2024 HCU Hero Award: James Weisfeld-Adams
Dr. James Weisfeld-Adams was an accomplished physician and researcher who made significant contributions to the field of clinical genetics and metabolism. Born in Hastings, UK, in 1979, he pursued his medical degree at the University of Aberdeen in Scotland. His passion for understanding inborn errors of metabolism led him to complete a combined Pediatric and Medical Genetics residency, followed by a Clinical Biochemical Genetics fellowship at Mount Sinai School of Medicine in New York.
In January 2012, Dr. Weisfeld-Adams joined the faculty at Mount Sinai, where he focused on research related to homocystinuria, cobalamin defects, and urea cycle disorders. He actively participated in various clinical care initiatives, including serving as the local site principal investigator for the national Urea Cycle Disorders Consortium and the European Network and Registry for Homocystinurias and Methylation Defects. His dedication to patient care and academic pursuits earned him respect from colleagues worldwide.
In December 2013, Dr. Weisfeld-Adams moved to Colorado, becoming an Assistant Professor in Pediatrics at the University of Colorado School of Medicine. He continued his work in metabolic disorders, mentoring graduate genetic counseling students, medical genetics residents, and biochemical genetics fellows. Despite health challenges, he remained committed to his academic endeavors, contributing insightful comments to the field up until the last week of his life.
James was known for his compassionate and reflective personality, making him easy to collaborate with and considerate of his colleagues. His love for both Exmoor in England and Scotland remained strong, even as he embraced his new home in the USA. Tragically, his promising academic career was cut short by renal cancer, but his legacy lives on through his contributions to medicine and the lives he touched. He is survived by his wife, Emma, and their two children.
HCU Network America is bestowing this HCU Hero award posthumously to Dr. Weisfeld-Adams in light of the many contributions he made to our community through his research and clinical care and the passion and commitment he demonstrated in add he did for us. May his memory continue to inspire those who follow in his footsteps.
2022 HCU Hero Award: Dr. Harvey Mudd
The third HCU Hero Award was presented posthumously in memory of Dr. S. Harvey Mudd to his wife Marion Mudd, with several other family members in attendance.
S. Harvey Mudd was a physician and researcher at the National Institute of Health (NIH). Harvey, considered by many as the “Father of Methionine Metabolism”, dedicated his life’s work to the understanding and diagnosis and treatment of Methionine and Homocysteine related disorders. Since the 1960’s Harvey authored and co-authored over 200 publications. Harvey’s career highlights include the discovery of Cystathionine Beta Synthase Deficiency, better known as Classical Homocystinuria and co-discovery of Cobalamin C deficiency, along with multiple other metabolic disorders. The community will never forget Harvey and his commitment to patients and families suffering from these diseases.
2019 HCU Hero Award: Jan Kraus
The second HCU Hero Award was presented posthumously in memory of Dr. Jan Kraus.
Jan Kraus was a Professor in Pediatric Clinical Genetics and Metabolism at the University of Colorado. Jan, considered by
many as the “Father of Homoycstinuria”, dedicated his life’s work to the understanding and diagnosis and treatment of Homocystinuria (HCU) and Proprionic Acidemia (PA). Since the 1960’s Jan authored and co-authored over 160 publications regarding HCU and PA. Jan’s career highlights include building a database of all the genetic mutations associated with Homocystinuria, as well as being the inventor of the OT-58 product (a pegylated version of the CBS enzyme) that is in human trials for Classical Homocystinuria patients. The community will never forget Jan and his commitment to patients and families suffering from these diseases, and we send our sincere condolences to his wife Eva and family.
2018 HCU Hero Award: Dr. Harvey Levy
The first ever HCU Hero Award was presented to Dr. Harvey Levy, and is intended to be awarded at each patient/family meeting.
Following graduation from the Medical College of Georgia, Dr. Levy trained in pediatrics in Boston, New York, and Baltimore. Following pediatric training, Dr. Levy then completed a fellowship in metabolic disorders at the Massachusetts General Hospital (MGH) under Dr. Mary Efron, a pioneer in metabolism. After completing this training, Dr. Levy joined the faculty of the MGH and Harvard and also served as
Consultant in Metabolism to the Massachusetts Newborn Screening Program. In 1978, Dr. Levy moved to Boston Children’s Hospital to found and serve as Director of the Metabolic Program, now the Biochemical Genetics section of the Division of Genetics.
Dr. Levy developed a specific interest in homocystinuria during his fellowship when he identified the first case diagnosed from newborn screening. Shortly thereafter he and Dr. Harvey Mudd discovered the first example of increased homocysteine due to a non-homocystinuria disorder, now known as cobalamin C defect. This was also the first example of a human disorder of vitamin B12 metabolism. Disorders of sulfur metabolism have continued to be a major interest of Dr. Levy throughout his career. He has authored over 400 medical articles and book chapters on metabolic disorders, including many on the homocystinemias, and has received a number of national and international awards for his achievements. The HCU Community congratulates and thanks Dr. Levy for his dedication and contributions!