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Yuan Zhu, Ph.D., receives Outstanding Scientist Award

August 6, 2021

Yuan Zhu

The George Washington University (GW) Cancer Center recently announced the selection of the 2021 GW Cancer Center Awards, recognizing excellence in research, mentorship and early career contributions.

The GW Cancer Center Outstanding Scientist Award was presented to Yuan Zhu, Ph.D., professor of pediatrics at the GW School of Medicine and Health Sciences (SMHS) and Children’s National Hospital. The award is presented to faculty members who make a noteworthy contribution in the areas of basic science, clinical science, translational science or population science.

In his nomination, Dr. Zhu was cited for his contributions to the understanding of the mechanisms underlying the development of tumors and altered brain development arising in the setting of the inherited condition neurofibromatosis type 1 (NF1). “Throughout his career, Dr. Zhu has had a remarkable consistency of focus in his scholarly work, where he has sought to advance new molecular and mechanistic insights to understand the biological basis of NF1 and the cancers arising in individuals affected by this genetic disease.”

You can find a full list of award winners here.

Research partnerships and capacity building in the time of COVID-19

November 24, 2020

global connectedness concept illustration

“COVID infection anywhere in the world is COVID infection everywhere in the world,” said John Nkengasong, M.Sc., Ph.D., director of the Africa Centers for Disease Control (Africa CDC), during his remarks on the importance of shared science, innovation and diplomacy. Leading experts in global health met virtually on November 13, 2020, to discuss updates in the COVID-19 crisis and lessons learned in Africa. Children’s National Hospital, along with the George Washington University (GW) Institute for Africa Studies and the CNRS-EpiDaPo Lab, sponsored the half-day conference that captured the interest of international attendees committed to examining how best to expand strong and enduring partnerships between U.S. and African scientists, health professionals and research institutes to meet global challenges.

Trust, transparency and communication were common themes of expert panelists that included Elizabeth Bukusi, Ph.D., M.P.H., Kenya Medical Research Institute; Maryam DeLoffre, Ph.D., GW Humanitarian Action Initiative; Peter Kilmarx, M.D., National Institutes of Health (NIH) Fogarty International Center; Enock Motavu, Ph.D., Makerere University in Uganda; Jennifer Troyer, Ph.D., Human Health and Heredity in Africa Program (H3Africa) at NIH; Désiré Tshala-Katumbay, M.D., Ph.D., National Institute of Biomedical Research in Kinshasa; Eric Vilain, M.D., Ph.D., Center for Genetic Medicine Research at Children’s National, with Institute for African Studies Director Jennifer Cooke, and Jonathan LoTempio Jr and D’Andre Spencer of Children’s National as moderators and co-conveners. Read more about the panelists.

The keynote speaker, Nkengasong, updated the group on the massive efforts in bending the COVID-19 disease curve on the African continent which at present has two million cases and 46,000 deaths. This is fewer than many other regions, and Nkengasong attributes this in part to health systems strengthening and capacity building that already occurred with past pandemics like Ebola. He stressed the importance of focusing on the “4 Ps” — population, pathogen, politics and policy — in fighting the pandemic, and the need to ensure that citizens trust their leaders and the public health measures they advance. New endeavors by the Africa CDC include the Pathogen Genomic Initiative, which will help inform research and responses to COVID-19 and other emergent disease threats, and the African COVID-19 Vaccine Development and Access Strategy, which aims to ensure widespread access, delivery and uptake of effective vaccines across Africa. Africa CDC is surging to hotspots as lockdowns ease or shift, and is empowering universities to invest in proactive and, which has helped with the active response success. “Rising tides raise all boats in the sea,” said Nkengasong. He went on to say that there is great power in coordination and cooperation, and science diplomacy and technology are critical to winning the novel coronavirus war.

In a panel on research partnerships, speakers Motavu, Tshala-Katumbay, and Vilain emphasized the global benefits of scientific collaborations in Africa. Africa contains more human genetic variation than any other region of the world, and capturing that diversity in global understanding of the human genome — which is still heavily skewed toward individuals of European ancestry — will be a major factor in global medical advances of the future. And research into relatively localized diseases can lead to breakthroughs in broader understanding on connections between climate variation, environment, nutrition and child health. “The simplistic, localized, nationalist, way of doing science is over,” said Tshala-Katumbay, “and there is no way to go back.” The discipline of science diplomacy will take time for people to grasp, he added, “but it will be crucial for the future generation of scientists to go back.”

A recurring conference theme was that collaboration between countries is crucial for development of better care. Kilmarx told the event participants that in 2019, the National Institutes of Health supported some 1,668 collaborations with African research institutions. Investments in capacity building have yielded impressive results, and today some of Africa’s foremost leaders in science research and public health have received NIH training and support, stating: “If you plant acorns over the decades, you have some mighty oaks.” Bukusi, once such NIH trainee, now is engaged in training a new generation of African researchers and U.S. researchers based in Africa and expanding research partnerships at the Kenya Medical Research Institute.

Troyer showed the successes of the Human Heredity and Health in Africa Initiative, a large consortium that supports a pan-continental network of laboratories that aims to determine disease susceptibility and drug responses. Finally, DeLoffre underscored the need for long-term investments and the value of building local capacities to respond to current crises and anticipate future challenges.

Overall, there was optimism that innovative coalitions are a long-term strength in fighting pandemics and promoting reciprocal learning that will last after the crisis. Science can be a neutral platform that, combined with diplomacy and technology, builds bridges between peoples.

Getting to know the unstoppable Lataisia C. Jones, Ph.D.

January 15, 2020

Children’s National Hospital neuroscientist Lataisia C. Jones, Ph.D., appears in the Jan. 18, 2020, edition of Mission Unstoppable, a Saturday morning show aired by CBS that spotlights cutting-edge women leaders in science, technology, engineering and math.

Budding neuroscientist Lataisia C. Jones, Ph.D., is unstoppable. For instance, using everyday items that families can pluck from their own kitchen cabinets, she walks kids through the steps of creating homemade lava lamps. In the process, the youngsters learn a bit of science, like the fact that oil and water do not mix provides the hypnotic magic behind their new lamps.

Jones’ infectious enthusiasm for science that Children’s National Hospital patients and families experience in person during weekly Young Scientist sessions she hosts will be shared nationwide as Jones appears in the Jan. 18, 2020, edition of “Mission Unstoppable.” The half-hour show aired by CBS on Saturday mornings is co-produced by the Geena Davis Institute on Gender in Media and spotlights cutting-edge women leaders in science, technology, engineering and math (STEM).

“I’m excited,” Jones says of the filming experience. “It’s going to be an amazing opportunity to show kids that there is a fun way of learning. This show is opening a lot of doors and a lot of eyes to the fact that science can be fun.”

Jones’ scientific inquiry focuses on the corpus callosum, a network of fibers centrally located in the middle of the brain that is responsible for transferring information from one lobe to another. Her current research leverages experimental models to better understand brain abnormalities associated with autism spectrum disorder. Or, as she tells CBS viewers, studying the brain helps the field better understand how information is processed in order for people to move, learn and think effortlessly.

In September 2019, Jones was selected to serve as an IF/THEN Ambassador by the American Association for the Advancement of Science, the world’s largest general scientific society, to inspire the next generation of women pursuing STEM careers. A postdoctoral fellow in the Center for Neuroscience Research lab run by Masaaki Torii, Ph.D., Jones now also serves as a role model for future scientists, connecting with middle school students in person, virtually and via the CBS network television show.

“A lot of my inspiration comes from individuals who I mentor, which also shows that I am learning as well. If I am able to teach science, translate it in different ways to different audiences, I am helping to fulfill my lifelong dream,” she adds. “I always say we all have an inner scientist.”

As the first African American to earn a Ph.D. from Florida State University’s College of Medicine, Department of Neuroscience, Jones has continued to acquire “first” experiences throughout her academic and professional career. But she’s also motivated to diversify the ranks of science to ensure she’s not the last.

“I am not the normal face you see in science,” she says. “Another reason for me to be stronger and to work harder and get more things done in science is so people who look like me know they can do the same things and know that they’re just as good.”

Research and Education Week honors innovative science

April 19, 2019

Billie Lou Short, M.D., received the Ninth Annual Mentorship Award in Clinical Science.

People joke that Billie Lou Short, M.D., chief of Children’s Division of Neonatology, invented extracorporeal membrane oxygenation, known as ECMO for short. While Dr. Short did not invent ECMO, under her leadership Children’s National was the first pediatric hospital to use it. And over decades Children’s staff have perfected its use to save the lives of tiny, vulnerable newborns by temporarily taking over for their struggling hearts and lungs. For two consecutive years, Children’s neonatal intensive care unit has been named the nation’s No. 1 for newborns by U.S. News & World Report. “Despite all of these accomplishments, Dr. Short’s best legacy is what she has done as a mentor to countless trainees, nurses and faculty she’s touched during their careers. She touches every type of clinical staff member who has come through our neonatal intensive care unit,” says An Massaro, M.D., director of residency research.

For these achievements, Dr. Short received the Ninth Annual Mentorship Award in Clinical Science.

Anna Penn, M.D., Ph.D., has provided new insights into the central role that the placental hormone allopregnanolone plays in orderly fetal brain development, and her research team has created novel experimental models that mimic some of the brain injuries often seen in very preterm babies – an essential step that informs future neuroprotective strategies. Dr. Penn, a clinical neonatologist and developmental neuroscientist, “has been a primary adviser for 40 mentees throughout their careers and embodies Children’s core values of Compassion, Commitment and Connection,” says Claire-Marie Vacher, Ph.D.

For these achievements, Dr. Penn was selected to receive the Ninth Annual Mentorship Award in Basic and Translational Science.

The mentorship awards for Drs. Short and Penn were among dozens of honors given in conjunction with “Frontiers in Innovation,” the Ninth Annual Research and Education Week (REW) at Children’s National. In addition to seven keynote lectures, more than 350 posters were submitted from researchers – from high-school students to full-time faculty – about basic and translational science, clinical research, community-based research, education, training and quality improvement; five poster presenters were showcased via Facebook Live events hosted by Children’s Hospital Foundation.

Two faculty members won twice: Vicki Freedenberg, Ph.D., APRN, for research about mindfulness-based stress reduction and Adeline (Wei Li) Koay, MBBS, MSc, for research related to HIV. So many women at every stage of their research careers took to the stage to accept honors that Naomi L.C. Luban, M.D., Vice Chair of Academic Affairs, quipped that “this day is power to women.”

Here are the 2019 REW award winners:

2019 Elda Y. Arce Teaching Scholars Award
Barbara Jantausch, M.D.
Lowell Frank, M.D.

Suzanne Feetham, Ph.D., FAA, Nursing Research Support Award
Vicki Freedenberg, Ph.D., APRN, for “Psychosocial and biological effects of mindfulness-based stress reduction intervention in adolescents with CHD/CIEDs: a randomized control trial”
Renee’ Roberts Turner for “Peak and nadir experiences of mid-level nurse leaders”

2019-2020 Global Health Initiative Exploration in Global Health Awards
Nathalie Quion, M.D., for “Latino youth and families need assessment,” conducted in Washington
Sonia Voleti for “Handheld ultrasound machine task shifting,” conducted in Micronesia
Tania Ahluwalia, M.D., for “Simulation curriculum for emergency medicine,” conducted in India
Yvonne Yui for “Designated resuscitation teams in NICUs,” conducted in Ghana
Xiaoyan Song, Ph.D., MBBS, MSc, “Prevention of hospital-onset infections in PICUs,” conducted in China

Ninth Annual Research and Education Week Poster Session Awards

Basic and Translational Science
Faculty: Adeline (Wei Li) Koay, MBBS, MSc, for “Differences in the gut microbiome of HIV-infected versus HIV-exposed, uninfected infants”
Faculty: Hayk Barseghyan, Ph.D., for “Composite de novo Armenian human genome assembly and haplotyping via optical mapping and ultra-long read sequencing”
Staff: Damon K. McCullough, BS, for “Brain slicer: 3D-printed tissue processing tool for pediatric neuroscience research”
Staff: Antonio R. Porras, Ph.D., for “Integrated deep-learning method for genetic syndrome screening using facial photographs”
Post docs/fellows/residents: Lung Lau, M.D., for “A novel, sprayable and bio-absorbable sealant for wound dressings”
Post docs/fellows/residents: Kelsey F. Sugrue, Ph.D., for “HECTD1 is required for growth of the myocardium secondary to placental insufficiency”
Graduate students: Erin R. Bonner, BA, for “Comprehensive mutation profiling of pediatric diffuse midline gliomas using liquid biopsy”
High school/undergraduate students: Ali Sarhan for “Parental somato-gonadal mosaic genetic variants are a source of recurrent risk for de novo disorders and parental health concerns: a systematic review of the literature and meta-analysis”

Clinical Research
Faculty: Amy Hont, M.D., for “Ex vivo expanded multi-tumor antigen specific T-cells for the treatment of solid tumors”
Faculty: Lauren McLaughlin, M.D., for “EBV/LMP-specific T-cells maintain remissions of T- and B-cell EBV lymphomas after allogeneic bone marrow transplantation”

Staff: Iman A. Abdikarim, BA, for “Timing of allergenic food introduction among African American and Caucasian children with food allergy in the FORWARD study”
Staff: Gelina M. Sani, BS, for “Quantifying hematopoietic stem cells towards in utero gene therapy for treatment of sickle cell disease in fetal cord blood”
Post docs/fellows/residents: Amy H. Jones, M.D., for “To trach or not trach: exploration of parental conflict, regret and impacts on quality of life in tracheostomy decision-making”
Graduate students: Alyssa Dewyer, BS, for “Telemedicine support of cardiac care in Northern Uganda: leveraging hand-held echocardiography and task-shifting”
Graduate students: Natalie Pudalov, BA, “Cortical thickness asymmetries in MRI-abnormal pediatric epilepsy patients: a potential metric for surgery outcome”
High school/undergraduate students: Kia Yoshinaga for “Time to rhythm detection during pediatric cardiac arrest in a pediatric emergency department”

Community-Based Research
Faculty: Adeline (Wei Li) Koay, MBBS, MSc, for “Recent trends in the prevention of mother-to-child transmission (PMTCT) of HIV in the Washington, D.C., metropolitan area”
Staff: Gia M. Badolato, MPH, for “STI screening in an urban ED based on chief complaint”
Post docs/fellows/residents: Christina P. Ho, M.D., for “Pediatric urinary tract infection resistance patterns in the Washington, D.C., metropolitan area”
Graduate students: Noushine Sadeghi, BS, “Racial/ethnic disparities in receipt of sexual health services among adolescent females”

Education, Training and Program Development
Faculty: Cara Lichtenstein, M.D., MPH, for “Using a community bus trip to increase knowledge of health disparities”
Staff: Iana Y. Clarence, MPH, for “TEACHing residents to address child poverty: an innovative multimodal curriculum”
Post docs/fellows/residents: Johanna Kaufman, M.D., for “Inpatient consultation in pediatrics: a learning tool to improve communication”
High school/undergraduate students: Brett E. Pearson for “Analysis of unanticipated problems in CNMC human subjects research studies and implications for process improvement”

Quality and Performance Improvement
Faculty: Vicki Freedenberg, Ph.D., APRN, for “Implementing a mindfulness-based stress reduction curriculum in a congenital heart disease program”
Staff: Caleb Griffith, MPH, for “Assessing the sustainability of point-of-care HIV screening of adolescents in pediatric emergency departments”
Post docs/fellows/residents: Rebecca S. Zee, M.D., Ph.D., for “Implementation of the Accelerated Care of Torsion (ACT) pathway: a quality improvement initiative for testicular torsion”
Graduate students: Alysia Wiener, BS, for “Latency period in image-guided needle bone biopsy in children: a single center experience”

View images from the REW2019 award ceremony.

Thirteen questions for a pediatric endocrinologist

December 27, 2018

Andrew Dauber, M.D., hosts an AMA chat with Reddit’s science community and offers feedback about height, growth disorders and pediatric endocrinology.

Andrew Dauber, M.D., MMSc., the division chief of endocrinology at Children’s National, spoke about epigenetics – how genes are expressed – and about all things related to pediatric endocrinology in a recent Ask Me Anything (AMA) chat with Reddit’s science community.

We’ve selected highlights from several questions Dr. Dauber received. You can view the full AMA discussion on Reddit.

Q1: What will the future of type 1 diabetes treatment look like?

As a pediatric endocrinologist, Dr. Dauber sees a lot of patients with type 1 diabetes. He predicts technology will pave the way for advancements with continuous glucose monitoring and encourage a ‘real-time’ interaction between patients and providers:

“I anticipate that within a few years, everyone will have access to continuous glucose monitoring technology and that these will be seamlessly connected to insulin pumps or artificial pancreas technologies,” types Dr. Dauber in response to the first AMA question. “I also think there will be more virtual interaction between medical providers and patients with doctors and nurses reviewing blood sugar data in the cloud.”

Q2: What height range is considered normal for a growing child? What is the difference between short stature and a height problem?

The Centers for Disease Control and Prevention has a growth chart, which shows ‘normal’ ranges, based on statistical definitions of height in the general population.

“The truth is that I know plenty of people who have heights below the ‘normal’ population, and they don’t think they have a problem at all,” says Dr. Dauber. “From a genetics point of view, the question can be reframed: When do we call a genetic variant a ‘mutation’ versus a rare variant in the population? For example: If there is a genetic change that 1 in a 1,000 people have that causes you to be 2 inches shorter – is that a problem? Is that a disease?”

“From a clinical perspective, I tend to have a discussion with my patients and their families and ask them how their stature is affecting their lives and whether changing that would really make a meaningful difference,” adds Dr. Dauber. “I believe that this is a very personal decision but people need to be realistic about expected outcomes.”

Q3: What are your favorite case studies about atypical growth or height patterns?

Dr. Dauber references two case studies about growth and puberty:

The growth case study refers to the PAPPA2 gene, which was particularly meaningful for Dr. Dauber since he got to know the family and was able to provide answers to a previously undiagnosed medical mystery about short stature. This research is also opening future studies and analysis about the regulation of IGF-1 bioavailability.

The puberty case study looks at the opposite end of growth and development: precocious puberty. In this case an inherited MKRN3 gene mutation resulted in new insight about the regulation of pubertal timing: Deficiency of MKRN3 caused central precocious puberty in humans. Girls who had inherited the mutated genes from their father (an imprint gene) started to develop breasts before age 6. The results were published in The New England Journal of Medicine.

Q4: What are the differences with consistent and inconsistent growth disorders? Could one arm or leg experience accelerated or stunted growth?

“Most genetic disorders that affect growth will have a uniform effect throughout the body as they are likely to affect all aspects of the skeleton,” says Dr. Dauber. “That being said, there are some notable exceptions such as Russell-Silver syndrome which presents with body asymmetry. There are also somatic mutations (mutations which are just present in some cells in the body) that can lead to segmental areas of overgrowth leading to asymmetry.”

Q5: Can you predict height and growth by looking at genetic factors? What are your thoughts about polygenic risk scores?

“Polygenic risk scores will probably play more of a role in the future to help determine risk of a certain disease,” says Dr. Dauber. “Right now, for most conditions, the risk score does not explain a substantial enough fraction of the variation to help with prediction.”

Dr. Dauber discusses how this works for height, a highly hereditable trait, in The Journal for Clinical Endocrinology and Metabolism. In the review, Dr. Dauber and the study co-authors note that individuals with extreme heights are more likely to have abnormal stature as a result of a severe mutation that causes a growth disorder. For these individuals, whole exome sequencing may reveal gene mutations.

However, the study authors note that for now, the role of these technologies in individuals with extreme stature but without any syndromic features has not been rigorously and systematically explored. (Dr. Dauber and a team of endocrinologists from leading children’s hospitals are currently using electronic health records to study and track these types of genetic clues over time.)

Q6: The general public is excited about genetics and ongoing research, especially with consumer applications – such as genetic tests, including 23andMe. What misconceptions about genetics do people have? What ethical concerns do geneticists share right now?

“Many people think that genetics is completely deterministic,” says Dr. Dauber. “In reality, most genetic variants influence a person’s predisposition toward a trait or disease but don’t actually determine the outcome. Also, the genetic sequence itself is just the first step. Epigenetics, gene regulation, and gene-environment interactions are all important and we are just scratching the surface of understanding these areas.”

“I think that people engaged in genetics research are very interested in the ethical questions,” adds Dr. Dauber. “The problem is that technology is advancing at such a rapid pace, that often consumers are using technologies in ways that we haven’t yet had time to figure out the ethics for. The medical community is often playing catch up.”

Q7: Aside from using gene modifications to cure diseases, where or when should we draw the line in terms of enhancement?

“I think genetic modification for enhancement is a very dangerous slippery slope that we should avoid,” says Dr. Dauber. “We really don’t know the full effect of many genes and by enhancing them, we could be causing lots of problems that we can’t anticipate. There is a reason that evolution is a slow process that happens over millions of years. I think we need to start with the most devastating diseases and try to cure those first.”

Q8: Would it be ethical to use CRISPR on the genes for short stature to produce tall offspring if the risks are sufficiently small? This would be similar to what Dr. He did, but without the ethical violations.

“This is a fascinating question and it will become more of an issue over time,” says Dr. Dauber. “Where do we draw the line between fixing, preventing disease and enhancing physical function? Personally, I think using genome editing to promote height is a terrible idea. Our current perception that taller height is more desirable is a social construct and varies by culture. This idea also changes over time.”

Q9: Overall, how does this fit into meeting unmet medical needs?

“I would be very wary about trying to design our children’s physical features,” Dr. Dauber notes. “We need to figure out as a society what diseases are sufficiently problematic that we feel comfortable trying to eliminate them via genome editing.”

Q10: How many genes control acromegaly? Is it possible (in theory) to Top of Formselect them just to gain the positive effects of gigantism without the health risks?

Dr. Dauber explains that acromegaly, a condition often referred to as gigantism, is caused by a growth hormone-producing tumor. There are a few genes known to cause these tumors, including the AIP, and there was recently a genetic cause of X-linked gigantism, which was published in The New England Journal of Medicine.

“This basic idea is a good one,” notes Dr. Dauber. “We can find genes that when mutated can cause tall stature – and then try to manipulate those pathways. A great example is the NPR2 gene, which when mutated can cause short or tall stature. This pathway is being targeted for therapeutics related to achondroplasia.”

The National Institutes of Health (NIH) refers to achondroplasia as ‘short-limbed dwarfism,’ which results in an average-sized trunk with short limbs, especially arms and legs, due to a lack of cartilage turning into bone. The average height of an adult male with achondroplasia is 4 feet, 4 inches, while the average height of adult females with achondroplasia is less than 4 feet, 1 inch. In this case, manipulating growth pathways may help alleviate health problems associated with achondroplasia: lack of mobility or range of motion, an enlarged head, apnea, ear infections and spinal stenosis, or a compression or pinching of the spinal cord.

Q11: Give us a history lesson. Why are there variations of height within populations, such as Asia and Latin America?

“The average height in a population is due to the influence of literally thousands of common genetic variants,” says Dr. Dauber. “These population differences have evolved over thousands of years due to a combination of migration and selection. There is a well-known difference in the genetic makeup of various populations which likely underlies the differences across the globe. There are even differences within Europe.”

Q12: Are there examples of pseudoscience or theories about growth, such as recommendations to eat a certain food instead of taking growth hormones to correct for a growth disorder, which runs contrary to scientific evidence, that drive you crazy?

“I don’t really get bothered by crazy theories, but it is upsetting when patients and their families get swindled into spending their money on therapies that aren’t truly effective,” says Dr. Dauber. “People ask me all the time if a certain food or exercise can make their child taller. The bottom line is that in a well-nourished (and healthy) child, there is no magical food that is going to make them tall.”

Q13: According to almost every theory of how life evolved on Earth, from religion to evolution, we all have one common ancestor. In theory doesn’t that make us all cousins?

“Yes, just very distant ones,” says Dr. Dauber. “People always point out the vast number of differences between races but in fact we are all more than 99.9 percent identical on a genetic level.”

Stay on top of the latest pediatric endocrinology news by following @EndoDocDauber and @ChildrensHealth on Twitter: #GrowUpStronger.