Shooting for the Moon in Honor of Mesothelioma Awareness Day

As Mesothelioma Awareness Day approaches, it's the perfect time to raise awareness about this rare form of cancer and the amazing potential for progress now in sight thanks to the Cancer Moonshot project. Established in 2004, Mesothelioma Awareness Day (September 26th) exists to bring funding and attention to mesothelioma, a rare yet aggressive and deadly form of cancer. So, how much can the Cancer Moonshot do to bring an end to Mesothelioma?

Mesothelioma

Mesothelioma is a rare form of cancer, with only about 2,000 to 3,000 new cases annually in the US. In cases of malignant mesothelioma, cancer cells form in the thin layer of tissue lining the abdomen, chest wall, or lungs, or, less commonly, in the testicles or heart. Long-term asbestos exposure is the primary cause of malignant mesothelioma in adults. This exposure puts not just the person who was originally exposed at risk, but also that person's family members. This kind of malignant mesothelioma typically takes 10 to 40 years to develop after exposure.

Pediatric mesothelioma is different in that it can spontaneously generate and does not necessarily have a link to asbestos exposure. In fact, most cases of pediatric mesothelioma seem to have no apparent cause, making prevention difficult. It is also exceedingly rare, as most cases of mesothelioma are in older adults.

The Cancer Moonshot and Data Siloing

In January of 2016, President Barack Obama announced the Cancer Moonshot project during his State of the Union address. The goal of the initiative is to double the amount of research progress in the fight against cancer by putting more money, cooperation, and focus on the most promising areas; by making more therapies available to more people; and by ensuring that the siloing of cancer research data comes to an end. The initiative is led by Vice President Joe Biden who directs the Cancer Moonshot Task Force; they are advised by the National Cancer Advisory Board (NCAB) and its working group, the Blue Ribbon Panel dedicated specifically to the Cancer Moonshot.

The issues that the Cancer Moonshot have identified are perhaps not surprising to anyone who is passionate about rare diseases generally or a specific rare disease such as mesothelioma. Nevertheless, they are notable and deserve our close attention.

First, the issue of siloing of data, research results, and scientific knowledge generally is a tremendous problem for all sufferers of rare diseases—people who make up about ten percent of the US population. While cancer immunotherapy, combination therapies, and genomics hold incredible promise for patients, siloing means a lack of access and progress.

As of the time the Cancer Moonshot was announced, only about 5 percent of American cancer patients participated in clinical trials for new treatments. Most of them don't have access to their own results and data. Furthermore, most oncologists simply don't have access to the latest advances in treatment research and technology.

Historically, the raw scientific data collected by researchers throughout the course of studies becomes the property of the institutions that the researchers work for. The end result is mountains of data locked away in each individual research institution, but no central repository from which truly groundbreaking conclusions and progress may spring. The need to detect biological and genetic patterns that could reveal the mechanisms that enable cancer to manifest and grow makes sharing and collaboration essential.

The Cancer Moonshot initiative has now identified one of its key goals: the creation of a National Cancer Data Ecosystem. This would be a free “one-stop shop” for research data on cancer available to patients and researchers alike. Patients could upload their own data and in turn receive information about their particular variety of cancer.

Collaboration is also going to be critical for making new treatments like immunotherapy more effective. Currently, only 20 percent of patients get the full benefit of immunotherapy treatments. Researchers hope that by pooling all existing knowledge about immunotherapy treatments and practices more effective forms of immunotherapy might be developed.

This kind of information sharing should also benefit genomics treatment projects such as the Collaborative Cancer Cloud. This project aims to create tailored gene therapies for each patient, and to do that it needs to access huge amounts of data on genetic mutations, cancer surveillance, and treatment effectiveness.

New Treatments Arising from Moonshot Research

In September 2016, the Blue Ribbon Panel reported back to the Vice President with recommendations for the rest of the Cancer Moonshot initiative. The report contains ten suggestions which will form the “research blueprint” for the rest of the project.

Cancer Immunotherapy in Focus

Ideally, the body's natural immune system works to prevent cancer by detecting and destroying cells that are abnormal. However, cancer cells can sometimes avoid being detected and destroyed by the body's immune system. They have several ways of avoiding the defenses of the human immune system:

  • Some cancer cells make it harder for the immune system to see them by reducing the expression of tumor antigens on their surface;
  • Some cancer cells inactivate immune cells by expressing proteins on their surface; and
  • Some cancer cells can both promote their own proliferation and survival and suppress immune response by inducing surrounding cells to release immune suppressing substances.

Knowing these tactics employed by cancer cells, researchers have pursued the field of cancer immunology, which has emerged over the past few years. The new techniques for treating cancer created in this field, called immunotherapies, all have the common goal of increasing the strength of immune responses to tumors. Immunotherapies can do this in several ways, but most methods boil down to countering specific cancer cells that suppress immune responses, providing man-made immune components, or stimulating smarter or stronger immune system responses generally.

So far immunotherapy is more effective against some kinds of cancer than others; for those varieties, immunotherapy alone may be enough treatment. For cancers that are less responsive to immunotherapy, at least so far, immunotherapy can still boost the effectiveness of other treatments when used in combination with them.

Several broader research questions related to cancer immunotherapy remain, and these too will be pursued as part of the Cancer Moonshot initiative:

  • Why is immunotherapy effective in certain patients with one type of cancer but not in others who have the same type of cancer?
  • How can we expand the use of immunotherapy to more varieties of cancer?
  • How can we increase the effectiveness of immunotherapy by combining it with other treatments like chemotherapy, targeted therapy, and radiation therapy?

Kinds of Cancer Immunotherapy

Once you understand the many kinds of cancer immunotherapies already under development, it is easy to see why the Cancer Moonshot experts find this area so promising. Here are the kinds of cancer immunotherapy that exist today.

Adoptive Cell Transfer

In adoptive cell transfer, an experimental form of immunotherapy, some patients with very advanced cancers have been completed cured. These patients primarily suffered from blood cancers. ACT works when T cells from inside the tumor of a patient, called tumor-infiltrating lymphocytes (TILs), are collected. Those TILs are then tested to see which show the greatest recognition of the patient's tumor cells. Those selected are then grown into large populations in the laboratory and activated by cytokines, immune system signaling proteins. Finally, the treated TILs are infused into the bloodstream of the patient.

This works because the most successful T cells are multiplied and put back to work. With greatly increased numbers they can then shrink or even kill off the tumors.

A similar method is called CAR T-cell therapy. This works by collecting T cells from the blood and then genetically modifying them to express CAR, a chimeric antigen T cell receptor protein. Then, as in the other ACT technique the modified cells are grown into large populations and reintroduced into the patient. Once inside the patient, these new CAR T cells attach to the surface of the cancer cells and attack them.

Monoclonal Antibodies to Treat Cancer

The immune system can attack invading substances like cancer cells by manufacturing many antibodies, proteins that sticks to antigens, specific proteins carried by enemy cells. Once so “marked” by the antibodies the entire immune system can get involved and fight the cells that contain that antigen.

Monoclonal antibodies (mAbs) are antibodies designed to target a particular antigen like those found on cancer cells. Scientists can make these mAbs in large numbers in labs, and these can be used to treat some cancers. In fact, more than one dozen mAbs have been approved to treat various cancers by the US Food and Drug Administration (FDA).

Naked monoclonal antibodies are the most common kind of mAbs used to treat cancers. These work without any radioactive material or drug attached to them.

Conjugated monoclonal antibodies, also called labeled, loaded, or tagged antibodies, are joined to either a radioactive particle or a chemotherapy drug so that the mAbs can be used to locate cancer cells and take the treatments directly to them. This helps lessen the damage caused by these treatments to healthy cells.

Radiolabeled antibodies are joined to small radioactive particles. These are used in radioimmunotherapy (RIT). Chemolabeled antibodies, also called antibody-drug conjugates (ADCs), are mAbs that carry drugs, usually chemotherapy drugs. Both of these are types of conjugated monoclonal antibodies.

Bispecific monoclonal antibodies are drugs that contain two different mAbs; this allows them to attach to two different proteins simultaneously.

Some therapeutic antibodies bind to cancer cells and cause apoptosis or cell death. In other cases, the binding antibody is recognized by specific immune cells or proteins, which then cause the cancer cells to die by cytotoxicity.

Immune Checkpoint Modulators

Obviously, to work properly the immune system must be able to distinguish between normal, healthy cells and “invader” cells. It needs “checkpoints” to do this. Checkpoints are molecules on some immune cells that must be activated or inactivated in order to prompt an immune response. Cancer cells can sometimes avoid or use these checkpoints to avoid detection or attack; this is why treatments that target checkpoints are promising.

There are two kinds of cytokines, proteins that normally modulate or regulate the activity of the immune system, that are being used to enhance the human immune response to cancer: interferons and interleukins. Some of these proteins activate white blood cells like dendritic cells and natural killer cells.

Researchers are also working to develop more drugs that target checkpoint proteins on T cells such as PD-1 or PD-L1. These checkpoint proteins act as “off switches” for the immune system and are intended to protect healthy cells. However, these are also found on some cancer cells, a defense mechanism against attack.

Benefits of Immunotherapy

Cancer immunotherapy offers some clear benefits. First of all, it has the potential to fight many different types of cancer. Because it enables an effective response from the human immune system, effective immunotherapy would provide a universal cure for cancer. Immunotherapy is already effective against many varieties of cancer, including some that have resisted traditional treatments like chemotherapy and radiation (melanoma, for example).

Effective cancer immunotherapy is more likely to produce long-term cancer remission because it “trains” the immune system to fight and remember cancer cells. Longer lasting remissions could well be the result of the human “immunomemory.” Furthermore, many clinical studies on cancer immunotherapy have already demonstrated long-lasting beneficial results.

Cancer immunotherapy is less likely to produce as many terrible side effects as chemotherapy and radiation do. This is because it is more targeted and protective of healthy cells. Typical immunotherapy side effects resemble the symptoms of fighting off infection, such as fever, inflammation, and fatigue, although some immunotherapy carries with it more severe side effects mimicking symptoms of autoimmune disorders.

In all, the potential benefits of successful cancer immunotherapy are tremendous.

Conclusion

On the eve of the 12th Mesothelioma Awareness Day, the Cancer Moonshot has provided a new sense of hope and progress. With its focus on cancer immunotherapy and enhanced cooperation and access to information, the Cancer Moonshot reveals an intelligent approach that has an ambitious yet realistic goal. Mesothelioma awareness advocates hail the Cancer Moonshot as a commitment even to rare forms of cancer that are often overlooked, because the benefits are clearly going to be felt by our community.

From a rare disease perspective, the Cancer Moonshot model is particularly appealing. Will a success in this area provide a new paradigm for a more collaborative fight against rare diseases in the future?

Karla Lant is a freelance writer and editor who volunteers for the Rare Genomics Institute.

Rare Genomics is a finalist for the 2016 Drucker Prize!

The winning nonprofit organization, which receives a $100,000 grant, will be announced on September 30. The Rare Genomics Institute was selected from 50 semifinalists—out of 500 applicants—after completing mini-courses that covered innovation and nonprofit performance. Rare Genomics answered questions on our current organizational practices and how we could implement the new ideas that were presented through the mini-courses.

The Drucker Prize, formerly known as the Peter F. Drucker Award for Nonprofit Innovation, has been awarded since 1991. Winning organizations represent the Drucker Institute's definition of innovation: "change that creates a new dimension of performance." Nonprofits are judged on effectiveness, the difference their programs can create in the lives of people they serve, and their innovative impact.

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BeHEARD 2015 Winner Update: Progress on Rare Skin Disorders

Heather Etchevers, a research scientist at the French National Institutes of Health, is a two-time winner of the BeHEARD competition for support for her research on identifying mutations that lead to giant congenital melanocytic nevus (CMN), a pigmented birth defect of the skin that requires surgery to remove.

In 2013, Heather was selected to receive a supply of JumpStart TAQ ReadyMix, a PCR reagent, from Sigma Life Sciences, which led to her lab finding the mutation responsible for CMN in eight patients. Heather was also able to use leftover reagent supplies for ongoing research to identify the genetic cause behind a second rare disease, cutaneous arteriovenous malformations. Her lab was able to eliminate one of four likely genes as a potential cause, a result that was written up for journal publication. During 2015, Heather was awarded $10,000 worth of existing mouse models from The Jackson Laboratory’s live repository, from which she selected six defined lines.

Heather and her team, “…are looking forward to using a so-called reporter mouse strain to monitor the activation of a particular signaling pathway in individual cells. With the animal model and cellular tools we are developing at the moment, [we will] develop innovative approaches to curing the worst effects of CMN syndrome (cancer, neurological deterioration) and managing the ones with psychosocial impact, such as a strikingly different appearance, relentless itchiness or otherwise less than fully functional skin.”

"It's always a tremendous challenge to attract research funding for rare diseases - even more so when we are carrying out fundamental studies in mechanisms and causes", says Heather. "RGI BeHEARD did just that - the fact that an award was attached made our research more visible and attractive for other funders."

DNA Dash

Rare Genomics Institute Calgary Executive Vyoma Shah talks about her personal experience with RGI and the DNA Dash in an interview with Global News Calgary.

BeHEARD 2015 Winner Update: Progress on Opitz C Syndrome

Dr. Roser Urreizti is a postdoctoral fellow at CIBERER, Universitat de Barcelona (Spain). Roser’s work focuses on searching for the gene or genes responsible for Opitz C Syndrome, by means of whole exome sequencing and functional studies. One of the distinguishing features of C Syndrome is a condition in which the skull is a triangular shape, primarily due to premature closure of the cranial sutures. The disease is also characterized by mental retardation, loss of muscle tone, abnormalities of the sternum, facial palsy, webbed fingers and/or toes, contractures, short limbs, heart defects, failure of one or both testicles to move down into the scrotum, (cryptorchidism), abnormalities of the kidneys and lungs, deformity of the lower jaw, and seizures.

In the 2015 BeHEARD Competition, Roser was awarded whole exome sequencings from Euformatics, which allowed her team to confirm that they had found the genetic cause behind the disease.

“In the patients analyzed by the Euformatics platform, we have identified the disease-causing mutation,” says Roser. “We have already started functional studies for every one of the genes associated with the diseases. None of them had been previously associated with Opitz C syndrome. We hope we will be able to test therapeutic approaches (molecular chaperones) in one year in a near future. We have started a collaboration to test selected FDA approved drugs on a patient's cells in a search for therapies once the functional studies confirm the relation between the mutation and the disease.”

Three Tips for Crowdfunding for Medical Expenses

With the high cost of medical care in the U.S., an unexpected medical crisis or diagnosis can be disastrous for many Americans. When Americans were asked in an NBER study if they could come up with $2,000 to meet an unexpected expense within a 30 day time frame, nearly half said no. With the rise of the internet to conduct business virtually, crowdfunding through personal networks has become an important tool for people facing crushing medical bills. In fact, one study found that the rise in crowdfunding campaigns was directly correlated with a 3.9% reduction in medical bankruptcies in the U.S. in 2014. While crowdfunding may seem straightforward, there are many different steps you can take to maximize your donations. Here are three strategies that we teach as part of our Amplify Hope training program that may not be obvious to the novice crowdfunder.

Start with some money

Sure, if you had a ton of money lying around, you wouldn’t be crowdfunding in the first place. But seeing that others have donated sends a signal to potential donors that a campaign is legitimate and has a chance at success. In our Amplify Hope study question, “How important is it for you to fund crowdfunding projects that have already received substantial donations from others?” most donors (77.8%) responded that it was at least moderately important, indicating that social recognition and the performance of campaigns is a key factor in the decision to donate. Furthermore, respondents were asked “How important is it to fund projects that are close to meeting their fundraising goal?” and 85% responded moderately to very important.

This phenomenon is supported by other research as well: a 2013 study found that donors on Kickstarter were much more likely to support projects that were near their goals, viewing these projects as more likely to be successful, and that nearly all projects on Kickstarter that reached 50% of their fundraising goal were eventually fully funded.

At RG, we advise all of our crowdfunding patients to try and raise 20% of their goal prior to a campaigns “official” launch day, so that when their campaigns launch, it creates the impression that the campaign is already well on its way to success. This can be done through putting a portion of your own money in the campaign, or by contacting people who you already know are likely to donate (mom, dad, grandparents) and asking them to make their donation ahead of the official launch.

Post a video

A video may seem like a lot of effort, but not having one could hurt your campaign. A study found that not having a video decreased a campaign’s chance of success by 26%. In RG’s Amplify Hope study, all of our successful campaigns posted both a campaign video and several photos. While it’s up to you how much you are comfortable sharing, in RG’s experience, there is no such thing as providing too much information. New content, like videos, photos, and updates gives you an excuse to repost the link to your campaign to your entire network, and keeps donors, or those who may be considering donating, engaged with the campaign. Other research also backs this up, demonstrating that updates serve as “legitimizing signals” to potential donors that campaign managers are committed to the process and likely to use the money wisely, and that successful projects usually had a public or private update near their campaign’s target end date.

Use Facebook, but don’t forget more traditional outlets

Studies by multiple authors agree that having a large number of friends on online social networks is correlated with successful crowdfunding campaigns. In our study, most donors heard about our participants’ crowdfunding campaigns through social media (61%). Of those that responded that they learned about the campaign through social media, 89% of them found out through Facebook, which might lead you to conclude that Facebook is a good place to focus efforts.

However, our study also found that contribution amounts from donors who were approached via word-of- mouth, email, and phone were substantially higher than those from donors contacted through social media. Additionally, individuals in our study who had the best fundraising outcomes did not necessarily have the most actively shared posts or more visitors to their crowdfunding page (as the “click rates” have indicated). Rather, these organizers followed our training materials’ recommended guidelines, and initiated communication via phone calls and emails to their network. While social media can help you cast a wide net, a personal appeal through more traditional outlets can actually help you raise more money, and get the word out to people who are not social media users or who check infrequently and might miss your updates.

Leading the Way: Positive Exposure (Part Two)

At the Rare Genomics Institute, we understand that enacting change cannot happen unilaterally and that solving medical mysteries does not come without teamwork. We stand proudly at the forefront of the utilization of genomic sequencing for the purpose of identifying, treating and hopefully curing rare diseases. At the same time, we realize there are many other people outside of our organization who are just as fundamental to the fight against rare diseases as we are. The team at RG is inspired by those who dedicate their lives to helping others affected by rare disease. Here is one of their stories:

Last time we began to showcase a remarkable individual whose chosen path in life is to convince the world that all people are beautiful. Rick Guidotti creates positive imagery where others choose to ignore it: his photographs allow the viewer to realize that everyone, no matter their disability or condition, is beautiful.

Beautiful Light:

This does not come without its challenges. Before photographing those with Fragile X Syndrome (a genetic marker for Autism), Rick did not know that those with the disease prefer not to look into other people’s eyes. When attending an event with the hopes of photographing some children with Fragile X, Rick was surprised when many of the children ran away from him screaming.

Looking into a camera was apparently a scary experience for these children. In an effort to remedy the situation, Rick began photographing a little girl’s doll and showing her the pictures. Giggling, she brought Rick all of her dolls to photograph. After running out of dolls, the girl showed Rick her friends at the event, and then her family. Eventually, Rick had photographed everyone in the room.

Rick’s technique in photographing his subjects (or as he refers to them, “Ambassadors”) should be noted:

(I) just turn the light on these amazing people that normally don't have a light shined on them and they're usually beaming. So many times it’s not just the person that’s beaming on the set, it’s their families that are off set that are beaming even brighter: their kids are finally being seen the way that they should be…People have so much to offer, no matter what their capacity happens to be, the joy is in there. That's what we need to see. There isn't anybody that should never be seen in that beautiful light. We should all be seen in that light. That's what Positive Exposure is about: to make sure that everybody, everybody has that opportunity.

Faces Redefining Medical Education:

Medical textbooks and training materials are in dire need of more humanized photos of people living with disease. Most imagery found in those materials is stark: it is designed to show the (often literally) naked and harsh reality of physical deformity. It ignores that those living with diseases are people, rather than objects. In designing photographs to show simply how a disease presents itself, the makers of medical texts often ignore the human element in their pictures.

Through Positive Exposure’s FRAME (Faces Redefining Medical Education) program, Rick is working with the medical community to re-craft ideas of what an appropriate image can be in a medical model.

Rick began his work on the FRAME project highlighting Marfan’s Syndrome, “I thought, as an artist, how can I present Marfan's Syndrome (with) all the information you need as a healthcare provider in training to identify Marfan's, but let’s add the most important, key ingredient which is missing in all these photographs: humanity.”

The reason for the FRAME project is simple, “Nobody, and this is across the board; nobody wants to be seen as a disease or diagnosis. We always want to be seen as a person, first and foremost. (We) also have an opportunity to see all of these great Ambassadors the way someone that loves them sees them: through the eyes of their mom or dad, through the eyes of their partners or their children or their siblings or their best friends.”

The FRAME project doesn’t end at still photographs, however. FRAME’s foundation is a series of short videos (around 10 minutes in length) that highlight the hallmarks of a disease or condition. The twist that makes these instructional videos more impactful than most: they’re told from the perspective of either someone living with (or a loved one of someone living with) a particular disease or condition.

The impact of these much more personal experiences cannot be overstated, “senior physicians have never even heard of some of these conditions before. But med students can get seven minutes where they can learn from Winnie, what these conditions are, and (they’re) going to remember it…They're going to be better healthcare providers because they saw these kids not in the clinical environment. They met these kids being kids. They met these kids not in crisis.”

Pearls Project:

Positive Exposure has taken the sentiment of the FRAME program one step further with a project simply titled, “Pearls.” It is clear that not only the medical community, but rather society at large, could benefit from a fuller understanding of each of its members. In collaboration with the Museum of Tolerance, Positive Exposure has facilitated an in-person/online hybrid educational opportunity for children and young adults so that people may begin to understand the differences among themselves.

In the program, Positive Exposure’s Ambassadors share their unique perspectives in life with others who may have questions. These Ambassadors speak about their differences, but they also facilitate more casual conversation: all in an effort to bring awareness to the community at large that our differences in a way make all of us the same.

Pearls has been particularly well-received, according to Rick, “People are just embracing (it) because (Ambassadors) are giving people an opportunity to not look away… (The) Pearls project and all of our other programs are creating opportunities to steady the gaze of the public long enough so they can see beauty in difference and then, of course, to see around that (difference).”

Moving Forward:

From April 5th through April 12th, the Art Director's Club in New York City hosted a Positive Exposure's Spring Gala. That event serves as a model for the organization's future publically. Rick is determined to feature both the FRAME and Pearls projects in future exhibitions, with an eventual eye at integrating each program into American educational programs.

It is important to not lose sight of the reason for the existence of Positive Exposure: the celebration of life and beauty, in all of its forms.

As I personally struggled to define beauty, Rick stated elegantly, “We all have our own ideas of what beauty is. In most of us though, unfortunately, it’s already been defined by somebody else's standard…Beauty is personal. Beauty is something we all should be empowered to see, and we should all be allowed the freedom to embrace our own ideas of what's beautiful.”

Hopefully through Positive Exposure, we can change how we see beauty: just imagine how much we could change.

The Might of the Mights: Parents Overcome Genetics to Save Son

The Might of the Mights: Parents Overcome Genetics to Save Son

Whole-exome sequencing and his parent’s unwavering tenacity finally led Bertrand Might, now almost 7, to a diagnosis—an extremely rare genetic disease (only 18 other diagnosed cases in the world) called N-glycanase deficiency, or NGLY1 for short.

It all began when Bertrand was around 1 month old and his parents Matt and Cristina noticed he was “jiggly” and was seemingly under duress most of the time. By 6 months, he had little to no motor control and Matt and Cristina knew something was very wrong with their son, describing their emotions as fear— visceral fear. “Parents naturally have high hopes for their children,” Matt says and “To have those hopes clawed away in slow motion is devastating.”

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Mission Possible

Mission Possible

The birth of a child is a precious moment filled with hope, love, and anticipation. In the case of Stephen and Sally Damiani of Melbourne, Australia, the birth of their son was no exception.

Massimo “Mo” Damiani was born on July 22, 2008 to proud parents and smiling relatives. Everything was as expected during the first month of his newborn life, eating, sleeping, and filling diapers. That all changed when Stephen found something unusual on Mo’s back.

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Leading the Way: Positive Exposure

At the Rare Genomics Institute, we understand that enacting change cannot happen unilaterally and that solving medical mysteries does not come without teamwork. We stand proudly at the forefront of the utilization of genomic sequencing for the purpose of identifying, treating and hopefully curing rare diseases. At the same time, we realize there are many other people outside of our organization who are just as fundamental to the fight against rare diseases as we are. The team at RG is inspired by those who dedicate their lives to helping others affected by rare disease. Here is one of their stories:

Change how you see; See how you change:

Too often society focuses on diseases rather than the people who have them. Rick Guidotti's mission is to change that. For years, as a fashion photographer for publications like Elle, Harpers Bazaar and GQ, Rick was commissioned to photograph people who fit societal standards of beauty.

Now, as founder and CEO of the non-profit Positive Exposure, Mr. Guidotti aims to alter society’s perception of beauty by photographing those with diseases in the same way that he used to photograph supermodels.

On a cold January afternoon Rick invited me to his non-profit's studio office in New York City. Upon entering the space, it is impossible to look away from the large, vibrant, glossy photos on the walls. Rick's depictions draw you in and force you to live in the moment of each photo. The only thing tearing me away from getting lost in the images was Rick's enthusiasm about them.

Positive Exposure has been featured on NBCNews, in a documentary titled On Beauty (Kartemquin Films) and most recently as part of an exhibit at the Museum of Tolerance in Los Angeles, CA. Rick has spoken at medical schools and has given a TEDtalk as part of his passion project, and it is apparent in speaking with him that Rick has not lost sight of the importance of his work.

Describing the encounter which led him in this unique direction, Rick is candid, “I see beauty everywhere as an artist. Walking down Park Avenue, after a casting for a magazine spread that I was shooting, I saw a kid waiting for a bus with albinism. She didn't have pigmentation in her hair, her skin or her eyes. I was so excited because there was this beautiful kid, yet (she had) never, ever been included in (the) beauty standard.”

A lack of positive imagery on the subject of people with albinism drew Rick further into his work, “I found images of kids up against a wall in doctor’s offices, naked usually, with black bars across their eyes…It was so mind-blowing that this beautiful kid never inspired anything but this negativity. I couldn't find one positive image.”

So rather than find positive images, Rick was moved to create them. Through a partnership with the National Organization for Albinism and Hypopigmentation (NOAH), Rick’s first photos for Positive Exposure were snapped. His work with NOAH ultimately led to a photographic essay which would later be featured in a Life article titled, Redefining Beauty.

His first encounter in a studio with an albino model solidified Rick’s inspiration, “It was really apparent that this kid had zero self-esteem as a direct result of the bullying, the teasing and the abuse she experienced every day in school. She was breathtakingly beautiful, yet she didn't see it. She needed to change the way she saw herself.”

It was in that moment when Rick crafted the motto of Positive Exposure, “Change how you see; see how you change.” This message has now been cultivated through images of people with a wide variety of diseases, not just albinism. Rick has held his lens in front of people with Marfan’s Syndrome, people with a Chromosome 18 Anomaly, those suffering from Potocki Lupski Syndrome, and many, many others.

He photographs mostly children and young adults who suffer from rare diseases, but Rick also photographs those children’s families and friends. Positive Exposure is as much about capturing the joy and happiness of little moments in people’s lives as it is about raising awareness of the many differences among us.

In our next post, we will follow up with Rick Guidotti about the specific programs his organization has implemented. In the interim, please note that the Art Director's Club in New York City will host Positive Exposure's Spring Gala from April 5th through the 12th. The event will include interactive exhibits with a full complement of Rick's photographs as well as community talks. The movie On Beauty will be screened and a book containing much of Rick’s work will be debuted during the exhibition.

Check out Part Two of our conversation with Rick here.

Reading Primary Research

The promise of new treatments and cures excites our imaginations, especially when we’re looking to help a loved one or ourselves. Information on rare diseases is so hard to come by that any news on a potential discovery is welcome. But how accurate is that news? At a time when more information lies at our fingertips than ever before, healthcare professionals, patients, and caregivers have to be able to sift through all the claims to find the facts.

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The Impact Of Rare Disease Research On The Development Of New Medicines

Karla Lant of Rare Genomics Institute recently contributed to Clinical Leader with the article The Impact Of Rare Disease Research On The Development Of New Medicines.

"When we consider rare disease research and apply a cost-benefit analysis, it becomes clear that the benefits of this kind of research far outweigh the costs. Unfortunately, though, too often this kind of assessment stops short; only the immediate benefits of the research are considered. Discovery of possible cures, treatments, or preventative tools for the diseases in question are generally thought to be the only benefits..."

Read the full article >

RG Success Story: Harrison Snow Starts Treatment for Rare Muscular Disease

Since he was born, Harrison Snow had suffered from an undiagnosed muscular disease that led to difficulties speaking, swallowing, and breathing. He spent nearly every day in a state of fatigue and exhaustion. After four years of searching for a diagnosis, his family contacted the Rare Genomics Institute. The patient advocacy team worked with the Snow family to partner with two other institutions, the Scripps Institute and the Mayo Clinic.

Exome sequencing for Harrison was performed at the Scripps Institute. The sequencing led to a 

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