Joseph James Higgins   Clinical Professor of Pediatrics (Courtesy)

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Joseph J. Higgins, M.D., F.A.A.N. is board certified in pediatrics, and board certified in neurology with special qualification in child neurology with NIH post-doctoral fellowship training in metabolism and developmental molecular neurobiology.  Dr. Higgins is presently a Professor (voluntary) in the Division of Pediatric Neurology at Weill Cornell Medical College. He has extensive clinical and laboratory experience with strong academic accomplishments.  Dr. Higgins' career has been focused on translational research in neurogenetics.  He has held leadership positions in the past in the federal and state governments as well as in the private sector. His leadership and record in the field of developmental disabilities qualify him for the position as the director of a basic science and clinical research initiative to investigate the causes of autistic spectrum disorder.

Major clinical achievements. Dr. Higgins is board certified in Pediatrics by the American Academy of Pediatrics and in Neurology with Special Qualification in Child Neurology by the American Academy of Neurology. He completed residencies and fellowships at Boston Children’s Hospital (Harvard University), Bellevue, NYU Medical Center, Children’s National Medical Center (George Washington University) and the National Institute of Neurological Disorders and Stroke (NINDS, NIH). Dr. Higgins was asked to stay on at NIH in 1993 as Chief of the Neurogenetics Unit at NINDS (1993-1998). During his five-year tenure, he organized, planned, and managed a multidisciplinary clinical neurogenetics program and molecular genetics laboratory studying movement disorders. This work led to the identification of the genetic loci for essential tremor, familial Parkinson’s disease and a novel type of spinocerebellar ataxia. In 1998, he spearheaded the human genetics initiative at the New York State Department of Health (NYSDOH) where he directed and trained staff in molecular biology and its application to human disease (1998-2000). In 2000, he left the NYSDOH as the Director of Neurogenetics to face the challenge of organizing a research and clinical program in genetics and child neurology in the Mid-Hudson Valley in New York State. The clinic was the only child neurology/neurogenetics clinics in the region that provided genetic counseling, genetic testing, and child neurology services (2000-2006).

Major scientific achievements. Dr. Higgins’ scientific achievements have paralleled his clinical work because they have both concentrated on translational neurogenetics.  He was an NIH study section member for seven years and now serves on an NIH special emphasis panel to fund US states with inadequate research infrastructure (INBRE). Besides reporting several novel clinical syndromes during his fellowship at NIH, he also mastered the technical aspects of transgenic technology and knocked-out the pro-opiomelanocortin gene in murine embryonic stem cells by homologous recombination. As Chief of the Neurogenetics Unit at NINDS, his laboratory was instrumental in the identification of the genetic locus on chromosome 4q for Parkinson disease that eventually led to the discovery of the role of the alpha-synuclein gene in the disorder.  His NIH laboratory also reported one of the first genetic loci for familial essential tremor, and conducted genetic studies on the tau, and pyruvate carboxylase genes.  At the NYSDOH, he reported the first genetic locus for a mild type (IQs 50 to 70) of autosomal recessive nonsydromic mental retardation (ARNSMR).  He completed this work in the Mid-Hudson Valley by the discovering the gene that caused this type of ARNSMR. This gene, which he named cereblon (CRBN), affects long term potentiation by perturbing large conductance Ca2 -activated K channels (BKCa) in the hippocampus. His collaboration with Drs. Rajadhyaksha and Kosofsky at Weill Cornell Medical College has led to an expansion of the research program in the Division of Pediatric Neurology. These projects which are funded by the Hartwell Foundation and the March of Dimes has hastened the effort to bring his neurogenetic discoveries to the next level, namely, to study the functional aspects of CRBN in humans and in animal models. These collaborative studies are yielding interesting insights into the neurobiology of autistic spectrum disorder and mental retardation.

Financial Support. Dr. Higgins has received numerous research grants from NIH and private foundations in the past. His recent research on mental retardation and essential tremor were funded by two NIH R01 awards. Presently, Dr. Higgins is funded by the March of Dimes (Principal Investigator) and the Hartwell Foundation (Co-investigator).

 

 

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