BAV Aortic Aneurysm Research Break Through

Diseased Aorta - Enlarged and Twisted Shape

This week we have exciting news to share about BAV aortic aneurysm research.

Desperate Need to Understand and Help
We are in desperate need to better detect, understand and appropriately help those with BAV and aortic aneurysms and their families.

Writing this, I remember  Doug Grieshop,  Forever 33, who left a young son and unborn daughter the day that his aorta ruptured. His BAV was never diagnosed, his aneurysm never found in life - only by autopsy.

Researchers Are Unmasking the Villains
At BAF we are very excited by published research, highlighted in the press this week, describing cellular villains in the aortic wall that destroy tissue around them and weaken the aortic wall.

This is work lead by Dr. Pickering, a research scientist, and Dr. Chu, an aortic and cardiac surgeon, who have collaborated to study aortic tissue removed from human patients. They have published their findings, reporting on the existence and trouble caused by abnormal smooth muscle cells in the wall of the aorta. 

According to Dr. Pickering, these abnormal cells produce an enzyme that eats away at the tissue around them, destroying and weakening the aorta. 

Following are press release and links with more information
Exchange Magazine  

Robart's Research

Dr. Pickering's background.

Dr. Chu's background.

Research Paper: Seno-destructive smooth muscle cells in the ascending aorta of patients with bicuspid aortic valve disease

Light Breaking Through the Mysteries 

Can Light Shed by Research Translate to Better Care?

This give us tremendous hope, but there is much more to do.

We know from the work done at Dr. Mona Nemer's Lab on GATA about the genetic abnormalities and BAV in mice families, who are so very much like our human families.

There are studies of abnormal blood flow through BAVs, of aortic wall stiffness.

There are studies about the leaflet configuration abnormalities of BAVs.

There are many things to study!

Now we know something important about the aorta tissue - that these abnormal smooth muscle cell secretions are breaking down the aortic wall!

There is not just one thing, but many things, to think about! What else is happening, that we do not know today? No doubt there is more to understand.

Light is just beginning to shine on multiple factors, some combination of which is making each BAVer experience somewhat unique, but with common tendencies and themes.

Aneurysms and Abnormal Smooth Muscle Cells
If we can identify these smooth muscle cell villains, can we get rid of them before they cause trouble?

Can we find out what causes these smooth muscle cells to become abnormal and prevent that from happening?

The Challenge of BAV Misunderstandings
It is a very difficult challenge when someone is the picture of glowing health on the outside, vibrant and active, but with a serious vulnerability on the inside - prone to aortic valve failure, aneurysm, infections.

Anything that sheds light on what is wrong on the inside helps both patients and physicians believe the reality of the BAV experience.

In the future, if aortic aneurysm disease were better understood, it might help physicians think about and look for BAV and an aneurysm in someone young and healthy-appearing with symptoms, like Doug Greishop, in time to save them. He lived in a state with world-renowned aortic surgical capability. It is tragic that he did not know, that no one knew in time, that he needed that expertise.

While we rejoice over the research and wait for it to translate into better care, we are very grateful for every successful aortic surgery that saves someone born with BAV and their TAV family members! And we do not forget those we have lost.

Today, we see light breaking through, but BAVers remain vulnerable. 

Someday, there will be more light than shadows in the experience of BAV families!

Answers are beginning to come,

Creating a Climate of Hope!

~ Arlys Velebir

                           Bicuspid Aortic Foundation

 

A Visit to the Molecular Genetics and Cardiac Regeneration Laboratory

So honored to be pictured here with the Molecular Genetics and
Cardiac Regeneration Laboratory researchers. Dr. Mona Nemer is 6th from the right

We met Dr. Mona Nemer initially through a phone call in December of 2016. As she described her work that day, at some point tears began to flow from my eyes. After searching for so long, someone was describing the BAV experience, in both individuals and families, just the way it happens, in my own family and so many others. Without minimizing, without trivializing, Dr. Nemer so fully described what I so painfully know to be true - the unpredictable and sometimes deadly experiences in BAV families.

Dr. Nemer is not a "people" doctor. She is a research scientist. And those individuals and families she talked about so movingly were not human beings, they were mice. Yes, mice families, but oh so much like my own! Families with bicuspid aortic valves and the other complications that can go with it.

I told my husband about these mice - about their two leaflet heart valves, their aortic aneurysms, their dissections, and their high blood pressure! We felt such a kinship to them. From that day onward, we had hope that these researchers would learn even more from these wonderful creatures, things that could help human families like ours and the many millions scattered around the world. It was a hope my husband remembered through out what became the last weeks and days of his life.

I dreamed of just spending a little time in this laboratory, meeting these talented researchers, and seeing these wonderful mice. In September, 2018, my dream came true! It was thrilling to walk into that very special laboratory at last - a place so focused on the challenges of BAV!

Dr. Lara Gharibeh and Dr. Alice Lau sit next to one another in the lab,
 such wonderful collaboration as they search for answers about BAV!

So special for me to look through this microscope that
 they use to study BAV in mice hearts!

Front left, Dr. Bernard Jasmin, Dean of the Faculty of Medicine, Front right, Dr. Mona Nemer
Back far right, Dr. Daniel Figeys, Chair of Dept of Biochemistry, Microbiology, & Immunology
The motto of the Medical School "We teach to heal" is on the wall in French and English

This laboratory is located at the University of Ottawa, housed within the Department of Biochemistry, Microbiology, and Immunology within the Faculty of Medicine. We were warmly welcomed by the Dean of Medicine, Dr. Bernard Jasmin, along with others, spending time getting acquainted before  a very special afternoon of research presentations by three members of the lab: Dr. Lara Gharibeh, Dr. Alice Lau, and Dr. Yuejuan Xu.

In September 2017, the Bicuspid Aortic Foundation provided a scholarship to Lara Gharibeh in support of her research on BAV. This is the paper that she published based on that work:
GATA6 Regulates Aortic Valve Remodeling, and Its Haploinsufficiency Leads to R-L Type Bicuspid Aortic Valve   The full paper is freely available at that link and speaks to the excellent, meticulous work done in this laboratory.

A few years ago, I wrote about BAV families being strangers, unrecognized and misunderstood, when they seek help.   Bicuspid Aortic Valve Families - Strangers in Two Worlds?  At long last, this first day and on the following days there in Ottawa, as a representative of BAV families, I was so warmly welcomed and understood by those who are working very diligently to understand and help us. It was a wonderful feeling, beyond description!! I have that warm glow with me still. I want to thank these researchers once again for what they are doing to help us.

Thank you for recognizing the challenge

and caring about those with BAV,

for seeking answers to the mysteries,

and in doing so,

Creating a Climate of Hope!

~Arlys Velebir

                           Bicuspid Aortic Foundation

Bicuspid Aortic Foundation Announces 2018 M.E. Abbott Scholarship

Lara Gharibeh, PhD, Arlys Velebir, BAF, Alice Lau, PhD
Lara was awarded the 2017 M.E. Abbott Scholarship
Alice is the recipient of the 2018 M.E. Abbott Scholarship

The Bicuspid Aortic Foundation is pleased to announce that the 2018 M.E. Abbott Scholarship is awarded to Alice Lau, PhD.  Alice is a researcher in the Molecular Genetics and Cardiac Regeneration Laboratory led by Dr. Mona Nemer at the University of Ottawa.

Recently I spent some wonderful days with these dedicated and talented young researchers. It is hard to find the words to describe walking into the laboratory where they spend their days and often labor late into the night, pursuing answers to what are life and death questions for those with BAV and TAD. 

Lara and Alice in the Nemer Lab

They seek these answers in the mice families that are so similar to their human counterparts. Some have aortic valves with only two leaflets, others have all three leaflets. Some have aortic aneurysms, and some do not. Why do only some have the bicuspid valve? Why do some dissect while others do not? Why do some have a seemingly carefree life, and others get into serious trouble? These mice families have the same genetics. So what makes the differences?

If we could understand these things, we could understand better who is in the most danger in our human families, and so many other things we want to know.  

Their work with such tiny hearts is aided by microscope and computer displays

Through the generosity of so many, BAF is able to support their research through these scholarships. In doing so, we are all truly supporting ground breaking research. As they publish their results, we will share them with you.

Supporting these brilliant, young researchers,

Together, we are

Creating a Climate of Hope

~ Arlys Velebir

  This link gives background on why this scholarship

 is given in the name of pioneering physican  Dr .M.E. Abbott