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.

 

Acute myeloid leukemia (AML)

Michael C. Heinrich, MD

Maureen Hoatlin, PhD, MBA

 

Age related macular degeneration (AMD)

Grazyna Adamus, PhD

Binoy Appukuttan, PhD

Christina Flaxel, MD

Tim Stout, MD, PhD, MBA

David J. Wilson, MD

 

Agenesis of corpus callosum (ACC)

Joseph Pinter, MD

 

Alzheimer's disease (AD)

Robert Duvoisin, PhD

Susan J. Hayflick, MD

P. Hemachandra Reddy, PhD

Shawn Westaway, PhD

Randall L. Woltjer, MD, PhD

 

Asthma

Xuehong Liu, PhD

 

Bicuspid aortic valve (BAV) / aortic coarctation

Craig S. Broberg, MD

Jessica D. Kushner, MS, CGC

Cheryl Maslen, PhD 

 

Biomarkers

Amira Al-Uzri, MD

Susan J. Hayflick, MD

Maureen Hoatlin, PhD, MBA

Jean-Baptiste Roullet, PhD

 

Bile acid synthesis defects

Yasemen Eroglu, MD 

 

Cancer cytogenetics

Susan B. Olson, PhD

 

Cancer genes / genetics (disorders)

Kelly Hamman, MS, CGC

Maureen Hoatlin, PhD, MBA

Sue Richards, PhD 

 

Cardiac arrhythmia

Alan Barker, MD 

Susan J. Hayflick, MD

Shawn Westaway, PhD

 

Cerebellar disorders

Joseph Pinter, MD

 

Cholesterol metabolism

Andrea DeBarber, PhD

Robert D. Steiner, MD

 

Choroidal atrophies

Richard Weleber, MD

 

Chronic obstructive pulmonary disease

Kelvin D. MacDonald, MD, RRT

Xuehong Liu, PhD

 

Clinical trials

Amira Al-Uzri, MD

Grover Bagby, MD

Alan Barker, MD

Mark S. Chesnutt, MD

Christopher Corless, MD, PhD

Robert Duvoisin, PhD

David Ellison, MD

Yasemen Eroglu, MD

Erika Finanger-Hedderick, MD

Christina Flaxel, MD

Melanie Gillingham, PhD

Allison Gregory, MS, CGC

Cary Harding, MD

Michael Harris, PhD

Michael C. Heinrich, MD 

Sara B. Johnsen, MS, CGC

Thomas Koch, MD

Jeff Kraakevik, MD

Jessica D. Kushner, MS, CGC

Ariel Lopez-Chavez, MD

Kelvin D. MacDonald, MD, RRT 

Suman Malempati, MD

Cheryl Maslen, PhD

Mark Pennesi, MD, PhD 

Carrie Anne Phillipi, MD, PhD

Mark D. Reller, MD

Jean-Baptiste Roullet, PhD

Christopher Ryan, MD

William Skach, MD

Robert D. Steiner, MD

David J. Wilson, MD

 

Congenital heart defects (CHD)

Craig S. Broberg, MD

Jessica D. Kushner, MS, CGC

Cheryl Maslen, PhD

Shoukhrat Mitalipov, PhD

Kevin Winthrop, MD, MPH

 

Constitutional chromosome syndromes

Susan B. Olson, PhD

 

Coronary heart disease non-syndromic (CHD)

Cynthia Morris, PhD, MPH

 

Diabetes

Jonathan Lindner, MD

 

DNA damage response

Maureen Hoatlin, PhD, MBA

R. Stephen Lloyd, PhD

Susan B. Olson, PhD

Mitchell S. Turker, PhD, JD

 

Down syndrome

Cheryl Maslen, PhD

Joseph Pinter, MD

 

Epidemiology

Shoukhrat Mitalipov, PhD

Cynthia Morris, PhD, MPH

Kevin Winthrop, MD, MPH

 

Epigenetics

Shoukhrat Mitalipov, PhD

 

Eye disorders

Grazyna Adamus, PhD

Binoy Appukuttan, PhD

Christina Flaxel, MD

Susan J. Hayflick, MD

Sue Richards, PhD

Jim Rosenbaum, MD

Holly Rosenzweig, PhD

Tim Stout, MD, PhD, MBA

David J. Wilson, MD

Zili Zhang, MD, PhD

 

Fatty acid oxidation defects (FAOD)

Melanie Gillingham, PhD

Cary Harding, MD

Jonathan Purnell, MD

 

Gene characterization

Maureen Hoatlin, PhD, MBA

Cheryl Maslen, PhD

 

Gene hunting

Susan J. Hayflick, MD 

Maureen Hoatlin, PhD, MBA

Cheryl Maslen, PhD

 

Gene therapy / transfer

Markus Grompe, MD

Cary Harding, MD

Maureen Hoatlin, PhD, MBA

Sergio Ojeda, DVM

Tim Stout, MD, PhD, MBA

 

Genetic counseling

Allison Gregory, MS, CGC

Jessica D. Kushner, MS, CGC

 

Genetic counseling in infertility

Cori Feist, MS, CGC

Gwen Fraley, MS, CGC

Allison Gregory, MS, CGC

Kory Keller, MS, CGC

 

Genetics

Amira Al-Uzri, MD

Kelly Hamman, MS, CGC

Kory Keller, MS

Shawn Westaway, PhD

 

Genomic instability syndromes

Maureen Hoatlin, PhD, MBA

Susan B. Olson, PhD

 

GenTAC registry

Jessica D. Kushner, MS, CGC

 

Growth hormone (GH) receptor mutations and growth failure

Peter Rotwein, MD

 

Hemojuvelin (HJV)

Peter Rotwein, MD

 

Imaging

Daniel Guillaume, MD, MSC 

Jonathan Lindner, MD

Mark Pennesi, MD, PhD

Jospeh Pinter, MD

David J. Wilson, MD

 

Inborn errors of metabolism (IEM)

Markus Grompe, MD

Kelly Hamman, MS, CGC

Cary Harding, MD

Robert D. Steiner, MD

 

Inborn renal disease

Amira Al-Uzri, MD 

  

Ion channelopathies

William Skach, MD

 

IRB documentation and compliance

Allison Gregory, MS, CGC

 

Limb defects

H. Scott Stadler, PhD

 

Linkage analysis

Susan J. Hayflick, MD

 

Lipid disorders

Robert D. Steiner, MD

  

Mapping and positional cloning of disease loci

Susan J. Hayflick, MD

 

Mast cell neoplasms

Michael C. Heinrich, MD

 

Metabolic disorders

Sue Richards, PhD

 

Metabolism

Peter Gillespie, PhD

Markus Grompe, MD

Cary Harding, MD

Eric Orwoll, MD

Jonathan Purnell, MD

Jean-Baptiste Roullet, PhD

Robert D. Steiner, MD

 

Molecular diagnostic testing: clinical test development

Jessica D. Kushner, MS, CGC

 

Mouse models

David Ellison, MD

Cary Harding, MD 

Susan J. Hayflick, MD

William Horton, MD 

Vivian Hwa, PhD

Charles Keller, MD, FAAP 

Kelvin D. MacDonald, MD, RRT 

Jodi McBride, PhD 

Mark Pennesi, MD, PhD 

P. Hemachandra Reddy, PhD 

Jean-Baptiste Roullet, PhD

Ronen Schweitzer, PhD 

H. Scott Stadler, PhD

Mitchell S. Turker, PhD, JD 

 

Neurological disease

Susan J. Hayflick, MD

 

Newborn screening program

Robert D. Steiner, MD

 

Ocular Cicatricial Pemphigoid

Jim Rosenbaum, MD

 

Onchocerciasis

Kevin Winthrop, MD, MPH

 

Ophthalmic genetic disorders

Sara B. Johnsen, MS, CGC

 

Orphan cancers

Maureen Hoatlin, PhD, MBA

 

Osteoporosis

Robina Ingram-Rich, RN, MS, MPH

 

Osteosarcoma / osteogenic sarcoma

Wei Huang, PhD

Charles Keller, MD, FAAP

 

Patient registry development

Allison Gregory, MS, CGC

 

Pediatric retinal vasculopathic disease

Tim Stout, MD, PhD, MBA

 

Pre-implantation genetic diagnosis (PGD / PIGD) / embryo screening

Gwen Fraley, MS, CGC

 

Prenatal diagnosis of rare genetic disorders

Cori Feist, MS, CGC

 

Protein folding disorders

David Ellison, MD

William Skach, MD

 

Proteins

Randall L. Woltjer, MD, PhD

 

Pulmonary medicine

Alan Barker, MD

 

Rare bleeding disorders

Robina Ingram-Rich, RN, MS, MPH

 

Rare cancers

Maureen Hoatlin, PhD, MBA

 

Rare disease epidemiology

Cynthia Morris, PhD, MPH

 

Rare disease informatics

Aaron Cohen, MD, MS

Shawn Westaway, PhD

 

Rare disease testing

Sue Richards, PhD

 

Rare genetic disorders

Maureen Hoatlin, PhD, MBA

 

Rare skin cancer

R. Stephen Lloyd, PhD

 

Rhabdomysarcoma

Charles Keller, MD, FAAP

Suman Malempati, MD

 

Skeletal dysplasias

William Horton, MD

Kory Keller, MS

 

Spina bifida

Daniel Guillaume, MD, MSC

 

Stem cells

Grover Bagby, MD

Daniel Guillaume, MD, MSC

Cary Harding, MD

Thomas Koch, MD

Shoukhrat Mitalipov, PhD

Jean-Baptiste Roullet, PhD

Robert D. Steiner, MD

Qingshuo Zhang, MD, PhD

 

Sterol disorders

Robert D. Steiner, MD

 

Study coordination

Allison Gregory, MS, CGC

Jessica D. Kushner, MS, CGC

 

Therapies

Robert D. Steiner, MD

 

Translational research

Maureen Hoatlin, PhD, MBA

Robert D. Steiner, MD

 

Uveitis

Grazyna Adamus, PhD

Jim Rosenbaum, MD

Holly Rosenzweig, PhD

Zili Zhang, MD, PhD