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The LAM Story told by Francis Collins, MD, PhD, Director of the NIH

Director of the NIH, Francis Collins, MD, PhD, opens a Rare Disease Day Conference at the NIH with the story about how the LAM Community came together to lead the way to the FDA approval of Rapamune for the treatment of LAM.

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Tags: NIH Rare Disease Day

A new function of mTOR with implications for LAM cell growth and, perhaps, treatment

In an ongoing series of studies in our lab over the past 4 years, funded in part by a generous LAM Foundation Postdoctoral Fellowship to Issam, we set out to define the metabolic changes that occur when mTOR is activated both physiologically in normal cells and pathologically, upon loss of function of the tuberous sclerosis complex (TSC) genes, which underlies the development of LAM. These studies, which Issam lead in collaboration with two other postdoctoral fellows from the lab, Jessica Howell and Gerta Hoxhaj, made an important new discovery regarding the cellular functions of mTOR that contribute to its role in promoting cell growth. In two separate papers in Science1, 2, the most recent being published this February, we describe two previously unknown functions for mTOR that stimulate the synthesis of nucleotides, the building blocks for our genetic material RNA and DNA.

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Something New to Learn Every Year at LAMposium


Every woman has a story about her path to a LAM diagnosis. My story actually began with a diagnosis of mononucleosis. In late 2011, I was feeling so tired and weak that I could barely stand up. After a series of blood tests, my doctor sent me to the hospital, but the ER sent me home after the mono diagnosis. At age 48, jokes ensued.

But my doctor was convinced something additional was wrong, and after further testing and consultation with an endocrinologist, he diagnosed me with adrenal insufficiency, aka Addison’s disease. The abdomen CT he had ordered showed some lung nodules that he wanted to re-check in three months.

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ATAQ-LAM, a LAM Specific Quality Of Life Instrument


I don’t need to tell you what it’s like to live with LAM (or live with someone affected by LAM)—you’re the experts on that topic. Drawing on that expertise has created the underpinnings of my research program: go to the experts to try to more fully understand how a chronic respiratory disease affects patients (and their loved ones). It is only through such understanding that we—as clinicians and researchers—are able to try to devise strategies to lessen the negative effects these diseases have on how patients feel and how they function.

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FDA Approved Therapy for LAM in Less Than a (20 Year) Decade

The FDA-approved sirolimus for use in patients with LAM on May 28, 2015, almost exactly 20 years after The LAM Foundation was founded. The informal tag line for the Foundation back then was ‘an effective treatment in under a decade’, and the Board’s tongue-in-cheek position was that we could ‘use our own discretion’ to decide when the decade started. I am still not sure when the start date was, but I think we can assign the end date for the first effective treatment for LAM as May 28, 2015.

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