Center for Pediatric Genomic Medicine

Kansas City, MO, United States

Center for Pediatric Genomic Medicine

Kansas City, MO, United States

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News Article | May 8, 2017
Site: globenewswire.com

OVERLAND PARK, Kan., May 08, 2017 (GLOBE NEWSWIRE) -- Black & Veatch today hosted the 21st Annual Charity Golf Tournament in support of Children’s Mercy. Proceeds from the tournament and company giving totaling $350,000 were donated to Children’s Mercy. This year’s event is helping to fulfill a five-year pledge of $2.1 million made in 2015 to help expand services at the Center for Pediatric Genomic Medicine to include childhood cancers. The annual golf event and company donations have now surpassed $3.4 million since its inception. The Center is the first of its kind and dedicated to be the leading global referral center for the diagnosis, molecular understanding and treatment of inherited childhood diseases. Through the support of the Black & Veatch Foundation and other organizations, hundreds of families affected by rare inherited diseases are referred to and treated by Children's Mercy each year. “Thanks to generous support from Black & Veatch, Children’s Mercy is making great progress toward building a comprehensive center for pediatric genomics,” says Dr. Erin Guest, Director, Cancer Genomics Program and Oncology Biorepository. “Our ability to get a research program of this caliber off the ground and chart a better course for children with cancer this quickly would not have been possible without philanthropic support from community leaders like Black & Veatch.” The 21st Annual Charity Golf Tournament was at the Shadow Glen Golf Club in Olathe, Kansas. All proceeds from the event go directly to Children’s Mercy. “Black & Veatch’s five-year pledge of $2.1 million to support the Children’s Mercy Center for Pediatric Genomic Medicine is helping the Center expand its focus on oncology treatment for patients including those with rare and challenging diseases,” said Steve Edwards, Chairman and CEO of Black & Veatch. “Through this funding, the Center’s talented professionals are able to provide life-saving care and conduct important research to improve patient outcomes across the region. We are proud of our long history with the Center and look forward to the growth of this first-of-its-kind facility.” Tournament fundraising in the past has also supported the construction and renovations for Children’s Mercy East in Eastern Jackson County and Children’s Mercy Broadway. Support has also been provided to the CARE Clinic, magnetic resonance imaging (MRI) equipment, robotic surgery, neonatal intensive care nursery, emergency department and urgent care centers. About Children’s Mercy Founded in 1897, Children’s Mercy is one of the nation’s top pediatric medical centers. With not-for-profit hospitals in Missouri and Kansas, and numerous specialty clinics in both states, Children’s Mercy provides the highest level of care for children from birth through the age of 21. U.S. News & World Report has repeatedly ranked Children’s Mercy as one of “America's Best Children's Hospitals.” For the fourth time in a row, Children’s Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. Its faculty of more than 700 pediatric subspecialists and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists. Thanks to generous philanthropic and volunteer support, Children’s Mercy provides medical care to every child who passes through its doors, regardless of a family’s ability to pay. For more information about Children’s Mercy and its research, visit childrensmercy.org. For breaking news and videos, follow us on Twitter, YouTube and Facebook. About Black & Veatch Black & Veatch is an employee-owned, global leader in building Critical Human Infrastructure in Energy, Water, Telecommunications and Government Services. Since 1915, we have helped our clients improve the lives of people in over 100 countries through consulting, engineering, construction, operations and program management. Our revenues in 2016 were US$3.2 billion. Follow us on www.bv.com and in social media.


News Article | May 8, 2017
Site: globenewswire.com

OVERLAND PARK, Kan., May 08, 2017 (GLOBE NEWSWIRE) -- Black & Veatch today hosted the 21st Annual Charity Golf Tournament in support of Children’s Mercy. Proceeds from the tournament and company giving totaling $350,000 were donated to Children’s Mercy. This year’s event is helping to fulfill a five-year pledge of $2.1 million made in 2015 to help expand services at the Center for Pediatric Genomic Medicine to include childhood cancers. The annual golf event and company donations have now surpassed $3.4 million since its inception. The Center is the first of its kind and dedicated to be the leading global referral center for the diagnosis, molecular understanding and treatment of inherited childhood diseases. Through the support of the Black & Veatch Foundation and other organizations, hundreds of families affected by rare inherited diseases are referred to and treated by Children's Mercy each year. “Thanks to generous support from Black & Veatch, Children’s Mercy is making great progress toward building a comprehensive center for pediatric genomics,” says Dr. Erin Guest, Director, Cancer Genomics Program and Oncology Biorepository. “Our ability to get a research program of this caliber off the ground and chart a better course for children with cancer this quickly would not have been possible without philanthropic support from community leaders like Black & Veatch.” The 21st Annual Charity Golf Tournament was at the Shadow Glen Golf Club in Olathe, Kansas. All proceeds from the event go directly to Children’s Mercy. “Black & Veatch’s five-year pledge of $2.1 million to support the Children’s Mercy Center for Pediatric Genomic Medicine is helping the Center expand its focus on oncology treatment for patients including those with rare and challenging diseases,” said Steve Edwards, Chairman and CEO of Black & Veatch. “Through this funding, the Center’s talented professionals are able to provide life-saving care and conduct important research to improve patient outcomes across the region. We are proud of our long history with the Center and look forward to the growth of this first-of-its-kind facility.” Tournament fundraising in the past has also supported the construction and renovations for Children’s Mercy East in Eastern Jackson County and Children’s Mercy Broadway. Support has also been provided to the CARE Clinic, magnetic resonance imaging (MRI) equipment, robotic surgery, neonatal intensive care nursery, emergency department and urgent care centers. About Children’s Mercy Founded in 1897, Children’s Mercy is one of the nation’s top pediatric medical centers. With not-for-profit hospitals in Missouri and Kansas, and numerous specialty clinics in both states, Children’s Mercy provides the highest level of care for children from birth through the age of 21. U.S. News & World Report has repeatedly ranked Children’s Mercy as one of “America's Best Children's Hospitals.” For the fourth time in a row, Children’s Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. Its faculty of more than 700 pediatric subspecialists and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists. Thanks to generous philanthropic and volunteer support, Children’s Mercy provides medical care to every child who passes through its doors, regardless of a family’s ability to pay. For more information about Children’s Mercy and its research, visit childrensmercy.org. For breaking news and videos, follow us on Twitter, YouTube and Facebook. About Black & Veatch Black & Veatch is an employee-owned, global leader in building Critical Human Infrastructure in Energy, Water, Telecommunications and Government Services. Since 1915, we have helped our clients improve the lives of people in over 100 countries through consulting, engineering, construction, operations and program management. Our revenues in 2016 were US$3.2 billion. Follow us on www.bv.com and in social media.


News Article | May 8, 2017
Site: globenewswire.com

OVERLAND PARK, Kan., May 08, 2017 (GLOBE NEWSWIRE) -- Black & Veatch today hosted the 21st Annual Charity Golf Tournament in support of Children’s Mercy. Proceeds from the tournament and company giving totaling $350,000 were donated to Children’s Mercy. This year’s event is helping to fulfill a five-year pledge of $2.1 million made in 2015 to help expand services at the Center for Pediatric Genomic Medicine to include childhood cancers. The annual golf event and company donations have now surpassed $3.4 million since its inception. The Center is the first of its kind and dedicated to be the leading global referral center for the diagnosis, molecular understanding and treatment of inherited childhood diseases. Through the support of the Black & Veatch Foundation and other organizations, hundreds of families affected by rare inherited diseases are referred to and treated by Children's Mercy each year. “Thanks to generous support from Black & Veatch, Children’s Mercy is making great progress toward building a comprehensive center for pediatric genomics,” says Dr. Erin Guest, Director, Cancer Genomics Program and Oncology Biorepository. “Our ability to get a research program of this caliber off the ground and chart a better course for children with cancer this quickly would not have been possible without philanthropic support from community leaders like Black & Veatch.” The 21st Annual Charity Golf Tournament was at the Shadow Glen Golf Club in Olathe, Kansas. All proceeds from the event go directly to Children’s Mercy. “Black & Veatch’s five-year pledge of $2.1 million to support the Children’s Mercy Center for Pediatric Genomic Medicine is helping the Center expand its focus on oncology treatment for patients including those with rare and challenging diseases,” said Steve Edwards, Chairman and CEO of Black & Veatch. “Through this funding, the Center’s talented professionals are able to provide life-saving care and conduct important research to improve patient outcomes across the region. We are proud of our long history with the Center and look forward to the growth of this first-of-its-kind facility.” Tournament fundraising in the past has also supported the construction and renovations for Children’s Mercy East in Eastern Jackson County and Children’s Mercy Broadway. Support has also been provided to the CARE Clinic, magnetic resonance imaging (MRI) equipment, robotic surgery, neonatal intensive care nursery, emergency department and urgent care centers. About Children’s Mercy Founded in 1897, Children’s Mercy is one of the nation’s top pediatric medical centers. With not-for-profit hospitals in Missouri and Kansas, and numerous specialty clinics in both states, Children’s Mercy provides the highest level of care for children from birth through the age of 21. U.S. News & World Report has repeatedly ranked Children’s Mercy as one of “America's Best Children's Hospitals.” For the fourth time in a row, Children’s Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. Its faculty of more than 700 pediatric subspecialists and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists. Thanks to generous philanthropic and volunteer support, Children’s Mercy provides medical care to every child who passes through its doors, regardless of a family’s ability to pay. For more information about Children’s Mercy and its research, visit childrensmercy.org. For breaking news and videos, follow us on Twitter, YouTube and Facebook. About Black & Veatch Black & Veatch is an employee-owned, global leader in building Critical Human Infrastructure in Energy, Water, Telecommunications and Government Services. Since 1915, we have helped our clients improve the lives of people in over 100 countries through consulting, engineering, construction, operations and program management. Our revenues in 2016 were US$3.2 billion. Follow us on www.bv.com and in social media.


News Article | May 8, 2017
Site: globenewswire.com

OVERLAND PARK, Kan., May 08, 2017 (GLOBE NEWSWIRE) -- Black & Veatch today hosted the 21st Annual Charity Golf Tournament in support of Children’s Mercy. Proceeds from the tournament and company giving totaling $350,000 were donated to Children’s Mercy. This year’s event is helping to fulfill a five-year pledge of $2.1 million made in 2015 to help expand services at the Center for Pediatric Genomic Medicine to include childhood cancers. The annual golf event and company donations have now surpassed $3.4 million since its inception. The Center is the first of its kind and dedicated to be the leading global referral center for the diagnosis, molecular understanding and treatment of inherited childhood diseases. Through the support of the Black & Veatch Foundation and other organizations, hundreds of families affected by rare inherited diseases are referred to and treated by Children's Mercy each year. “Thanks to generous support from Black & Veatch, Children’s Mercy is making great progress toward building a comprehensive center for pediatric genomics,” says Dr. Erin Guest, Director, Cancer Genomics Program and Oncology Biorepository. “Our ability to get a research program of this caliber off the ground and chart a better course for children with cancer this quickly would not have been possible without philanthropic support from community leaders like Black & Veatch.” The 21st Annual Charity Golf Tournament was at the Shadow Glen Golf Club in Olathe, Kansas. All proceeds from the event go directly to Children’s Mercy. “Black & Veatch’s five-year pledge of $2.1 million to support the Children’s Mercy Center for Pediatric Genomic Medicine is helping the Center expand its focus on oncology treatment for patients including those with rare and challenging diseases,” said Steve Edwards, Chairman and CEO of Black & Veatch. “Through this funding, the Center’s talented professionals are able to provide life-saving care and conduct important research to improve patient outcomes across the region. We are proud of our long history with the Center and look forward to the growth of this first-of-its-kind facility.” Tournament fundraising in the past has also supported the construction and renovations for Children’s Mercy East in Eastern Jackson County and Children’s Mercy Broadway. Support has also been provided to the CARE Clinic, magnetic resonance imaging (MRI) equipment, robotic surgery, neonatal intensive care nursery, emergency department and urgent care centers. About Children’s Mercy Founded in 1897, Children’s Mercy is one of the nation’s top pediatric medical centers. With not-for-profit hospitals in Missouri and Kansas, and numerous specialty clinics in both states, Children’s Mercy provides the highest level of care for children from birth through the age of 21. U.S. News & World Report has repeatedly ranked Children’s Mercy as one of “America's Best Children's Hospitals.” For the fourth time in a row, Children’s Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. Its faculty of more than 700 pediatric subspecialists and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists. Thanks to generous philanthropic and volunteer support, Children’s Mercy provides medical care to every child who passes through its doors, regardless of a family’s ability to pay. For more information about Children’s Mercy and its research, visit childrensmercy.org. For breaking news and videos, follow us on Twitter, YouTube and Facebook. About Black & Veatch Black & Veatch is an employee-owned, global leader in building Critical Human Infrastructure in Energy, Water, Telecommunications and Government Services. Since 1915, we have helped our clients improve the lives of people in over 100 countries through consulting, engineering, construction, operations and program management. Our revenues in 2016 were US$3.2 billion. Follow us on www.bv.com and in social media.


PubMed | Center for Pediatric Genomic Medicine, Rare Disease Unit, Kaiser Permanente, Childrens Hospital of Wisconsin and 8 more.
Type: Clinical Trial | Journal: Molecular genetics and metabolism | Year: 2016

Gaucher Disease type 1 (GD1) often manifests in childhood. Early treatment with enzyme replacement therapy (ERT) may prevent disease complications. We report the assessment of velaglucerase alfa ERT in pediatric GD1 patients who participated in a long-term extension study (HGT-GCB-044, ClinicalTrials.gov Identifier NCT00635427).Safety and efficacy were evaluated in pediatric patients receiving velaglucerase alfa 30-60U/kg by intravenous infusion every other week. In addition to key hematological and visceral efficacy assessments, exploratory assessments conducted specifically in pediatric patients included evaluation of height, bone age, bone marrow burden, and Tanner stage of puberty.The study included 24 pediatric patients. Fifteen patients were nave to ERT on entry into the preceding trials TKT032 (12-month trial) or HGT-GCB-039 (9-month trial): in the preceding trials, ten of these 15 patients received velaglucerase alfa and five patients received imiglucerase ERT. Nine patients in the study were previously treated with imiglucerase for >30months and were switched to velaglucerase alfa in the preceding trial TKT034 (12-month trial). Cumulative ERT exposure in the clinical studies ranged from 2.0 to 5.8years. Three serious adverse events, including a fatal convulsion, were reported; none were deemed related to velaglucerase alfa. One patient tested positive for anti-velaglucerase alfa antibodies. An efficacy assessment at 24months showed that velaglucerase alfa had positive effects on primary hematological and visceral parameters in treatment-nave patients, which were maintained with longer-term treatment. Disease parameters were stable in patients switched from long-term imiglucerase ERT. Exploratory results may suggest benefits of early treatment to enable normal growth in pediatric patients.The safety profile and clinical response seen in pediatric patients are consistent with results reported in adults.


Kamisoglu K.,Rutgers University | Haimovich B.,Rutgers Robert Wood Johnson Medical School | Calvano S.E.,Rutgers Robert Wood Johnson Medical School | Coyle S.M.,Rutgers Robert Wood Johnson Medical School | And 5 more authors.
Critical Care | Year: 2015

Introduction: Two recent, independent, studies conducted novel metabolomics analyses relevant to human sepsis progression; one was a human model of endotoxin (lipopolysaccharide (LPS)) challenge (experimental endotoxemia) and the other was community acquired pneumonia and sepsis outcome diagnostic study (CAPSOD). The purpose of the present study was to assess the concordance of metabolic responses to LPS and community-acquired sepsis. Methods: We tested the hypothesis that the patterns of metabolic response elicited by endotoxin would agree with those in clinical sepsis. Alterations in the plasma metabolome of the subjects challenged with LPS were compared with those of sepsis patients who had been stratified into two groups: sepsis patients with confirmed infection and non-infected patients who exhibited systemic inflammatory response syndrome (SIRS) criteria. Common metabolites between endotoxemia and both these groups were individually identified, together with their direction of change and functional classifications. Results: Response to endotoxemia at the metabolome level elicited characteristics that agree well with those observed in sepsis patients despite the high degree of variability in the response of these patients. Moreover, some distinct features of SIRS have been identified. Upon stratification of sepsis patients based on 28-day survival, the direction of change in 21 of 23 metabolites was the same in endotoxemia and sepsis survival groups. Conclusions: The observed concordance in plasma metabolomes of LPS-treated subjects and sepsis survivors strengthens the relevance of endotoxemia to clinical research as a physiological model of community-acquired sepsis, and gives valuable insights into the metabolic changes that constitute a homeostatic response. Furthermore, recapitulation of metabolic differences between sepsis non-survivors and survivors in LPS-treated subjects can enable further research on the development and assessment of rational clinical therapies to prevent sepsis mortality. Compared with earlier studies which focused exclusively on comparing transcriptional dynamics, the distinct metabolomic responses to systemic inflammation with or without confirmed infection, suggest that the metabolome is much better at differentiating these pathophysiologies. Finally, the metabolic changes in the recovering patients shift towards the LPS-induced response pattern strengthening the notion that the metabolic, as well as transcriptional responses, characteristic to the endotoxemia model represent necessary and "healthy" responses to infectious stimuli. © 2015 Kamisoglu et al.


Makikallio K.,University of Oulu | Kaukola T.,University of Oulu | Tuimala J.,Finnish Red Cross Blood Service | Kingsmore S.F.,Center for Pediatric Genomic Medicine | And 2 more authors.
Cytokine | Year: 2012

Background: Cytokines and growth factors synthesized by placental trophoblasts are suggested to induce endothelial and vascular smooth muscle cell apoptosis and affect angiogenesis. Objective: To investigate cord blood and placental immunoproteins in order to find new clues on pathogenetic factors of preterm preeclampsia. Methods: Cord blood samples were collected on 163 consecutive preterm deliveries prior to 32 gestational weeks. Placental function, clinical risk factors and 107 umbilical artery immunoproteins were analyzed. Classification and regression trees analysis was used to detect associations between the immunoproteins, clinical parameters and preterm preeclampsia. Placental expression of the immunoproteins and their receptors were subsequently investigated. Results: Preeclampsia complicated 34% of the pregnancies in this preterm cohort. Umbilical artery CCL16, CCL24, and CCL23 were associated with preeclampsia, CCL16 showing the strongest relationship with an OR (95% CI) of 24.5 (5.4-112.0). High umbilical artery CCL16 was also characteristic to fetuses with severe growth restriction (<3rd percentile). CCL16, CCL24 and their receptors, CCR1 and CCR3 were expressed in preeclamptic placentas. Conclusions: High umbilical artery CCL16 is prominently detected in preterm preeclamptic pregnancies with severe growth restriction. A link to compensatory proangiogenic mechanisms has to be considered. © 2012 Elsevier Ltd.


Soden S.E.,Center for Pediatric Genomic Medicine | Soden S.E.,University of Missouri - Kansas City | Saunders C.J.,Center for Pediatric Genomic Medicine | Saunders C.J.,University of Missouri - Kansas City | And 37 more authors.
Science Translational Medicine | Year: 2014

Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) can enable diagnosis of NDD, but their clinical and cost-effectiveness are unknown. One hundred families with 119 children affected by NDD received diagnostic WGS and/or WES of parent-child trios, wherein the sequencing approach was guided by acuity of illness. Forty-five percent received molecular diagnoses. An accelerated sequencing modality, rapid WGS, yielded diagnoses in 73% of families with acutely ill children (11 of 15). Forty percent of families with children with nonacute NDD, followed in ambulatory care clinics (34 of 85), received diagnoses: 33 by WES and 1 by staged WES then WGS. The cost of prior negative tests in the nonacute patients was $19,100 per family, suggesting sequencing to be cost-effective at up to $7640 per family. A change in clinical care or impression of the pathophysiology was reported in 49% of newly diagnosed families. If WES or WGS had been performed at symptom onset, genomic diagnoses may have been made 77 months earlier than occurred in this study. It is suggested that initial diagnostic evaluation of children with NDD should include trio WGS or WES, with extension of accelerated sequencing modalities to high-acuity patients. © 2014, American Association for the Advancement of Science. All rights reserved.


Smith L.D.,University of Missouri - Kansas City | Smith L.D.,Center for Pediatric Genomic Medicine | Willig L.K.,University of Missouri - Kansas City | Willig L.K.,Center for Pediatric Genomic Medicine | And 2 more authors.
Cold Spring Harbor Perspectives in Medicine | Year: 2016

As the ability to identify the contribution of genetic background to human disease continues to advance, there is no discipline of medicine in which this may have a larger impact than in the care of the ill neonate. Newborns with congenital malformations, syndromic conditions, and inherited disorders often undergo an extensive, expensive, and long diagnostic process, often without a final diagnosis resulting in significant health care, societal, and personal costs. Although ethical concerns have been raised about the use of whole-genome sequencing in medical practice, its role in the diagnosis of rare disorders in ill neonates in tertiary care neonatal intensive care units has the potential to augment or modify the care of this vulnerable population of patients. © 2016 Cold Spring Harbor Laboratory Press; all rights reserved.


Thiffault I.,Center for Pediatric Genomic Medicine | Thiffault I.,University of Missouri - Kansas City | Bernard G.,McGill University
European Journal of Medical Genetics | Year: 2016

We comment on the recent publication by Khalifa and Naffa who are reporting a young girl with variants in both WDR45 and POLR3A, which they state contribute to her clinical manifestations. We are arguing in this letter that the clinical, MRI, and genetics findings are not compatible with 4H leukodystrophy and that this patient is not affected by this condition. © 2016 Elsevier Masson SAS

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