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Groundbreaking at Research and Innovation Campus

Children’s National breaks ground on research and innovation hub

Groundbreaking at Research and Innovation Campus

Pictured, from left to right: Mike Williams, board chair of Children’s National, Mark Batshaw, M.D., chief academic officer and physician-in-chief at Children’s National, Kurt Newman, M.D., president and CEO of Children’s National, Ward 4 Councilman Brandon Todd, Norvell Coots, M.D., president and CEO of Holy Cross Health, and Sarosh Olpadwala, director of real estate, Office of the Deputy Mayor for Planning and Economic Development.

On November 28, 2018, Children’s National Health System marked the official start of construction on its pediatric research and innovation campus with a groundbreaking event. The campus will be distinct nationally as a freestanding research and innovation complex focused on pediatric medicine.

“We had this vision to create a one-of-a-kind pediatric and research innovation campus, which is also a first for Washington, D.C.,” said Kurt Newman, M.D., president and CEO of Children’s National. “If we’re going to help children grow up stronger, then it’s not enough to just provide excellent medical care. We have to work on the research and innovation, which drives discoveries and improves the care for our next generation.”

Children’s National is renovating four existing buildings on a nearly 12-acre portion of the former Walter Reed Army Medical Center campus. This includes a research and innovation building, an outpatient care center, which will include comprehensive primary care services for the community and a conference theatre.

With 160,000 sq. ft. of research and innovation space – and room for expansion – Children’s National will be able to expand its efforts in the high-impact opportunities in pediatric genomic and precision medicine. Developing treatments that can target an individual’s disease more precisely can produce better outcomes with fewer side effects. This focus on personalized research will also improve access at the main hospital by freeing up space for the high-demand critical care services that Children’s National provides.

These efforts will be anchored by three areas of strength at Children’s National: the Center for Genetic Medicine Research, headed by Eric Vilain, M.D., Ph.D., the clinical molecular genetics laboratory directed by Meghan Delaney, DO, MPH, and the Rare Disease Institute headed by Marshall Summar, M.D.

A critical component of the new campus’ success is its proximity to key partners, such as industry, universities, academic medical centers, federal agencies and start-up companies. By working together with these partners, Children’s National hopes to create an ecosystem for nurturing innovation from laboratory discovery all the way through to commercialization.

The new pediatric research and innovation center will also provide an economic benefit of $150 million through its completion date of 2020, providing 350 temporary jobs and 110 permanent positions. The long-term growth, based on an independent study by McKinsey and Company, is exponential and could produce up to $6.2 billion in economic benefit by 2030, based on projected tax revenue and 2,100 permanent jobs, pending future research partnerships.

“Medical advances that effectively treat or prevent disease mean that our children will live fuller, more productive lives,” said Mike Williams, board chair of Children’s National. “That is real economic and societal benefit.”

vitamins

Use of dietary supplements in children with Down syndrome

vitamins

There is a widespread practice of parents giving dietary supplements to children with Down syndrome in the hope of improving intelligence or function, according to new research published in The Journal of Pediatrics. The study, conducted by experts at Children’s National Rare Disease Institute (CNRDI), examined the prevalence, perceived impact, cost and other factors related to dietary supplement use in children with Down syndrome.

The survey finds nearly half of 1,167 respondents – 49 percent – have given or currently give dietary supplements to their children in an effort to improve health and development. On average, children receive three of the more than 150 supplements reported, with nearly 30 percent of users beginning supplementation before the child’s first birthday.

Amy Feldman Lewanda, M.D., a medical geneticist at CNRDI and lead author on the study, notes that the results also reveal a troubling trend – nearly 20 percent of parents who report using dietary supplements do not inform their pediatrician.

“While we know supplements are given by parents in hopes of improving developmental outcomes for children with Down syndrome, many of these supplements contain concerning ingredient profiles that can have adverse effects in infants and children that are too young to communicate their symptoms,” says Dr. Lewanda. “Additionally, these supplements have no proven safety or efficacy, so it’s important for families to consult with their pediatrician or primary care provider to help determine any risk, ill effects or conflicts with existing treatment.”

Reasons for not informing pediatricians about supplement use vary, according to the study results. The most common reason reported was that the doctor has never specifically asked about nutritional supplements. While some parents indicate they do not view supplement use as important medical information to divulge, others feel that their pediatrician may not be knowledgeable about these types of supplements or may dismiss the practice entirely, as some reportedly have done in the past.

Amy Feldman Lewanda

Amy Feldman Lewanda, M.D., a medical geneticist at CNRDI and lead author on the study.

The most popular class of products reported by 25.8 percent of respondents taking supplements are antioxidants, such as curcumin, a byproduct of turmeric, and epigallocatechin-3-gallate (ECGC), the polyphenol compound in green tea. Vitamins, both single and multivitamins, rank second, accounting for 18.9 percent of supplement use. B vitamins were the most popular among single vitamin use. The third most popular supplement category, reported by 15.8 active or previous supplement users, contains proprietary products or combination supplements, such as Nutrivene-D or HAP-CAPS (High Achievement Potential Capsules).

According to Dr. Lewanda, chemical analyses of herbal supplements find some contain anabolic steroids or pharmaceuticals that aren’t listed in the ingredients. Hepatoxicity has been cited among 60 herbs, herbal drugs and herbal supplements. The problem, she notes, is that these products aren’t regulated, like pharmaceuticals are, and similarly, they aren’t thoroughly tested for their safety and efficacy.

The study also notes potential concerns about consuming hyper-concentrated forms of fat-soluble vitamins, including vitamin E and vitamin K, which stay in the body until the vitamins are used. One particular supplement, Speak, provides 5,000 percent of the recommended daily value limits of vitamin E. Fat-soluble vitamins and/or herbal supplements pose unknown health risks – including liver damage.

Among study respondents who actively provide supplements to their children, roughly 87 percent feel they are effective. Those who stopped administering supplements to their children cite lack of efficacy and cost – approximately $90.53 per month on average – as leading reasons for discontinuing use. Approximately 17 percent of respondents note side-effects of supplement use, specifically gastrointestinal disturbance, which was the most common side effect among active and previous supplement users.

“This research gives pediatricians a bit of a wake-up call on what’s trending in the Down syndrome community and the dialogue taking place online, in parent support groups and outside of the doctor’s office,” says Marshall Summar, M.D., director of CNRDI and co-author on the study. “The goal is for pediatricians and parents to work as a team in providing the best care possible for every child, so we hope this research provides physicians greater insight and encourages more open dialogue with patient families about supplement use.  Since many of these supplements have active ingredients, it is vitally important that the primary care provider be aware of them.”

STAT Madness

Voters select Children’s National innovation as runner-up in national competition

STAT Madness

Facial recognition technology developed and tested by researchers with the Sheikh Zayed Institute for Pediatric Surgical Innovation and Rare Disease Institute at Children’s National was the runner-up in this year’s STAT Madness 2018 competition.

Facial recognition technology developed and tested by researchers with the Sheikh Zayed Institute for Pediatric Surgical Innovation and Rare Disease Institute at Children’s National was the runner up in this year’s STAT Madness 2018 competition. Garnering more than 33,000 overall votes in the bracket-style battle that highlights the best biomedical advances, the Children’s National entry survived five rounds and made it to the championship before falling short of East Carolina University’s overall vote count.

Children’s entry demonstrates the potential widespread utility of digital dysmorphology technology to diverse populations with genetic conditions. The tool enables doctors and clinicians to identify children with genetic conditions earlier by simply taking the child’s photo with a smartphone and having it entered into a global database for computer analyses.

The researchers partnered with the National Institutes of Health National Human Genome Research Institute and clinicians from 20 different countries to acquire pictures from local doctors for the study. Using the facial analysis technology, they compared groups of Caucasians, Africans, Asians and Latin Americans with Down syndrome, 22q11.2 deletion syndrome (also called DiGeorge syndrome) and Noonan syndrome to those without it. Based on more than 125 individual facial features, they were able to correctly identify patients with the condition from each ethnic group with more than a 93 percent accuracy rate. Missed diagnoses of genetic conditions can negatively impact quality of life and lead to premature death.

Children’s National also was among four “Editor’s Pick” finalists, entries that span a diverse range of scientific disciplines. Journalists at the digital publication STAT pored through published journal articles for 64 submissions in the single-elimination contest to honor a select group of entries that were the most creative, novel, and most likely to benefit the biomedical field and the general public.

Each year, 1 million children are born worldwide with a genetic condition that requires immediate attention. Because many of these children experience serious medical complications and go on to suffer from intellectual disability, it is critical that doctors accurately diagnose genetic syndromes as early as possible.

“For years, research groups have viewed facial recognition technology as a potent tool to aid genetic diagnosis. Our project is unique because it offers the expertise of a virtual geneticist to general health care providers located anywhere in the world,” says Marius George Linguraru, D.Phil., M.A., M.S., a Sheikh Zayed Institute for Pediatric Surgical Innovation principal investigator who invented the technology. “Right now, children born in under-resourced regions of the U.S. or the world can wait years to receive an accurate diagnosis due to the lack of specialized genetic expertise in that region.”

In addition to providing patient-specific benefits, Marshall Summar, M.D., director of Children’s Rare Disease Institute that partners in the facial recognition technology research, says the project offers a wider societal benefit.

“Right now, parents can endure a seemingly endless odyssey as they struggle to understand why their child is different from peers,” says Dr. Summar. “A timely genetic diagnosis can dispel that uncertainty and replace it with knowledge that can speed patient triage and deliver timely medical interventions.”

Rare Disease Institute director named to Global Commission to End the Diagnostic Odyssey for Children

Marshall Summar, M.D., director of the Children’s National Rare Disease Institute (CNRDI), has been named to the Global Commission to End the Diagnostic Odyssey for Children.

Children’s National Health System has announced that Marshall Summar, M.D., director of the Children’s National Rare Disease Institute (CNRDI), has been named to the Global Commission to End the Diagnostic Odyssey for Children (“the Global Commission”), an alliance dedicated to shortening the multi-year journey that rare disease patients and families endure on the road to diagnosis.

Established in partnership with Shire, Microsoft and EURORDIS, the Global Commission is comprised of a multi-disciplinary team of global experts that have the commitment, creativity and technological expertise required to make a substantial difference in the lives of the millions of children living with a rare disorder.

“Providing more help to children born with rare genetic diseases continues to be one of the core challenges of 21st century medicine,” says Dr. Summar, who notes that patients typically visit up to eight doctors and often receive two or three misdiagnoses along the way. “Even upon diagnosis, patients are hindered by scarce treatment options and approximately a third of patients die before their fifth birthday. We are committed to changing this trend at the CNRDI and are excited to have the opportunity to share our expertise with this alliance on a global stage.”

The Global Commission is focused on developing an actionable roadmap for the field of rare disease that offers recommendations to address core challenges that prevent timely diagnosis for rare disease patients, including improving physicians’ ability to identify and diagnose rare disorders, empowering patients to take an active role in their healthcare and providing high-level policy guidance to help rare disease patients achieve better health outcomes.

Beginning its work in 2018, the Global Commission expects to publish a roadmap that encapsulates the collective findings in early 2019. Over the course of the next year, the alliance will gather input from patients, families and other experts to gain key insights and develop solutions to shorten the diagnostic odyssey.

In the United States, it is estimated that one in 10 people has a rare disease – approximately 80 percent of which are genetically based. Additionally, the National Institutes of Health reports that more than 80 percent are childhood diseases and more than 25 percent of children admitted to pediatric hospitals have a rare disease.

Marshall Summar

Horizon Pharma gifts $3M to establish Horizon Pharma Clinical Care Endowment at Children’s National Rare Disease Institute

Marshall Summar

“Patients and families with rare conditions deserve to be treated in a place with the medical knowledge to provide quick, clear answers and the expert care they need,” says Marshall Summar, M.D., director of the CNRDI.

Children’s National Health System and Horizon Pharma plc are pleased to announce the creation of the Horizon Pharma Clinical Care Endowment, the first clinical team endowment at the Children’s National Rare Disease Institute (CNRDI). The endowment is made possible by a generous six-year, $3 million commitment from Horizon Pharma USA, Inc., a wholly owned subsidiary of Horizon Pharma plc –a biopharmaceutical company dedicated to improving the lives of people living with rare diseases.

“Patients and families with rare conditions deserve to be treated in a place with the medical knowledge to provide quick, clear answers and the expert care they need,” says Marshall Summar, M.D. , director of the CNRDI.  “We are grateful for Horizon and their support of our mission to make the Children’s National Rare Disease Institute that place. This endowment will support a dedicated team that can provide optimal, comprehensive care to more patients and ensure that families have a trusted source for all aspects of their health care.”

The Horizon Pharma Clinical Care Endowment will generate revenue annually, providing stable support for an expert care team at the CNRDI. Each team will be comprised of a clinical geneticist and support team members – such as genetic counselors, nutritionists and social workers – all specializing in the care of children with rare disease.

The long-term support provided by the Horizon Pharma Clinical Care Endowment will give the CNRDI a firm foundation for treating patients earlier, more consistently and over the course of their lifetime. Horizon’s commitment marks the first donor-funded endowment at the CNRDI.

Currently, it is estimated that one in 10 Americans has a rare disease – approximately 80 percent of which are genetically based. Additionally, the NIH reports that more than 80 percent are childhood diseases, and more than 25 percent of children admitted to pediatric hospitals have a rare disease.

The CNRDI is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases. It is the first National Organization for Rare Disorders (NORD) Center of Excellence and aims to provide a medical home for patients and families seeking the most advanced care and expertise for rare genetic conditions that remain largely unknown to the general medical community.

Marshall Summar talks to a colleage in lab

$3M Retrophin gift establishes Rare Disease Network at Children’s National

Marshall Summar talks to a colleage in lab

“This is an exciting first step toward a new era of rare disease care and innovation,” says Marshall Summar, M.D., director of the CNRDI. “We are grateful for this gift from Retrophin that will help us accelerate progress for our patients and families and pursue work that will have a far-reaching impact on both children and adults across the country and around the world thanks to the support of Retrophin.”

Children’s National Health System and Retrophin, Inc. have announced the creation of the Retrophin Rare Disease Network at Children’s National. Retrophin, a biopharmaceutical company specializing in identifying, developing and delivering life-changing therapies to people living with rare diseases, has committed $3 million over the next six years to support the work of the Children’s National Rare Disease Institute (CNRDI). Retrophin’s commitment marks the first corporate gift to CNRDI.

“One of the chief challenges of 21st century pediatric medicine is our continued inability to provide more help to those born with rare genetic diseases,” says Marshall Summar, M.D., director of the CNRDI. “This is an exciting first step toward a new era of rare disease care and innovation. We are grateful for this gift from Retrophin that will help us accelerate progress for our patients and families and pursue work that will have a far-reaching impact on both children and adults across the country and around the world thanks to the support of Retrophin.”

As a dedicated source of funding, the Retrophin Rare Disease Network will advance the CNRDI’s efforts to create a global “hub and spoke” model for disseminating and streamlining patient access to optimal care methods and among national and international peer institutions. The network will enhance the field of rare disease medicine by standardizing care models and establishing world-wide best practices in diagnosis and treatment.

The Retrophin Rare Disease Network will also provide funding for new dedicated positions at the CNRDI and build on the Institute’s existing digital and telemedicine programs, to extend the reach of its researchers and caregivers in areas where there is currently limited care available for children and adults living with rare diseases.

CNRDI is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases. The first National Organization for Rare Disorders (NORD) Center of Excellence, it aims to provide a medical home for patients and families seeking the most advanced care and expertise for rare genetic conditions that remain largely unknown to the general medical community.

Facial analysis technology helps diagnose rare genetic disease

Facial Analysis Technology

A new study uses facial analysis technology developed at Children’s National to diagnose 22q1.2 deletion syndrome, also known as DiGeorge syndrome.

According to a new study led by the National Human Genome Research Institute (NHGRI), facial analysis technology can assist clinicians in making accurate diagnosis of 22q1.2 deletion syndrome, also known as DiGeorge syndrome. Using objective facial analysis software, developed by researchers from the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National, the study compared the most relevant facial features characteristic of DiGeorge syndrome in diverse populations. Based on a selection of 126 individual facial features, the researchers were able to correctly diagnose patients with the disease from different ethnic groups with 96.6 percent or higher accuracy.

“The results of the study demonstrated that the identification of rare diseases benefits from adapting to ethnic and geographic populations,” said Marius George Linguraru, D.Phil., developer of the facial analysis technology and an investigator in the study from Children’s National.

Linguraru and his team are also working on a simple tool that will enable doctors in clinics without state-of-the-art genetic facilities to take photos of their patients on a smartphone and receive instant results.

Doctor holding preemie's hand

Children’s National creates first-of-its-kind Rare Disease Institute

Children’s National Health System has announced the creation of the Children’s National Rare Disease Institute (CNRDI), a first-of-its-kind clinical research center focused exclusively on the care and treatment of children and adults with rare genetic disorders. Designated by the National Organization for Rare Disorders (NORD) as the first Center of Excellence for Clinical Care for Rare Diseases, the CNRDI will focus on developing care standards for patients, advancing research and developing new therapies to better treat rare diseases. The institute will be led by Marshall Summar, M.D., Chief of Genetics and Metabolism at Children’s National, and will collaborate with the NORD natural history/registry program, which was developed with input from the U.S. Food and Drug Administration and the National Institutes of Health to advance monitoring databases for patient outcomes and disease.

Doctors working together to find treatments for autoimmune encephalitis

Children’s and Regeneron partner in exome sequencing study

Children’s National, in partnership with the Regeneron Genetics Center (RGC, a subsidiary of Regeneron Pharmaceuticals, Inc.), has announced the launch of a major three-year research study that will examine the links between undiagnosed disease and an individual’s genetic profile.

The program, directed by Children’s National Geneticist Carlos Ferreira Lopez, M.D., and coordinated by Genetic Counselor Lindsay Kehoe, hopes to include as many as 3,000 patients in its initial year and even greater numbers in the following two years.

During the course of the study, RGC will conduct whole exome sequencing (WES) to examine the entire protein-coding DNA in a patient’s genome. Children’s National geneticists will analyze and screen for certain findings that are known to be potentially causative or diagnostic of disease. Children’s National scientists and providers will confirm preliminary research findings in a lab certified for Clinical Laboratory Improvement Amendments (CLIA), per federal standards for clinical testing, and refer any confirmatory CLIA-certified cases to appropriate clinicians at Children’s National for further care.

According to Marshall Summar, M.D., Chief of Genetics and Metabolism at Children’s National, the WES study could finally provide patients and their families with the medical answers they have been looking for, allowing for treatment appropriate to their specific genetic condition.

Because pediatric diseases can often elude diagnosis, they can pose a number of detrimental effects to patients and their families, including treatment delays, multiple time- and cost-intensive tests, and stress from lingering uncertainty regarding the illness. With this genomic data, Regeneron will be able to utilize findings to continue its efforts to improve drug development.

Since its inception in 2014, the RGC has strategically partnered with leading medical institutions to utilize human genetics data to speed the development and discovery of new and improved therapies for patients in need.

Rheumatic heart disease is a family affair

Parasternal long axis echocardiographic still frames in early systole in black and white and color Doppler of RHD-positive index case, sibling, and mother.

Parasternal long axis echocardiographic still frames in early systole in black and white and color Doppler of RHD-positive index case, sibling, and mother.

Siblings of children in Northern Uganda with latent rheumatic heart disease (RHD) are more likely to have the disease and would benefit from targeted echocardiographic screening to detect RHD before it causes permanent damage to their heart valves, according to an unprecedented family screening study.

RHD results from a cascade of health conditions that begin with untreated group A β-hemolytic streptococcal infection. In 3 percent to 6 percent of cases, repeat strep throat can lead to acute rheumatic fever. Almost half of children who experience acute rheumatic fever later develop chronic scarring of the heart valves, RHD.  RHD affects around 33 million people and occurs most commonly in low-resource environments, thriving in conditions of poverty, poor sanitation, and limited primary healthcare. Treating streptococcal infections can prevent a large percentage of children from developing RHD, but these infections are difficult to diagnose in low-resource settings.

Right now, kids with RHD often are not identified until they reach adolescence, when the damage to their heart valves is advanced and severe cardiac symptoms or complications develop. In such countries, cardiac specialists are rare, and intervention at an advanced stage is typically too expensive or unavailable.  Echocardiographic screening can “see” RHD before symptoms develop and allow for earlier, more affordable, and more practical intervention. A team led by Children’s National Health System clinicians and researchers conducted the first-ever family echocardiographic screening study over three months to help identify optimal strategies to pinpoint the families in Northern Uganda at highest RHD risk.

“Echocardiographic screening has the potential to be a powerful public health strategy to lower the burden of RHD around the world,” says Andrea Beaton, M.D., a cardiologist at Children’s National and the study’s senior author. “Finding the 1 percent of vulnerable children who live in regions where RHD is endemic is a challenge. But detecting these silent illnesses would open the possibility of providing these children monthly penicillin shots – which cost pennies and prevent recurrent streptococcal infections, rheumatic fever, and further valve damage.”

The research team leveraged existing school-based screening data in Northern Uganda’s Gulu District and recruited 60 RHD-positive children and matched them with 67 kids attending the same schools who were similar in age and gender but did not have RHD. After screening more than 1,000 parents, guardians, and first-degree family members, they found that children with RHD were 4.5 times as likely to have a sibling who definitely had RHD.

“Definite RHD was more likely to be found in mothers, with 9.3 percent (10/107 screened) having echocardiographic evidence of definite RHD, compared to fathers 0 percent (0/48 screened, p = 0.03), and siblings 3.3 percent (10/300 screened, p = 0.02),” writes lead author Twalib Aliku, School of Medicine, Gulu University, and colleagues. “There was no increased familial, or sibling risk of RHD in the first-degree relatives of RHD-positive cases (borderline & definite RHD) versus RHD-negative cases. However, RHD-positive cases had a 4.5 times greater chance of having a sibling with definite RHD (p = 0.05) and this risk increased to 5.6 times greater chance if you limited the comparison to RHD-positive cases with definite RHD (n = 30, p = 0.03.”

The paper, “Targeted Echocardiographic Screening for Latent Rheumatic Heart Disease in Northern Uganda,” was published recently by PLoS and is among a dozen papers published this year about the group’s work in Africa, done under the aegis of the Children’s Research Institute global health initiative.

The World Health Organization previously has prioritized screening household contacts when an index case of tuberculosis (TB) is identified, the authors note. Like TB, RHD has a strong environmental component in that family members are exposed to the same poverty, overcrowding, and circulating streptococcal strains. In a country where the median age is 15.5, it is not practical to screen youths without a detailed plan, Dr. Beaton says. Additional work would need to be done to determine which tasks to shift to nurses, who are more plentiful, and how to best leverage portable, hand-held screening machines.

“Optimal implementation strategies, the who, when, in what setting, and how often to screen, have received little study to date, yet these details are critical to developing cost-effective and sustainable screening programs,” Aliku and co-authors write. “Our study suggests that siblings of children identified with latent RHD are a high-risk group, and should be prioritized for screening.”

Related resources:  Research at a Glance

What rare diseases teach us about common ones

Think of the urea cycle as a river. A normal river flows to where it empties, similar to the process the body uses to rid itself of harmful ammonia via the urea cycle.

Think of the urea cycle as a river. A normal river flows to where it empties, similar to the process the body uses to rid itself of harmful ammonia via the urea cycle.

I recently presented at Spotlight Health 2016, the health-focused portion of the Aspen Ideas Festival, about how studying and treating rare diseases can inform innovative treatment approaches for more common medical conditions. Our Division of Genetics and Metabolism sees more than 8,000 patients a year with rare conditions, such as urea cycle disorders and Down syndrome. Through decades of analyzing these diseases and treating children who have them, we have developed therapies that apply not only for the small numbers of patients who have rare diseases but also for more common conditions caused by environmental factors leading to a similar physical response.

For instance, we’ve demonstrated that the stress of cardiopulmonary bypass during surgery to correct congenital heart disease creates conditions similar to a critical blockage in the urea cycle, specifically the biochemical creation of citrulline, a key biochemical.

When that cycle is unable to flow, or continuing the river analogy, becomes dammed up due to a genetic defect, as in urea cycle disorders, or an environmental factor, such as the extreme stress of cardiopulmonary bypass, the body is unable to make enough citrulline which is critical for maintaining normal blood pressure. We’ve shown that replacing that citrulline can correct a lot of these problems whether caused by rare genetics or the cardiac OR.

Applying rare disease treatment approaches to more common diseases is not limited to urea cycle disorders. Work by my colleague Carlos Ferreira, MD, demonstrates how a rare genetic calcifying arterial disease (generalized arterial calcification in infancy, GACI) causes the same calcium buildup and blockages as chronic kidney disease. Dr. Ferreira hypothesizes that life-saving drugs developed for use in GACI could help patients with long-term kidney disease by averting organ damage and eventual failure caused by the buildup of calcium crystals.

The more we learn about these rare diseases, the more we come to appreciate the tremendous implications our findings have for patients with the rare disorders and potentially hundreds of thousands of others.

About the Author

Marshall Summar, MD
Research interests: The interactions between common genetic variations and the environment.