1 sept 2008 · Fragile X syndrome (FXS), caused by a mutation in a specific gene on the three disorders have very different clinical symptoms, they all result
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[PDF] NIH Research Plan on Fragile X Syndrome and Associated - NICHD
1 sept 2008 · Fragile X syndrome (FXS), caused by a mutation in a specific gene on the three disorders have very different clinical symptoms, they all result
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N
ATIONAL INSTITUTES OF HEALTH
R ESEARCH PLAN ON FRAGILE X SYNDROME AND ASSOCIATED DISORDERS SEPTEMBER 2008
U.S.DEPARTMENT OF HEALTH AND HUMAN SERVICES (DHHS)
NATIONAL INSTITUTES OF HEALTH (NIH)
P LAN DEVELOPED BY THE TRANS-NIH FRAGILE X RESEARCH COORDINATING GROUPAND SCIENTIFIC WORKING GROUPS
TABLE OF CONTENTS
EXECUTIVE SUMMARY ........................................................................ .................................. 1 ...... 2 FXSAND ASSOCIATED DISORDERS - OVERVIEW...................................................................... 3
FMR1 and FMRP........................................................................ ............................................ 3 Fragile X Syndrome (FXS).............................................. ........................................................ 4Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)...................................................... 4
Fragile X-associated Primary Ovarian Insufficiency (FXPOI).............................................. 5
NIH FRAGILE X AND ASSOCIATED DISORDERS RESEARCH ACTIVITIES............. 6 T HE NIH FRAGILE X SYNDROME RESEARCH COORDINATING GROUP (FXRCG)........................ 6NIH Fragile X Research Coordinating Group Membership.................................................. 7
H IGHLIGHTS OF ONGOING RESEARCH AT THE NIH ON FXS AND ASSOCIATED DISORDERS......... 7 NIH Collaborative Efforts...............................................National Institute on Aging (NIA)........................................................................
................... 9 Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)....................................................... ........................................ 9 National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)..................... 10National Institute of Mental Health (NIMH)........................................................................
10National Institute of Neurological Disorders and Stroke (NINDS)...................................... 11
RESEARCH PLAN ON FRAGILE X SYNDROME AND
ASSOCIATED DISORDERS........................................................................ ............................ 11 DEVELOPMENT OF THE RESEARCH PLAN........................................................................
........... 11 Charge to Working Groups........................................................................ ........................... 12 FXSAND ASSOCIATED DISORDERS WORKING GROUPS............................................................. 13
FXS Working Group ........................................................................ ..................................... 13 FXTAS Working Group........................................................................ ................................. 14 FXPOI Working Group........................................................................ ................................. 14RESEARCH AREAS AND OBJECTIVES........................................................................
...... 15FXS SUMMARY OF GOALS AND OBJECTIVES............................................................... 17
FRAGILE X SYNDROME (FXS)........................................................................ ..................... 19 G OAL 1 ʊ ADVANCE UNDERSTANDING OF THE PATHOPHYSIOLOGY OF FXS ........................... 19 G OAL 2 - IMPROVE APPROPRIATE AND TIMELY DIAGNOSIS OF I NDIVIDUALS WITH FXS BY CONDUCTING POPULATION-BASED SCREENING............................. 25 G OAL 3 ʊ VALIDATE AND USE FUNCTIONAL MEASURES OF THE MANIFESTATIONS OF FXS ACROSS THE LIFE SPAN................................................................... 28
G OAL 4 ʊ INITIATE A BROAD-BASED PROGRAM OF RESEARCH ON THE EFFICACY OF TREATMENTS FOR FXS........................................................................
................. 31 G OAL 5 ʊ ADVANCE UNDERSTANDING OF THE RAMIFICATIONS OF FXS FOR FAMILIES.......... 33 G OAL 6 ʊ CREATE A FXS RESEARCH INFRASTRUCTURE AND RESOURCES TO MAXIMIZE RESEARCH EFFICIENCIES AND PROMOTE LARGE-SCALE RESEARCH COLLABORATION............. 35 FXTAS SUMMARY OF GOALS AND OBJECTIVES.......................................................... 38FRAGILE X-ASSOCIATED TREMOR/A
TAXIA SYNDROME (FXTAS)........................ 42
GOAL 1 ʊ DEFINING PATHOGENIC MECHANISMS OF FXTAS................................................... 42
GOAL 2 ʊ DEFINING FXTAS CLINICAL PHENOTYPES.............................................................. 44
G OAL 3 ʊ EPIDEMIOLOGY OF FXTAS AND FMR1 PREMUTATION ALLELES............................ 46 G OAL 4 ʊ EARLY DIAGNOSIS/IDENTIFICATION OF INDIVIDUALS MOST A T RISK OF DEVELOPING FXTAS ........................................................................ ..................... 48 G OAL 5 ʊ SUPPORTIVE AND TARGETED THERAPEUTIC INTERVENTIONS FOR FXTAS.............. 49 GOAL 6 ʊ QUALITY-OF-LIFE ISSUES ASSOCIATED WITH FXTAS............................................. 52
G OAL 7 ʊ BROADER IMPLICATIONS FOR OTHER NEURODEGENERATIVE DISEASES.................. 54 G OAL 8 ʊ ESTABLISHING A GENERAL RESEARCH INFRASTRUCTURE FOR FXTAS................... 56 FXPOI SUMMARY OF GOALS AND OBJECTIVES.......................................................... 60 FRAGILE X-ASSOCIATED PRIMARY OVARIAN INSUFFICIENCY (FXPOI)............ 62 GOAL