Within the federal government, the focal point for research on neuronal ceroid lipofuscinosis (NCL), or Batten disease, and other neurogenetic disorders is the National Institute of Neurological Disorders and Stroke (NINDS). The NINDS, a part of the National Institutes of Health (NIH), supports and conducts research on the brain and central nervous system. Organizations like Taylor’s Tale, the Batten Disease Support and Research Association (BDSRA) and the Children's Brain Diseases Foundation also provide financial assistance for research.

The search for the genetic cause of NCLs is gathering speed. In September 1995, the International Batten Disease Consortium announced the identification of the gene for the juvenile form of Batten disease. The specific gene, CLN3, located on Chromosome 16, has a deletion, or piece missing. This gene accounts for 73% of all cases of Juvenile NCL. The rest are the result of other defects of the same gene.

Also in 1995, scientists in Finland announced the identification of the gene responsible for the infantile form of Batten disease. The gene, CLN1, is located on Chromosome 1.

In September 1997, scientists at the Robert Wood Johnson Medical School and the Institute for Basic Research, N.Y., announced the identification of the gene for the "classic" Late Infantile form of Batten disease. The gene, CLN2, is located on chromosome 11.

The search for the genetic cause of NCLs is gathering speed. Scientists have also identified the genes responsible for Finnish Late Infantile (CLN5), variant Late Infantile (CLN6), EPMR (CLN8) and Congenital/CTSD (CLN10). Progress continues to be made toward the  identification of the gene for the adult form of Batten disease, also known as Kufs.

Identification of the specific genes for Infantile, Late Infantile, Variant Late Infantile and Juvenile NCL has led to the development of DNA diagnostics, carrier and prenatal tests.

Scientists have discovered that children affected with Infantile and Late Infantile NCL are missing key lysosomal enzymes, Palmitoyl Protein Thioesterase 1 (PPT1) for Infantile NCL and Tripeptidyl Peptidase 1 (TPP1) for Late Infantile NCL. This discovery has led to the development of promising enzyme replacement, stem cell transplantation and gene therapies.

Recent studies have shown a link between the Juvenile form and the body's autoimmune system. Though the link is not yet fully understood, its discovery may lead to a treatment for Juvenile NCL in the future.

There are several ongoing or recently completed Batten disease clinical trials in the United States, and more work is being conducted overseas.