Finding the Genetic Cause and Therapy for Adhd, Autism and 22q: A Journey Into Precision Medicine That Could Affect Millions Worldwide

Finding the Genetic Cause and Therapy for Adhd, Autism and 22q: A Journey Into Precision Medicine That Could Affect Millions Worldwide

by D.H. Moskowitz

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Overview

Discovery of genetic cause and drug therapy for ADHD, autism and 22q that will allow patients to control their symptoms for these three diseases is described. The discovery is by Hakon Hakonarson, MD, Ph.D. who, in 2015, found the genetic cause for the three diseases. He then conducted a clinical trial to prove that the drug NFC-1 could regulate and modulate the genetic mutation that caused the diseases. This is an example of precision medicine being applied to treat the ADHD, autism and 22q patients. The Neighborhood Drug Company (three couples who are neighbors and friends) was instrumental in the success of the company and the development of the therapy for the three diseases.

Product Details

ISBN-13: 9781483590981
Publisher: BookBaby
Publication date: 01/30/2017
Sold by: Barnes & Noble
Format: NOOK Book
Pages: 264
File size: 13 MB
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About the Author

David H. Moskowitz has practiced law for more than 40 years, taught college for five years and law school for three years, and has been involved in numerous business ventures in real estate construction and development, cosmetics, trucking, manufacturing, etc. for many years. He is the author of Exclusionary Zoning Litigation (1976) and several law-review articles. He graduated from Penn State University (B.S.), Villanova Law School (LL.B), Oxford University (D.Phil.) and spent a post-doctoral year at the National University of Mexico. He lives in Malvern, PA with his wife Marian. He has six children and five grandchildren. He is presently engaged in finishing several real-estate projects and working with Hakon in completing several genetically-based drug therapy projects involving his discoveries.

Table of Contents

List of Exhibits ix

Prologue: Why I Wrote This Book 1

Chapter 1 Precision Medicine 5

1.1 Definition 5

1.2 Proposal for the Precision Medicine Initiative 10

Chapter 2 Chidren's Hospital of Philadelphia (CHOP) 13

Chapter 3 Center for Applied Genomics (CAG) 17

Chapter 4 Attention Deficit Hyperactivity Disorder 22

Chapter 5 Autism Spectrum Disorder (ASD) 31

Chapter 6 22Q11.2 Deletion Syndrome (22Q) 38

6.1 Introduction to 22q 38

6.2 DiGeorge Syndrome 41

6.3 Velocardiofacial Syndrome (VCFS) 43

6.4 Conotruncal Anomaly Face Syndrome (CTAF) 44

6.5 Optiz G/BBB Syndrome 44

6.6 Cayler Cardiofacial Syndrome 44

6.7 Other Symptoms 45

6.8 Cognitive/Learning Problems 45

6.9 Endocrine System 46

6.10 Immunological Issues 47

6.11 Neurological/Brain Conditions 47

6.12 Problems in Infancy 47

6.13 Psychiatric/Psychological Issues 48

6.14 Skeletal/Muscle/Orthopedic/Spine Problems 48

6.15 Speech/Language Issues 48

6.16 Summary 49

6.17 Ten Questions about 22q That Further Research and Precision Medicine May Answer 49

6.18 Looking Forward 51

Chapter 7 Genetics 101 57

7.1 Genotype and Phenotype 59

7.2 Genes 61

7.3 DNA 62

7.4 Cells 66

7.5 Chromosomes 68

7.6 Mutations 69

7.7 Receptors 71

7.8 Gluten 73

7.9 Glutamate 74

7.10 Glutamate Receptors 75

7.11 Metabotropic Glutamate Receptors (mGluRs) 75

Chapter 8 Hakon Hakonarson 83

8.1 Medical School 83

8.2 Medical Residency and CHOP 84

8.3 Back to Iceland 85

8.4 Director of CAG 87

Chapter 9 Cag's Biobank 90

9.1 Obtaining Samples for the Biobank 91

9.2 Medical Records 93

9.3 Sequencing Laboratory 95

9.4 What makes CAG unique? 98

9.5 Use of a Large Biobank 99

9.6 Genotype/Phenotype Visualization 103

Chapter 10 The Discovery Process 110

10.1 Introduction 110

10.2 The Discovery Process 112

10.3 Target Identification 114

10.4 Single Nucleotide Polymorphisms (SNPs) and Copy Number Variations (CNVs) 116

10.5 Target Validation 119

10.6 Microarrays and Biomarkers 120

10.7 Remaining Tasks in the Drug Discovery Process 121

Chapter 11 The Discovery 126

11.1 The Target in the Discovery 126

11.2 Validation of the Target in the Discovery 131

11.3 Lead Identification-Finding a Drug 133

11.4 Summary of the Discovery 138

Chapter 12 Neurofix Therapeutics, INC 144

12.1 NeuroFix 144

12.2 Efforts to Obtain Financing 147

Chapter 13 Philip Harper 149

13.1 Background 149

13.2 Army Career 149

13.3 Business Career 150

13.4 United States Investigation Services, Inc. (USIS) 150

13.5 Hakon and Phil 152

13.6 Improving the neuroFix Business Plan 152

13.7 Financing Opportunities 154

13.8 Phil Invests in neuroFix 155

Chapter 14 Neurofix Option Agreement With Chop 156

14.1 The Option Agreement 156

14.2 Exercising the Option 159

14.3 CHOP Patents 159

Chapter 15 Clinical Trials 167

Chapter 16 Neurofix Contract with Nippon 174

16.1 Nippon Shinyaku Co. Ltd. (Nippon) 174

16.2 Nippon Agreement 175

Chapter 17 The Neurofix Clinical Trial 180

17.1 Background for neuroFix's Proposed Clinical Trial 180

17.2 Existing Treatment for ADHD Patients 185

17.3 Animal Studies 186

17.4 Selection of Patients for the Clinical Trial 190

17.5 Patient Regimen 193

17.6 Patient Reaction to the Drug 195

17.7 Results of the Clinical Trail 196

17.8 Explaining the Results of the Clinical Trial 201

Chapter 18 Neighborhood Drug Company 204

Chapter 19 Tripartite Deal 211

19.1 Negotiations with CHOP 211

19.2 Introduction of Medgenics 213

19.3 Tripartite Deal 216

19.4 NeuroFix and Medgenics Agreement with CHOP 216

19.5 NeuroFix and CHOP Agreement with Medgenics 219

19.6 Medgenics and CHOP Arrangement with Hakon Hakonarson 221

Chapter 20 Medgenics Clinical Trials 228

20.1 ADHD Non-interventional Clinical Trial 228

20.2 ADHD Interventional Clinical Trial 231

20.3 22q Clinical Trial 233

20.4 Expectations 237

20.5 Commercialization of NFC-I 239

20.6 Future Discoveries 240

20.7 Future Studies of Autism 241

Chapter 21 Criticism of Precision Medicine 253

21.1 The Problem with Precision Medicine 253

21.2 The Paradox of Precision Medicine 255

21.3 Precision Medicine: Hope, hype, or both 256

21.4 Response to the Critics of Precision Medicine 258

21.5 My personal experience with precision medicine 266

Chapter 22 Conclusion 281

Epilogue 285

Research Notes 287

A Hakon Hakonarson articles about ADHD (2009 - 201 6) 287

B Hakon Hakonarson articles about ASD (2009 - 201 6) 291

C List of references cited frequently 296

Acknowledgements 299

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