$3.4M grant to boost research into inherited diseases

BAR HARBOR — A research grant from the National Institutes of Health totaling $3,436,466 over four years will enable a Jackson Laboratory research group led by Senior Research Scientist Laura Reinholdt to develop new data resources and mouse models to better understand Mendelian genetic disorders.

Mendelian genetic disorders are diseases and conditions that occur as a consequence of inheriting certain gene variants from each parent. For example, a child with cystic fibrosis has inherited faulty copies of a specific gene from both his mother and father.

Approximately 20 to 30 million Americans are affected by Mendelian genetic disorders such as congenital heart disease, congenital bone diseases, inherited skin diseases, hereditary neurological disorders and hereditary cancers.

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