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 

Questions in Search of Answers in 2018

Questions Without Answers

Why do some BAVers tear/rupture their aorta?

Why do some BAVers have aneurysms that do not tear or rupture?

Why are there BAV/aneurysm and  TAV/aneurysm in the same family?

Why do some BAVs calcify and narrow?

Why do some BAVs leak?

Why do some BAVs do both: calcify/narrow and leak?

Why do BAVers get infection (endocarditis) in their hearts? 
Why do some BAVers develop blood pressure issues?

Why are many BAVers so athletic and energetic?
Why do many BAVers (and their TAVer family members) have "delicate tissue", joints prone to injury, "bad eyes", and other issues through out their bodies?
Why can't my doctor tell me ......?

Why............?

Why............?

Why............?

There are so many unanswered questions when it comes to the individualized care that each person with BAV and their blood relatives should have.

As this year comes to a close, we invite you to support our search for answers. Many of those answers may be found in the mice families being studied at the University of Ottawa. With your help, the Bicuspid Aortic Foundation wishes to continue to support this vital work. Online donations through Razoo may be made here. 


Thank you for joining us in our search for answers.

Best wishes in 2018,

~ Arlys Velebir

                       Bicuspid Aortic Foundation 

Urgent Call to Support BAV Research

Introducing Some Special BAV Families 

I do not have any pictures of them to share. Perhaps you can imagine them. 

They seemed to have such active, busy lives. Until suddenly, unexpectedly, they died. "Spontaneous deaths" they were called.

When I heard their stories, I cried. 

Why did they die like this?

We are fortunate that someone looked so carefully inside, seeking to answer that question. In their hearts they found something we at the Foundation have come to know all too well, an aortic valve with only two leaflets.

Human Bicuspid
Aortic Valve

Yes, they all were from BAV families.

They reminded me of  many we have met over the years, fellow travelers along the lifelong journey with BAV.

Before going further, let me explain why they are so special. They are families of mice, engaged in research. They live in the Molecular Genetics and Cardiac Regeneration Laboratory at the University of Ottawa.  Please click on the name to visit this laboratory dedicated to understanding our hearts.

Mice? Yes, they are BAV mice, mice with specific, known, genetic abnormalities. They are the first in a laboratory to consistently have bicuspid aortic valves and so strikingly mirror our human experience.

Just like us, these BAV mice families are far from straight forward. Some family members have obvious BAV, some do not. Some suffer tragic complications and premature deaths, others do not.

Our Doctors Simply Do Not Know Enough Today
Today, so little is known that doctors cannot predict very well how severe the consequences will be in the lives of those in BAV families. This is why some of us discover with time that their predictions turn out to be incorrect.

Professor Mona Nemer and the researchers in her laboratory aim to change that! They are learning so much from these wonderful little creatures and their special hearts and bodies.

The most immediate impact from their research will be the identification of biomarkers, predictive tools that can be used to test for and prevent tragedies, to distinguish between those who will have a more normal life and those who face major risks and need individualized, proactive monitoring and care.


Someone Who Understands 
As I listened to Professor Nemer speak recently, I was thrilled to hear a scientifically-based, compassionate discussion that described the BAV challenge so well. I credit these mice for being amazing teachers, representing us so accurately to these also amazing and talented researchers who seek only to understand, and in understanding, help alleviate human suffering. They have just begun to shed light on the answers our doctors so desperately need. This even includes the labile blood pressure issues that plague some BAVers during their lifetimes.

You Can Help Too!

This is the first research effort that the Bicuspid Aortic Foundation has found so compelling that we are directly fundraising in support of it.

Every 12 seconds, somewhere in the world, a child is born with BAV. Today, I have fresh hope that a new day is dawning, and their future, and that of all those living today, need not be so uncertain.

The most powerful thing that we can do today is support Professor Nemer's work.

  

Please, click here to donate.

This holiday season, 

may you know the joy and peace 

that comes to those who give from the heart,

Creating a Climate of Hope.

~ Arlys Velebir

                          Bicuspid Aortic Foundation