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I am deeply saddened to learn that Michael V Johnston MD. Professor Emeritus of Pediatrics and Neurology at the Johns Hopkins University School of Medicine and former Chief Medical Officer and Executive Vice President at the Kennedy Krieger Institute, Baltimore, passed away on July 30, 2022. Dr Johnston (Mike) was a very active and cherished member of the ICNA and served on the executive board for two terms. He was a brilliant academician and researcher and his seminal work on the role of glutamate and excitotoxicity in hypoxic ischaemic injury and its effects on the developing brain is well known internationally. A great mentor, he was very supportive and patient, and was admired by all his mentees. He collaborated with clinicians and researchers and continued to treat patients with complex neurological disorders.
Along with his friend and colleague, Dr Gary Goldstein, he spearheaded the Kennedy Krieger Institute for 31 years, into an Institution known for cutting edge research and for providing state-of-the-art management to children with neuro-developmental disorders. He published hundreds of research papers and gave numerous invited lectures across the world. He received several awards and honours including the Frank Ford Lecture award of the ICNA (2016), the Blum/ Moser Endowed Chair for Paediatric Neurology at the Kennedy Krieger Institute and the Bernard Sachs Award from the Child Neurology Society.
I had the privilege of being one of the many people whose lives he touched. I was closely associated with him since 1991 when I worked with him at the Kennedy Krieger Institute. Subsequently he visited our Institution -The Post Graduate Institute for Medical Education and Research Chandigarh, India, as a visiting Professor and an invited speaker periodically. He had qualities of the head and heart both! Despite his several professional accomplishments, he was such a humble, caring, and friendly person and a truly devoted family man. Both, he, and his wife Sally, loved music, hosted many friends, and went out of their way to help people. He is survived by his loving wife Sally, three sons and their wives, and eight lovely grandchildren. Mike will be missed not only by the ICNA community, but by Paediatric Neurologists all over the world.
Pratibha Singhi
Secretary and President Elect
ICNA
Also see:
Michael VanDoren Johnston, M.D. Obituary
Michael V. Johnston, M.D., Professor Emeritus of Pediatrics and Neurology at Johns Hopkins University School of Medicine and former Chief Medical Officer and Executive Vice President at the Kennedy Krieger Institute, passed away peacefully at home in Baltimore on July 30, 2022. The cause was pancreatic cancer.
Dr. Johnston (“Mike”) was born January 30, 1946 in Pittsburgh, and raised in Christiana, a small town outside of Lancaster, Pennsylvania. His father, Eugene, was a physician and his mother, Naomi, was a nurse. Together Mike’s parents ran a general practice out of their home. From a young age, Mike wanted to be a doctor and would accompany his father on house calls to patients living on the farms that surround Christiana. Many of his father’s patients were Amish, and Mike helped build a hitching post in front of the home office to allow them to secure their horses and buggies during visits.
After graduating as Valedictorian from Octorara High School in 1963, Mike went on to Franklin and Marshall College in Lancaster. It was there that he met the love of his life and future wife, Susan (“Sally”) Johnston, who had traveled to Franklin and Marshall from Chatham College in Pittsburgh as part of a visiting choir to sing the opera, Dido and Aeneas. Mike and Sally liked to say that their love of music brought them together, and Mike was a lifelong lover of opera music. Mike and Sally were married in 1968 in Pittsburgh where Mike was attending medical school at the University of Pittsburgh School of Medicine. Dr. Johnston graduated from medical school in 1971, first in his class, and he and Sally then moved to Baltimore for his internship and residency in Pediatrics at The Johns Hopkins University School of Medicine. After completing his pediatrics residency, Dr. Johnston was drafted into the U.S. Army and served two years working for the U.S. Army Office of the Surgeon General in Washington, D.C. He then returned to Johns Hopkins in 1976 for residency in Neurology. Dr. Johnston was drawn to pediatric neurology because he was fascinated by the brain and saw enormous potential in the field for new discoveries. It was during this time that he worked in the laboratory of Dr. Joseph T. Coyle, where their work resulted in the discovery of the role of the nucleus basalis in the developing brain. In 1980 Dr. Johnston started his first faculty position at the University of Michigan Medical School. During his time in Ann Arbor, Dr. Johnston conducted pivotal research into the role of glutamate in hypoxic ischemic brain injury and its effects on the developing brain. He was rapidly promoted, becoming a full Professor of Pediatrics & Neurology at the University of Michigan in 1987.
In 1988 Dr. Johnston returned to Baltimore to help lead the Kennedy Krieger Institute with his long-time friend and colleague, Dr. Gary Goldstein. This was his dream job. Kennedy Krieger allowed Dr. Johnston the opportunity to continue his research and collaborate with brilliant clinicians and researchers, while also continuing to treat patients. His patients often had rare and complex neurological disorders, but Dr. Johnston saw potential. With his knowledge and compassion, he endeavored to bring hope to these children and their families. Over 31 years at Kennedy Krieger Dr. Johnston helped grow the institution into a world leader in research and clinical care of children with neurologic and developmental disorders. Over his career Dr. Johnston published hundreds of peer-reviewed articles, chapters, and textbooks, and lectured around the world. He also mentored countless numbers of young researchers and clinicians and was generous with his time. In recognition of his achievements, he served on the American Board of Psychiatry and Neurology (ABPN) and served as the President of ABPN in 2007. He in addition received numerous honors and awards including the Bernard Sachs Award from the Child Neurology Society (2008), the Blum/Moser Endowed Chair for Pediatric Neurology at Kennedy Krieger Institute (2009), and the Frank Ford Lecture Award from the International Child Neurology Association (ICNA) (2015).
Aside from his professional career, Dr. Johnston was devoted to his family. He cherished every moment he was able to spend with his family on vacation in Rangeley, Maine, where he had vacationed with his family as a boy. Sally was a native of Yarmouth, Maine and from the time their three boys were little, Sally and Mike spent nearly every summer vacation in Maine, along with extended family. Dr. Johnston is survived by his loving wife of 54 years, Sally Johnston, his three sons, Peter, Jamie, and Joe, his daughters-in-law Cecilia, Kristin, and Jennie, and—the light of his life—his eight grandchildren, Elizabeth, Michael, Andrew, Ryan, Caroline, Eli, Scarlett, and Liam. His two siblings, David Johnston, M.D. and Marcia Johnson, predeceased him.
A Memorial Service for Dr. Johnston will be held on Saturday, August 20 at 11 a.m. at the Second Presbyterian Church, 4200 St Paul St, Baltimore, MD 21218. In lieu of flowers, memorial contributions may be made in his name to Kennedy Krieger Institute at www.KennedyKrieger.org/Tributes or direct your gift to the Office of Philanthropy, Kennedy Krieger Foundation, 707 N. Broadway, Baltimore, MD 21205.
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It is with great sadness we share that Alcy Torres Catefort Sr, MD, father of our esteemed colleague Dr. R. Alcy Torres, a global health leader himself, died January 9, 2022, at home. He was 84.
Born in Ecuador, Dr. Torres received his MD from Universidad Central del Ecuador. He completed his residency in Pediatrics at Children’s Hospital of Paris (Necker-Enfants Malades) in 1968 and obtained additional training on Neonatology at the Mexican Institute of Social Security (IMSS) in Mexico. Dr. Torres’s career began with his service long before becoming a pediatrician. He was an intern at Hospital Baca-Ortiz (Children’s Hospital of Quito), where he acquired excellent experience for several years which became the base of his pediatric knowledge. After becoming a pediatrician, he joined the Carlos Andrade Marin Hospital (HCAM) in Quito, Ecuador, in 1972, where he subsequently became the founder and Director of the Pediatric Emergency Department, Pediatric Critical Care, and General Pediatrics.
Although Dr. Torres continued as Director of Pediatrics, he dedicated himself to Pediatric Neurology, a specialty that he practiced until his retirement in 2010 at the age of 72. During his tenure, the Pediatric Service became a Department with the highest complexity level of care for pediatric referrals nationwide. When the social security law extended health coverage to workers' children and native Ecuadorians, Dr. Torres saw the need to expand the Pediatric Ward, and he developed a Pediatric Specialties Ward. He also developed a hospitality program that offered hospitality and food to families coming from long distances and requiring lengthy hospitalizations due to malaria, complicated meningitis, trauma, and cancer.
From his early years in medical school, Dr. Torres became involved in teaching, as Instructor of Anatomy, and after his graduation, he joined the Faculty of the Universidad Central del Ecuador, School of Medicine, in the area of Pediatrics. He was asked to develop the Pediatric Neurology program, the first in the country and shortly after, he wrote the Pediatric Neurology book, known as the “Red Book.” He quickly moved up through the academic ladder to become Professor of Pediatrics and Chairman of the Department of Pediatrics.
Dr. Torres’s scientific contributions and research interests as a pediatrician were to develop an alternative method for infant rehydration, gut repair, and early feeding with the “Soup de Carrot.” In the field of Pediatric Neurology, he focused on the study of neonatal encephalopathy, with several publications like the study of 1100 newborn babies with hypoxic ischemic encephalopathy, later included in his textbook of Pediatric Neurology Emergencies. In addition, Dr. Torres authored many publications during his scientific prolific career and several leading editions of his books on Pediatric Neurology.
Dr. Torres was greatly appreciated by his students and staff in general. His teaching style reached their hearts and was characterized by motivating them to improve. Besides scientific teaching, he shared his experiences of living in France and the ways to overcome the obstacles that life presents us all. Throughout his career, Dr. Torres received countless honors and accolades for his accomplishments and innovative program development. He initiated and oversaw programs to improve health outcomes for children with dehydration and hypoxic-ischemic injury and helped establish clinics providing specialized services to Ecuadorian minorities. Dr. Torres was a lifelong champion of Pediatric Emergency and Pediatric Neurology. In addition, he volunteered for more than 30 years caring for sick orphan children at Hogar del Nino, San Vicente de Paul, in the south of Quito, an area of extreme poverty.
Dr. Torres was a seminal force in academic medicine at the local, national, and international levels. He was President of the Ecuadorian Pediatric Society, President of the Academia Iberoamericana de Neurologia Pediatric Congress, member of the French Pediatric Society, and member of the Asociacion Latinoamericana de Pediatria, Executive Board in Neurology. He met AAP President Dr. Errol Alden in Rio de Janeiro during an IPA meeting to discuss how to improve medical education in our hemisphere, which led to formal education on NALS and later on PALS in many countries in Latin America. Dr. Torres’s guidance and passionate support for his students, trainees, and junior faculty helped mold countless generations of pediatricians in Ecuador. In each domain of service, he insisted on excellence and purpose, always demanding attention to the health and dreams of the neediest among us.
Dr. Torres had many and varied interests beyond medicine. He had a deep knowledge and passion for reading and music. He enjoyed traveling to the mountains and spending time with friends and family. He and his beloved wife Gladys Guerrero had three children, Alcy, Gladys, and Edmundo, all physicians with specialties in Pediatric Neurology, Ophthalmology, and Internal Medicine, respectively.
Dr. Torres will be remembered for his love for his family and friends, for his warmth and good humor, for his unusual combination of humility and dignity, for his unfailing curiosity in all things, and always, for his sense of style. The services were private. A celebration of Dr. Torres’s life will be held at a later date. Our sincere condolences to Dr. Torres’s family, friends, and colleagues and, particularly, to Alcy, his older son, who follows in his father’s steps in Boston and is an esteemed member of the ICNA.
Originally published in the AAP Section of Global Health Newsletter
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Read more: A Child Without a Shadow: A Memoir of a Holocaust Survivor and a World Famous Doctor
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Scientists rescue Fukuyama congenital muscular dystrophy-related brain defects in a new organoid model developed using stem cells from affected patients
Fukuyama congenital muscular dystrophy (FCMD) is a severe genetic neuromuscular disorder affecting the eyes, brain, and muscles. FCMD is caused by mutations disrupting the glycosylation (addition of sugars) of α-dystroglycan (αDG)—a protein required for maintaining muscle integrity. During fetal development, the lack of glycosylation destroys αDG function, leading to severe muscular dystrophy, intellectual disabilities, seizures, and insomnia. Infants born with FCMD have low life expectancies, and patients typically do not survive into their 20s. Despite this, no cure for FCMD has been discovered yet, partly owing to the unavailability of appropriate animal models for research.
In a recent breakthrough, scientists from Japan and the USA have developed the first human disease model of FCMD using stem cells from a patient with FCMD. Their study, published in the peer-reviewed journal iScience, describes the effectiveness of a small compound called Mannan-007 (Mn007) in reducing FCMD-related defects in this model.
For Dr. Mariko Taniguchi-Ikeda, Assistant Professor at the Fujita Health University Hospital and also the lead investigator on this study, finding a cure for FCMD has been a life-long mission. She says, “Having worked with patients with FCMD for more than 20 years, I understood the importance of attempting to cure this disease. But first, we needed a better model to study FCMD in the laboratory.”
To solve this problem, Dr. Taniguchi-Ikeda’s team transformed pluripotent stem cells derived from an FCMD patient into skeletal muscle and “brain organoids”—artificially grown miniature organs resembling the brain. “Using a brain organoid model derived from pluripotent stem cells, we showed the restoration of defects in the radial architecture of neurons and cortical plate organization of Fukuyama muscular dystrophy,” explains Prof. Takashi Aoi from Kobe University, who collaborated with Dr. Taniguchi-Ikeda on this study.
The brain organoids successfully mimicked the features of FCMD, including the low levels of αDG glycosylation. They also showed impairments in neuronal migration—a process crucial for normal brain development—owing to a disorganized arrangement of guiding cells called radial glia. This new fetal human brain model of FCMD was therefore superior to animal models, which do not fully reproduce FCMD-like brain anomalies.
Encouraged by the successful development of this model, the team set out to test potential treatment options for FCMD. In particular, they investigated whether the small compound Mn007 could reduce the FCMD-like defects observed in the organoids. Dr. Taniguchi-Ikeda explains, “Because of gene mutations, the multi-step process of αDG glycosylation is impaired in FCMD. We hypothesized that the addition of a molecule like Mn007 that can promote αDG glycosylation would rescue the defects observed in FCMD.”
To their delight, their hypothesis was validated. They observed that Mn007 could restore the levels of αDG in both the muscle and brain models tested. Further, brain organoids treated with Mn007 showed partial improvements in radial glial architecture and neuronal migration, resulting in fewer development defects. Their findings therefore highlighted the importance of αDG glycosylation in regulating these processes and demonstrated the potential of Mn007 and similar molecules in therapies for FCMD and related diseases.
This study from Dr. Taniguchi-Ikeda and her team brings a ray of hope for thousands of potential parents worldwide, and especially in Asia, where most cases of FCMD are encountered. “Mn007 can cross over from the blood into the brain. Therefore, it could be a viable prenatal option for restoring normal neuronal migration in patients with FCMD and other diseases caused by glycosylation defects in αDG and reducing their brain-related symptoms. This is an exciting opportunity for clinical translation down the road,” comments Prof. Bennett G. Novitch from the David Geffen School of Medicine at the University of California, who also contributed to this study. His co-author, Dr. Momoko Watanabe from the University of California, Irvine, adds that their findings also offer a valuable opportunity for delineating the molecular mechanisms that lead to migration defects caused by the lack of αDG glycosylation in FCMD.
Overall, the findings of this study are an important landmark in the quest to tackle diseases like FCMD. And while a cure could still be years away, thanks to Dr. Taniguchi-Ikeda and her team, the future of therapies targeting FCMD and other related diseases now looks brighter than ever.
Source: News Release
DOI: https://doi.org/10.1016/j.isci.2021.103140
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Maha S. Zaki, MD, PhDA study published in The New England Journal of Medicine details how researchers discovered a previously unknown genetic disorder that affects prenatal development in children and identified a potential cure.
Through a worldwide collaboration, Researchers have identified children from Egypt, India, United Arab Emirates, Brazil, and USA who have all showed similar symptoms and had DNA mutations in the same gene. They have called the disorder Zaki syndrome, after co-author Maha S. Zaki, MD, PhD, of the National Research Center in Cairo, who first noticed it. The syndrome affects prenatal development of several organs of the body, including eyes, brain, hands, kidneys and heart, and can result in lifelong disabilities. The Egyptian Society of Pediatric Neurological and Psychological Diseases has awarded Dr.. Maha Saad Zaki with the Scientific Excellence Award.
Whole genome sequencing studies have shown that these children have mutations in the gene "WNT-less', abbreviated WLS. The WLS gene controls the level of signaling of a hormone-like protein called WNT (pronounced wint). Searching a database of more than 20,000 families with children with neurodevelopmental disorders, the researchers identified 10 people from five unrelated families that had homozygous mutations in WLS.
The researchers generated stem cells and mouse models for Zaki syndrome and treated the condition with a drug called CHIR99021, which boosts Wnt signaling. In each mouse model, they found CHIR99021 boosted Wnt signals and restored development. The mouse embryos grew body parts that had been missing, and organs resumed normal growth. According to Joseph G. Gleeson, MD, the Rady Professor of Neuroscience at the University of California San Diego School of Medicine and director of neuroscience at Rady Children’s Institute for Genomic Medicine , it might be “just a matter of time” until CHIR99021 can be used to treat Zaki syndrome regularly.
References: Chai G, et al. N Engl J Med. 2021;doi:10.1056/NEJMoa2033911.