PUBLICATIONS

The DNA of EDS and Long COVID19 syndromes book by Dr. Wilson describes the clinical and DNA findings of 1899 EDS patients evaluated between 2011 and 2020. Analysis of this data after entry into an Excel database required another 3 years, clinical findings correlated with prior EDS criteria and literature reports, their patterns detailed and related to underlying disease mechanisms. Changes in over 300 genes altered in 568 EDS patients with positive DNA testing results were also matched with EDS mechanisms via their observation in patients (ClinVar) or normal people (Gnomad) and their prior disease associations as described in the www.omim.org database. The book summarizes material from 11 peer-reviewed publications (2019-2025) and is a unique attempt to correlate systematically ascertained EDS symptom patterns with clinically interpreted DNA findings. Here's a breakdown of what the book covers and why it matters; a detailed summary follows:
 

The book explores Ehlers-Danlos syndrome (EDS) not just as a connective tissue disorder, but as a whole-body, multi-system condition with genetic underpinnings and ripple effects (MCAS, POTS, IBS) that resemble long COVID19.
 

 What’s New and Groundbreaking:

• It extends well beyond the Beighton score and brings precision medicine into the picture.

• Presents real-world data and genetic correlations from a massive EDS patient population—not just theory.

• Proposes that EDS could be a model disease for understanding aging, inflammatory, and gene interaction disorders.

• Pushes a new holistic model of care that incorporates autonomic, immune, neuro, and connective tissue systems.
   

Why It Matters for the EDS Community:

• Validates “invisible” symptoms like fatigue, dizziness, autonomic (POSTS, MCAS, IBS) and neuro issues as real parts of the EDS spectrum.

• Empowers more accurate diagnosis and prevention strategies.

• Explains the clinical genetic approach from Mendel to DNA cloning and provides a tutorial on understanding DNA testing methods and results

• Looks to the future of gene-based therapies (like repair/replacement of damaged connective tissue using the patient’s own (autologous) stem cells corrected for gene mutations.

• Bridges a gap between patient experience and scientific understanding of chronic multisystem illness.
   

Structure of the Book:

1. The “Skinny” Section – Knowing when you have EDS

   • Introduces the first of 21 patient presentations that show families and physicians how to recognize symptoms of EDS-dysautonomia.

   • Discusses the universal format of a medical evaluation, showing patients how to evaluate professional thoroughness and how to optimize care by being concise and focused.

   • Outlines how key symptoms can indicate possible EDS rather than psychiatric disease via the IHAVEDS acronym outlined above.

   • Shows how symptoms of the first 5 patients are variations on an EDS theme, 120 frequent history-physical findings documented in the first 638 patients used to quantify finding frequencies in 1261 with EDS.

   • This clinical EDS database, including 917 with DNA testing and 568 with EDS-relevant results, is the foundation of the book (available to scholars in deidentified form in the Supplemental Materials of the Wilson-Tonk 2024 reference above).

   • History, physical, and natural-family history forms are provided so that patients and professionals can compare numbers of findings to those in Dr. Wilson’s 1261 EDS patients.

   • Comparing ages of severe symptoms to those of diagnosis documents a 10 to 20-year delay in EDS recognition, systematic assessment showing an average of 36 findings for 1064 EDS females, 19 for 197 males, and less than 10 for 64 patients not meeting EDS criteria.

   • Systematic assessment of findings ranging from joint hypermobility-instability to skeletal deformation (scoliosis), skin elasticity-scarring, neuromuscular headaches-muscle weakness, and autonomic changes of POTS-MCAS-IBS quantitatively diagnoses EDS-dysautonomia rather than applying partial symptom labels like fibromyalgia or anxiety disorder.

   • Examines history and physical finding reproducibility in similarly aged females and highlights 60 more reliable EDS findings for patient group comparisons.

   • Quantifies a congruent and recognizable EDS profile with minimal variation among those with more hypermobility (hEDS) or unusual scarring (cEDS) and prioritizes EDS before type diagnosis.

   • Demonstrates the parallel occurrence of tissue laxity and neuro-autonomic findings and validates dysautonomia as integral and eminently treatable part of EDS.

   • A flow sheet for EDS recognition begins with hypermobility, excludes obvious brain or bone-related hypotonia, proceeds to EDS suspicion using the IHAVEDS acronym, and ends with systematic diagnosis supported by DNA results (considering possible other disorders including those with hypermobility-aneurysm-lethality by the mnemonic open the pod door Hal)

   • A preview of DNA findings found by whole exome sequencing defines a broad network of genes contributing to EDS (the EDS entome) with similarities to genes modifying COVID19 severity.
      

2. The “Science” Section – Understanding the Genetic and DNA basis of EDS

   • Reviews the history of medical genetics, pioneering physicians Garrod, and Bell realizing that Mendel’s factors (genes) could explain disease.

   • Describes characteristic single gene (Mendelian) inheritance patterns exemplified by Marfan or osteogenesis imperfecta syndromes and shows through family history analysis how EDS follows an autosomal dominant theme modified by background genes and environmental triggers.

   • The preponderance (85%) of females is accompanied by higher transmission risks of the broad, multifactorial EDS phenotype from females (18-22% likelihood) compared to males (2.7-4.4%).

   • Outlines how genes were characterized as segments of DNA on chromosomes and how they could be isolated and tested for sequence or copy number differences by genetic engineering.

   • Discusses how syndrome expertise (dysmorphology) like that of Dr. Wilson can distinguish malformation patterns more likely to have intellectual disability from the dysplasia pattern of EDS.

   • Contrasts DNA testing methods and results and presents a stepwise clinical DNA qualification protocol that yields 1-4+ DNA diagnostic utility rather than the near-ubiquitous variant of uncertain significance.

   • Suggests that a DNA-doctor divide including syndromology disrespect promotes false EDS type-gene matches and disregard for myopathic EDS contribution by mitochondrial and other genes).
      

3. The “Substance” Section – Deep Dive into EDS Mechanisms and Therapies

   • Combines the holistic assessment of the Skinny section with the genetic/DNA approaches of the Science section to detail EDS clinical findings and their DNA correlates by system (joint-matrix, bone, skin/urogenital dermis, heart, vessel, autonomic, neuromuscular).  

   • Demonstrates multiple gene changes in hEDS patients as mandated by a trait (hypermobility) essential to the evolution of human locomotion, upright posture, and digital dexterity.

   • Shows how changes in over 300 genes impact various connective tissue elements (dermis, bone, joint, heart, vessel) and their neural regulation to produce a congruent EDS symptom profile.

   • Presents an overview of preventive care and therapy based on the quantified profile of EDS symptoms and surveys the medications tried by the 1899 EDS patients in Dr. Wilson’s database.

   • Summarizes clinical-DNA data showing that EDS and long COVID19 share overlapping gene/environment responses, their overlapping gene networks (entomes) producing considerable symptom overlap (chronic fatigue, fainting/dizziness, joint-muscle pain, exercise intolerance, IBS, immune reactivity).

   • Ends by discussing hopes for EDS patients and the value of EDS research for understanding arthritis, aging, inflammation, and ways to ameliorate these morbidities by transplantation with gene-edited stem-cells.