- EP Hicks published an article in an English medical journal describing an English family in which 10 members suffered from perforating ulcers of the feet, shooting pains and deafness.
- Drs. Tocantines and Reimann published their first report on Harvey and Russell Deater and other members of the family.
- D. Denny-Brown published a follow-up report on one of the members of this family, identifying the disease as “hereditary sensory raedicular neuropathy.”
- Drs. Reimann, McKechnie and Stanisavljevic published a follow-up report.
- Various members of the Deater family participated in studies at The National Institutes of Health with Dr. John Whitaker and Dr. Marinos Dalakas
- Dr. Robert Brown drew blood from family members to begin a study at the Cecil B. Day Neuromuscular Lab at Massachusetts General Hospital.
- Deater Foundation, Inc. received non-profit, tax-exempt status in May.
- Dr. Robert Brown (of the Massachusetts General Hospital) clarified the medical plans as a three step process: (1) Linkage; (2) Specific gene location; (3) Protein location.
- In February, there was contract agreement between Deater Foundation, Inc. and the Cecil B. Day Laboratory for Neuromuscular Research with quarterly payments scheduled contingent upon reports from the Lab.
- Dr. Khemissa Bejaoui joined the research team in 1992.
- Dr. Khemissa Bejaoui, Dr. Gordon Shepherd, and Dr. Gilmore O’Niel attend the Deater Family Reunion. Drs. Shepherd and O’Niel drew blood from additional family members who had not been studied before and conducted neurological examinations on a number of family members.
- Dr. Brown reported an excellent relationship with Dr. Garth Nicholson in Australia and anticipated a collaboration in the search for the primary gene defect in HSN 1 patients.
- Dr. Khemissa Bejaoui published a report on the Deater Disease and the HSN 1 factor in Neurology.
- Ethan Segal was hired as a lab assistant to work exclusively on the Deater project (funded by Deater Foundation, Inc. for six months, until he retired from the project).
- Dr. Bejaoui applied for and won a three-year ($35,000) grant from Muscular Dystrophy.
- At the turn of the 21st Century, the method of diagnosis changed when Dr. Garth Nicholson in Australia identified a genetic mutation causing the disease. Very soon after that, Dr. Khemissa Bejaoui independently identified mutations in other patients, including those in the Deater family.
- The mutations on chromosome 9 were slightly different in different families. The gene involved is a known gene, SPTLC1. Many people around the world had already been studying this gene and the enzyme associated with it. Dr. Bejaoui found that the mutations in the gene resulted in reduced enzyme activity and sphingolipid production. This discovery moved the research concerning HSN 1 much closer to the goal of identifying exactly what causes nerve destruction and ultimately, to treatment.
- In early August, two researchers who had collaborated with Dr. Bejaoui arrived in Noxen, PA, to conduct a research study. Beulah and Elwood Womer opened their home as the “research center” for San Francisco Doctor of Pharmacy, Dr. Walter Holleran and Dermatologist Dr. Joachim Fluhr from the former Democratic Republic of Germany (East Germany). They gathered information which they presented the same week at an international conference in New England. They speculate that, because the gene defect in HSN 1 is associated with sphingolipids, and sphingolipids are essential for adequate skin barrier function, it is possible that trauma to the skin may play a part in the destruction of nerves.
- Alexander McCampbell publishes results on first HSAN1 mouse model
- Dr. Florian Eichler joins HSAN1 team at Massachusetts General Hospital
- Massachusetts General Hospital hosts the first HSAN1 Symposium (funded by Deater Foundation) where top researchers from around the world meet to discuss their research as it pertains to the disease.
- Dr. Thorston Hornemann publishes results on his findings that HSAN1 may be caused by the accumulation of two atypical sphingolipids, called desoxysphingolipids
- Dr. Eichler publishes results on desoxysphingolipids found in HSAN1 mouse model
- Second HSAN1 Symposium is held at MGH
- Dr. Penno (along with Drs. Brown, Eichler, and Hornemann) publish results on finding elevated deoxysphingoid bases (DSBs) levels in three groups of HSAN1 patients with different mutations.
- One-year HSAN1 human pilot study is scheduled to begin
- L-serine clinical trial: Two-year, double-blind, placebo-controlled trial studying efficacy of L-serine in HSAN1 patients started (18 patients enrolled)
- 3rd International HSAN1 Symposium held in Boston, MA (Nov. 14-16, 2013)
- Publication by Fridman et al. in April 2015 in Muscle and Nerve “Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1” including survey originally devised and distributed by DFI along with follow-up survey, nerve conduction, autonomic testing, and skin biopsy results devised and carried out by various researchers.
- 4th International HSAN1 Symposium held in Boston, MA (April 18-21, 2017)
- Possible link between HSAN1 and Macular Telangiectasia Type 2 (MacTel) discovered.
- Advancements in gene silencing research underway in Dr. Brown’s lab at UMASS.
- Results of the L-serine clinical trial published by Fridman et al. in Neurology “Randomized Trial of L-serine in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1”.
- 5th International HSAN1 Symposium slated to be held in the Spring (virtual/hybrid format)