medical neurogenetics

Welcome

Medical Neurogenetics provides Molecular and Metabolic genetic testing and consultation for a variety of inherited disorders affecting children and adults.

Dr. John Shoffner and Dr. Keith Hyland have spent their careers focusing on neurogenetic diseases. Among their many clinical and research interests, Dr. Shoffner specializes in mitochondrial diseases and Dr. Hyland specializes in disorders affecting neurotransmitters.

Laboratory testing includes organic acid and amino acid analysis, cerebrospinal fluid neurochemistry studies, and complex biochemical and genetic analyses for mitochondrial disorders, fatty acid oxidation defects and many other disorders affecting cellular energetics.

Demographic Data


Medical Neurogenetics is compiling basic demographic data on individuals diagnosed with various mitochondrial and metabolic disorders. The information gathered will allow us to determine who to contact for possible inclusion into upcoming clinical and treatment trials. Click on the following link to submit your demographic data through a secure web page. Demographic Data Submission Form.


News


medical/scientific
PATIENT CLINICAL APPOINTMENTS
Maureen Starnes, CPNP has joined our group and will be scheduling appointments for routine follow up appointments. She has a special interest in patients with mitochondrial disease. Her experience is extensive and includes the neonatal intensive care unit and Pediatric Neurology (Emory Children’s Center). Appointments will allow us to follow patients, review testing and records, assess the patients relative to the diagnostic criteria for mitochondrial disease, obtain appropriate follow up testing, answer questions, and inform patients and families about our research progress with new medications for treatment of mitochondrial disease. Please contact our Scheduling team at 678-225-0222 or email them at AppointmentSchedulingInformation@mnglab.com to schedule follow up appointments with Maureen Starnes, CPNP.

Volunteers Needed for Gulf War Syndrome Study
We are conducting a Department of Defense-funded study to assess mitochondrial defects in veterans diagnosed with Gulf War Syndrome. Please see the information below for details and contact us if you would like to be a participant in this study.
Click here for more details.

• Mitochondrial Diseases - The mitochondria convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics due to complex inheritance patterns and due to the importance to a large array of cellular functions.

• Neurotransmitter Diseases - Neurotransmitters are chemicals that are used to relay, amplify and modulate electrical signals between a neuron and another cell. Appropriate testing is critical to diagnosis and treatment of patients with these diseases.

• Metabolic Diseases - Medical Neurogenetics has nationally recognized expertise on inherited metabolic disorders that impact mitochondrial function.
announcements

Top 10 Most Significant Autism Research Achievements of 2009.

Research published by Medical Neurogenetics researchers in the Journal of Child Neurology was named in the Top 10 Most Significant Autism Research Achievements of 2009 by Autism Speaks.

More details


Seven of our research projects were presented at the 2010 American Academy of Neurology meeting in Toronto.

Presentations are available here.

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