Areas of Expertise

The members of the rare disorders research consortium bring a wide variety of skills to the table.  Through organizing our membership by skill sets, investigators can search for collaborators and solicit expert advice from colleagues knowledgeable in different areas.

Clinical research

Alan Barker, MD

Allison Gregory, MS

Jessica Kushner, MS

Robert D. Steiner, MD

Eye disease

Susan J. Hayflick, MD

Inborn errors of metabolism

Robert D. Steiner, MD

Gene characterization

Cheryl Maslen, PhD

Gene hunting

Susan J. Hayflick, MD 

Cheryl Maslen, PhD

Genetic counseling

Allison Gregory, MS

Jessica Kushner, MS

IRB documentation and compliance

Allison Gregory, MS

Linkage analysis

Susan J. Hayflick, MD

Mapping and positional cloning of disease loci

Susan J. Hayflick, MD

Molecular diagnostic testing: clinical test development

Jessica Kushner, MS

Mouse models of disease

Susan J. Hayflick, MD

Neurological disease

Susan J. Hayflick, MD

Newborn screening

Robert D. Steiner, MD

Patient registry development

Allison Gregory, MS

Pulmonary medicine

Alan Barker, MD

Stem cell therapy

Robert D. Steiner, MD

Study coordination

Allison Gregory, MS

Jessica Kushner, MS

Therapies

Robert D. Steiner, MD

Translational research

Robert D. Steiner, MD