About The EDS Research Project

Our goals:

1. To bring attention to the public and health care professionals that Ehlers-Danlos syndrome is one of the most common, misunderstood, unrecognized and under-appreciated genetic disorders that has a myriad of lifetime health consequences from birth until death.
2. To continue our Ehlers-Danlos Clinical Research Program at Boston University School of Medicine to identify gene mutations that are associated with this autosomal dominant genetic disorder.  Results from these studies will provide a better insight for how to treat and mitigate many of the health problems associated with this disorder.  The goal is to that by understanding the genetics of this disorder that molecular biology techniques can be developed to treat and ultimately cure Ehlers Danlos syndrome hypermobility type.
3. To educate those with Ehlers-Danlos syndrome hypermobility type about the myriad of medical symptoms and medical conditions that are associated with this genetic disorder. To provide information of treatment therapies and options to deal with different clinical manifestations of Ehlers-Danlos syndrome hypermobility type.
4. To assist families with Ehlers Danlos syndrome hypermobility type and alert them to many of the associated medical conditions  including joint issues , skeletal fragility and easy bruisability in order to avoid accidental trauma 
5. To alert pregnant women with this genetic disorder that they have a high risk pregnancy and to develop methodology for prenatal testing for this genetic disorder.

Ehlers-Danlos Syndrome Clinical Research Program

What we do:

• Pursue path-breaking clinical research into the genetic basis of the syndrome
• Create a diagnostic genetic panel for the syndrome
• Study the efficacy of available treatments
• Work ceaselessly toward a cure

Letters of Support

Dr Rochelle R Friedman

To Whom It May Concern

I am writing this letter in support of Dr. Michael Holick. I have been Dr. Michael Holick’s patient for many years. I was originally referred to Dr. Holick by my husband, Dr. Robert Friedman, who was a colleague of Dr. Holick’s at Boston Medical Center (BMC). My husband knew Dr. Holick well and considered him both a brilliant scientist and a superb clinician, a combination that is hard to find.

The history of medicine is such that, over the years, as more and more is learned, old beliefs are being replaced by new ones which are hopefully based on scientific evidence rather than on an entrenched theory. I can remind younger physicians that autism and schizophrenia were blamed on cold, unloving mothers; sudden infant death syndrome (SIDs) was thought to be caused by parents smothering their babies; and, miscarriage was said to result from pregnant women ‘rejecting’ their fetuses. At the present time, these beliefs seem ridiculous, but it wasn’t long ago that they were held to be true.

I have always known Dr. Holick to be curious about how the body works, unwilling to accept current notions about what is and is not true, and eager to figure out puzzling medical issues that defy common understanding. I believe that Dr. Holick’s work on Vitamin D and on Ehler’s Danlos Syndrome has been opposed, not because he is wrong, but because his research does not support the prevailing system of beliefs.

In a thoroughly appropriate effort to deal with abuse of children by parents or other adults, children who present with multiple bruises and broken bones are considered as victims of child abuse until proven otherwise. That is, parents are considered guilty until proven innocent, which is the reverse of the usual legal process. Dr. Holick’s work takes him into this fraught area of medicine. He has found that Ehler’s Danlos syndrome, which is a genetic syndrome that weakens both bones and connective tissue in the body, can cause multiple fractures in infants with this disease and/or with Vitamin D deficiency. Dr. Holick has also found that fetuses whose mothers have Ehlers Danlos Syndrome can be found to have bone fractures while still in utero. Sadly, we live in a world in which many things have been politicized and in which power often trumps truth. I believe that such is the case regarding Dr. Holick who has attempted to challenge the belief that broken bones in children are always an indication of child abuse and his disagreement with others in his field about how Ehler’s Danlos Syndrome and Vitamin D deficiency can affect children.

I wholeheartedly support Dr Holick and his courageous, groundbreaking efforts to challenge medical norms and offer compassion to parents already deeply affected by their children’s critical medical problems. Sincerely, Rochelle Rame Friedman, MD.