeting the SHH Response Deficit to Improve Learning and Memory 
 
Education
Ph.D. University of Maryland, thesis research at the National Cancer Institute
B.S.  Bowling Green State University in Ohio 

Research
Dr Reeves began working on gene expression in Down syndrome early in his career.  Recent work includes human genetic studies to identify genetic modifiers that contribute to a more or less severe presentation of Down syndrome.  His laboratory is studying a possible therapeutic approach to Down syndrome features.  He recently demonstrated the basis for the reduced frequency of solid tumors in people with trisomy 21.  He directs the Down Syndrome Cognition Project, a multi-site effort to employ the Arizona Cognitive Test Battery in conjunction with genetic analysis to identify genetic contributors to variable cognitive ability in DS.  The DSCP network and ACTB provide a structure to recruit volunteers and monitor effectiveness of drugs designed to ameliorate cognitive dysfunction specific to people who have trisomy 21.
 
Dr. Reeves has studied various aspects of Down syndrome for the last 25 years.  He is currently the principal investigator of the Down Syndrome Cognition Project, which researches the combinations of genes in one's genetic background that might lead to the predisposition for the DS effect to be more or less severe and why development works differentt if one has DS than if one does not.
 
Dr. Reeves and his lab use chromosome engineering in ES cells to create defined dosage imbalance in order to localize the genes contributing to these anomalies and to test directly hypotheses concerning Down syndrome "critical regions" on human chromosome 21.    

 

SESSION I

 
Room A 
 
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Dr. William Mobley, M.D., Ph.D. 
University of California San Diego 
Associate Dean of Neurosciences Initiatives
Distinguished Professor of Neurosciences
Florence Rifford Chair for Alzheimer's Disease Research

TOPIC
Rethinking Alzheimer Disease in the Context of Down Syndrome 
(to be presented via teleconference) 
 
Education
Johns Hopkins Health Systems, Residency
Stamford University, Ph.D. in Neuro-&Behavioral Sciences 
Stamford University School of Medicine. M.D. 
 
Research  
Dr. Mobley's research focuses on the neurobiology of neurotrophic factor actions and signaling and on the hypothesis that dysfunction of such signaling mechanisms contribute to neuronal dysfunction in developmental and age-related disorders of the nervous system. His emphasis on the neurobiology of Down syndrome has brought new insights into the disease, including possible treatments. He has also done pioneering work on the neurobiology of Alzheimer's disease (AD) using a mouse model of Down syndrome. These studies were based on the observation that virtually all adults with Down syndrome develop Alzheimer's disease by age 50. This knowledge paved the way for Dr. Mobley's ongoing studies of AD in experimental models.

Having received many awards and distinctions, Dr. Mobley is a member of the Institute of Medicine, National Academy of Sciences. He collaborated with the Dalai Lama to create the Center for Compassion and Altruism Research and Education at Stanford University. He also serves as the expert advisor to the Congressional Down Syndrome Caucus (for which he won the Christian Pueschel Memorial Award in 2007).

 

 

Room B

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Dr. Kelly Sullivan, Ph.D.
University of Colorado, Anchutz Medical Campus
Assistant Professor of Pediatrics
Linda Crnic Institute for Down Syndrome
Department of Pediatrics, Section of Developmental Biology 
 
TOPIC
Deciphering the role of aberrant interferon signaling in Down syndrome 
 
Education
University of Colorado Boulder, Post Doctoral, Cancer Biology
University of North Carolina at Chapel Hill, Ph.D., Biochemistry and Biophysics 
Colorado State University, BS, Biochemistry and Molecular Biology 
  
Research
Individuals with Down syndrome experience a unique disease spectrum relative to typical individuals wherein they are predisposed to certain conditions, such as Alzheimer's Disease and congenital heart defects, but protected from others, including solid cancers.  Despite decades of study, the mechanisms underlying how trisomy 21, the molecular cause of Down syndrome, contributes to the pathophysiology of these various conditions remains poorly understood.  Our group is interested in how an extra copy of chromosome 21 alters signaling at both the cellular and organismal levels, with the ultimate goal of identifying potential nodes for therapeutic intervention.  Our research employs a combination of high thoughput '-omics' studies from a large cohort of individuals with and without trisomy 21 (dubbed the Human Trisome Project), cell culture models, and animal models.  Using complementary '-omics' analyses, including transcriptome, plasma proteomics, metabolomics, and shRNA kinome screens, we have identified the interferon pathway as a major signaling cascade consistently activated by trisomy 21 in diverse human cell types. This activation could explain the hyperimmune phenotype of DS,marked by high prevalence of diverse autoimmune disorders,, protection against solid tumors, increased risk of myeloproliferative disorders and leukemias, and neuroinflammation with cognitive deficits.  We hypotesize that activation of interferon signaling, likely due to increased gene dosage of the four interferon receptors encoded on chromosome 21, contributes to many of the clinical impacts of trisomy 21, and that interferon antagonists could have therapeutic benefits in Down syndrome.  
 

 

Room C

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Dr. Stefan Pinter, Ph.D.
UConn Health
Assistant Professor
Genetics and Genome Sciences Institute 
for Systems Genomics
Assistant Director
Graduate Program in Genetics and Developmental Biology 
 
TOPIC  
Gene Dosage in cellular models of trisomy 21 
 
Education
Mass General Hospital, Harvard Medical School, Postdoctoral 
Princeton University, Ph.D. in Molecular Biology
St. Michael's College, B.S., Major: Biology; Minor: Chemistry 
 
Research
Dr. Pinter Studied helicase function in nuclear and mitochondrial DNA replication and repair.  As postdoc, used genomic tools to map non-coding (nc)RNAs and developed computational approaches to resolving the two parental alleles in sequencing data.  The primary research objective in his lab is to learn how chromosome topology, non-coding ncRNA and chromatin modifiers orchestrate gene expression.
 
Dr. Pinter, a researcher with deep expertise on the XIST silencing technology, previously studying X-linked conditions such as Turner Syndrome and others, now applies his expertise to Down syndrome.  His work aims to advancing understanding of Down syndrome with a systematic segmental deletion project ongoing as well as plans to explore gene and chromosome therapy for Down syndrome.
 

   SESSION II

 

Room A 

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Dr. William Bryson-Brockmann, Ph.D.
NYU Winthrop Hospital 
Chief Developmental-Behavioral Pediatrics 

TOPIC
Common developmental and behavioral issues of individuals with Down syndrome
 
Education and Research 
Dr. Bryson-Brockmann holds a dual Ph.D. in developmental disabilities and clinical psychology.  He trains the NYU Winthrop  Hospital Pediatric residents during their rotation on Developmental-Behavioral Pediatrics, focusing on developmental disabilities, learning disorders, autism and common behavioral problems. Dr. Bryson-Brockmann also treats patients and their families who are experiencing adjustment disorders, anxiety disorders, and ADHD.  Lastly, he participates in the NYU Winthrop Hospital's Down syndrome program Bi-monthly and NICU follow-up clinic.
 
Dr. Bryson-Brockmann will briefly review facts about Down syndrome and share observations and techniques from working with families of individuals with Down syndrome.  He will leave time for questions and discussion. 
 

 

 Room B

Hartnick.jpg 
Dr. Christopher Hartnick, M.D., M.S.
Massachusetts Eye and Ear Infirmary
Harvard Medical School 
Vice Chair of Safety and Quality, and of Clinical Research, Department of Otolaryngology 
Director, Division of Pediatric Otolaryngology
Director, Pediatric Airway, Voice and Swallowing Center
Professor of Otolaryngology
Harvard Medical School 
 
TOPIC
Review the FDA approved study looking at the effect of Hypoglossal Nerve Stimulation in treating children ages 10 to 21 with Down syndrome and significant Obstructive Sleep Apnea (OSA)
(To be presented via teleconference)    
 
Research
Dr. Hartnick led the pilot trial and now a large 50 participant trial in adolescents with Down syndrome to test the efficacy of the hypoglossal stimulation device on sleep apnea with great results: 85% average reduction in sleep apnea index in the first 15 participants six months after implantation and three times better compliance than CPAP mask.  Parents also gave anecdotal reports on improvement of speech.

Dr. Hartnick will address the problem of OSA in these children, role for HGN stimulation, the surgery itself and what that entails, and preliminary outcomes in terms of OSA reduction, speech, and cognition. 
 

 

Room C 

kong.jpg

Dr. Xiao-Fei Kong, M.D., Ph.D. 
Rockefeller University 
St. Giles Laboratory of Human Genetics of Infectious Diseases 
Columbia University 
Gastroenterology Fellow
 
TOPIC
The Immune System in Down Syndrome   
 
Education
Yangzhou University, China, M.D.
Université Pierre et Marie Curie, Paris, Ph.D., Field:  Immunology 
 
Research 
Humans build a comprehensive defensive system against the tiny species of pathogens, such as bacteria, fungal, virus. It had been three decades that interferons were discovered as one of the most mysterious substance reacting swiftly to battle against pathogens. However, too much of interferons are not good. With the past few years, Dr. Kong tried to understand how the interferon system works in the Down Syndrome.  From the genetic basis, individuals with Down Syndrome have three copies of interferon receptors genes, where two copies of such genes are good enough for an appropriate defending system.

With the supervision of Dr. Casanova, Dr.Kong's research at the Rockefeller University demonstrated that the three copies of interferon receptor genes affect the interferon systems through the increased expression of receptors as well as the enhanced interferon responses of immune cells. The overacting interferon system is well known to be related to autoimmune diseases, including lupus, thyroid disorders, type I diabetes mellitus. Those diseases are common in the Down Syndrome.

Dr. Kong's study also found that about 10% of DS individuals have skin candidiasis, a type of fungal infection. He searched for the evidence to support the hypothesis that the susceptibility of DS individuals to fungal infection is due to an impaired T cells immunity from overacting interferon system. He found some clues of aberrant T cells in the DS individuals with more steps to clench the study.          
 

SELF-ADVOCATES

 

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 Kyle Erickson

Kyle graduated in 2008 from North Shore HS where he received a Peer Achievement Award from the National Honor Society.  Kyle is President of Alexander's Angels Youth/Self-Advocate Group and a regular panelist of the Up of Down symposium.  Kyle is presently employed part time at The First National Bank of Long Island.

 
 

Jamie_1.jpg 

 Jamie Bernstein

Jamie, the Secretary of Alexander's Angels Youth/Self-Advocate Group, is a smart, affectionate, and witty 17-year old senior at Commack HS where she passed the Algebra Regents in 2017.  Jamie's joys are taking dance class, karate, swimming and playing with the iPad.    

 
 

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Matthew Hoffman

Received a diploma from Hauppauge HS where he participated on the Varsity basketball and soccer teams and HS track team.  Member of Best Buddies, included since kindergarten.  He works part-time for the L.I. Ducks and, as part of a job training, volunteers at various job sites on Long Island.

 
 

Katherine.jpg Katherine Giunta

Clerical Assistant for the Quality Management Team at Brookhaven National Laboratory in Upton, N.Y.  Katherine takes Hip Hop, Ballet and Lyrical. She also teaches tap and ballet to younger students

 
 

 

Meghan_1.jpgMeghan Shaefer

 Meghan is an 18-year old senior at Commack High School where she is the manager of the Girls Varsity basketball team and a member of Athletes for All. Meghan enjoys a variety of sports through Special Olympics and has won gold medals in bocce, basketball and track & field events. In her spare time, she loves hanging out with her brothers and three dogs, cleaning and organizing, and listening to music.

 
 

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Brittany Schiavone

Brittany Schiavone is the Founder of Brittany's Baskets of Hope, a 501(c)3 corporation, that makes and delivers celebratory baby baskets to families that have given birth to a baby with Down syndrome. Each basket contains items that celebrates the babies' birth and provides support and resources to the family. Since 2016, Brittany has delivered over 700 baskets in 48 states across the country.

 
 

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Richie is a junior at Deer Park High School and is enjoying his junior year! He is a part of Special Olympics Long Island and is always practicing for his up and coming sports! He is involved with basketball, floor hockey, track and this past summer started golf! Richie is a big Islander and Yankee fan as well as Giants fan too! He enjoys going to sporting events and cheering on his favorite teams! Richie loves to travel, specially his recent trip to Disney! Richie has brought so much joy and happiness to not only his family but to everyone he knows! His family feels blessed to have him in their family and to be able to be a part of the Down Syndrome community!