Rare and Orphan Diseases

Host: Jacob R. Bledsoe, MD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.

Host: Peter E. Newburger, MD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.

Host: Frank Cortazar, MD

There are several challenges associated with the management of glomerular diseases like IgA nephropathy and C3 glomerulopathy. But in order to overcome those challenges, we must first have a firm understanding of them. That’s why Dr. Frank Cortazar from the New York Nephrology Vasculitis and Glomerular Center is here to break down those common challenges so we can work to better manage IgA nephropathy and C3 glomerulopathy.

Host: Frank Cortazar, MD

Have you ever heard or thought that IgA nephropathy (IgAN) is only a short-term disease? Or that it’s benign? These are just some of the many common misconceptions surrounding IgAN, which is why Dr. Frank Cortazar from the New York Nephrology Vasculitis and Glomerular Center is here to help debunk these and other prevalent myths.

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: Carl P. Walther, MD

The alternative complement pathway and the lectin pathway are the two pathways that are important in IgA nephropathy (IgAN). So how does the dysregulation of these two pathways impact disease progression, and how might this knowledge help us optimize our approach to treating patients with IgAN? Joining Dr. Charles Turck to answer those and other key questions is nephrology specialist Dr. Carl Walther.

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: Gates B. Colbert, MD

When managing a rare disease like IgA nephropathy (IgAN), it’s essential to keep each individual patient at the center of it all, and this type of approach starts at the diagnostic stage. Joining Dr. Charles Turck to share strategies for providing patient-centered care throughout every step of the journey is Dr. Gates Colbert, Assistant Clinical Professor at Texas A&M College of Medicine.

Host: Peter Buch, MD, FACG, AGAF, FACP

Guest: Brooks D. Cash, MD, AGAF, FACG, FACP, FASGE

Acute colonic pseudo-obstruction, also known as Ogilvie’s syndrome, is a rare form of colonic dilatation that can be serious and life-threatening. To learn more about this disorder, Dr. Peter Buch and Dr. Brooks Cash take a look at risk factors, testing strategies, and treatment options for Ogilvie’s syndrome.

Host: Frederic Rahbari-Oskoui, MD, MSc

This program is no longer availble for credit

This Expert Exchange webcast is designed to help improve clinicians’ ability to apply pharmacologic and non-pharmacologic strategies in the management of patients with ADPKD.

Host: Mario R. Nacinovich, Jr., MSc

Guest: Walter Koroshetz, MD

Amyotrophic lateral sclerosis (ALS) is a rare neurogenerative disease, and organizations including the FDA and NIH are working to accelerate potential therapies. What’s on the horizon for the treatment landscape? Mario Nacinovich joins Dr. Walter Koroshetz, who is the Director of the National Institute of Neurological Disorders and Stroke, to explore these new developments.

Host: Andrew Wilner, MD, Author of "The Locum Life: A Physician's Guide to Locum Tenens"

Guest: Jason Barton, MD, PhD, FRCP(C)

Prosopagnosia, also known as face blindness, is a rare cognitive disorder. Joining Dr. Andrew Wilner to share his insights on this condition is Dr. Jason Barton, a Professor of Neurology, Ophthalmology and Visual Sciences, and Psychology at the University of British Columbia in Vancouver, Canada.