Dr Frank McCormack is a Professor of Medicine and Director of the Division of Pulmonary, Critical Care & Sleep Medicine at the University of Cincinnati. Professor McCormack also leads a research group which investigates pulmonary innate immunity and the mechanisms of pulmonary fibrosis. In addition, Professor McCormack’s clinical interests focus on cystic lung diseases, such as lymphangioleiomyomatosis (LAM).
LAM is caused by mutations in the TSC1 or TSC2 genes and occurs almost exclusively in women, either sporadically or in association with tuberous sclerosis complex (Sato et al., 2002; Henske & McCormack, 2012). LAM and BHD syndrome can present with similar pathophysiology, which has been discussed in a previous blog post, and many findings in the LAM field may be relevant to BHD research.
As an expert in treating patients with cystic lung disease, Professor McCormack is also the Scientific Director and Chairman of the Scientific Advisory Board of The LAM Foundation. The LAM Foundation was founded in 1995 with the aim to find treatments for, and ultimately cure, LAM through advocacy and research funding. The Foundation has a network of approved LAM Clinics in the United States, which also specialise in the lung symptoms of BHD. Please go to BHDSyndrome.org for more information regarding these BHD Pulmonary Centres.
Furthermore, the LAM Foundation has provided funding and recruitment support for clinical trials for LAM treatments. In particular, the Foundation played a key role in the Multicenter International LAM Efficacy of Sirolimus (MILES) trial, which was co-directed by Professor McCormack. The results of this trial indicate that sirolimus, which is also known as rapamycin, may be useful as a therapy for LAM (McCormack et al., 2011). To learn more about clinical trials in general, and those that are applicable to individuals with BHD syndrome, please click here.
Much like our upcoming BHD symposium, the LAM Foundation also organises an annual LAMposium, which has similar aims to connect patients, families, clinicians and scientists for both information and support. See our Conferences and Events page for more details regarding these and other relevant meetings. The importance of such symposia is aptly demonstrated by Professor McCormack’s comprehensive presentation at the Second BHD Symposium, which was held in Washington DC, USA in 2010. This presentation (which can be accessed here) introduced LAM and the LAM Foundation, as well as discussing potential synergies with BHD.
For more information regarding LAM research, the LAM Foundation and BHD please view our video interview with Professor McCormack, which was filmed at the Fourth BHD Symposium in Cincinnati, USA in 2012. For further reading, the following reference list also highlights the work of Professor McCormack:
- Crouch E, Nikolaidis N, McCormack FX, McDonald B, Allen K, Rynkiewicz MJ, Cafarella TM, White M, Lewnard K, Leymarie N, Zaia J, Seaton BA, Hartshorn KL. Mutagenesis of surfactant protein D informed by evolution and x-ray crystallography enhances defenses against influenza A virus in vivo. J Biol Chem. 2011 Nov 25;286(47):40681-92. doi: 10.1074/jbc.M111.300673.
- Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics. 2010 Oct;41(5):199-208. doi: 10.1055/s-0030-1269906.
- Henske EP, McCormack FX. Lymphangioleiomyomatosis – a wolf in sheep’s clothing. J Clin Invest. 2012 Nov 1;122(11):3807-16. doi: 10.1172/JCI58709.
- McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM, Brown KK, Lynch JP 3rd, Goldberg HJ, Young LR, Kinder BW, Downey GP, Sullivan EJ, Colby TV, McKay RT, Cohen MM, Korbee L, Taveira-DaSilva AM, Lee HS, Krischer JP, Trapnell BC; National Institutes of Health Rare Lung Diseases Consortium; MILES Trial Group. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011 Apr 28;364(17):1595-606. doi: 10.1056/NEJMoa1100391.
- Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O. Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. J Hum Genet. 2002;47(1):20-8. PMID: 11829138
- Wu H, Suzuki T, Carey B, Trapnell BC, McCormack FX. Keratinocyte growth factor augments pulmonary innate immunity through epithelium-driven, GM-CSF-dependent paracrine activation of alveolar macrophages. J Biol Chem. 2011 Apr 29;286(17):14932-40. doi: 10.1074/jbc.M110.182170.
- Young LR, Gulleman PM, Bridges JP, Weaver TE, Deutsch GH, Blackwell TS, McCormack FX. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med. 2012 Nov 15;186(10):1014-24. doi: 10.1164/rccm.201207-1206OC.
- Young LR, Vandyke R, Gulleman PM, Inoue Y, Brown KK, Schmidt LS, Linehan WM, Hajjar F, Kinder BW, Trapnell BC, Bissler JJ, Franz DN, McCormack FX. Serum vascular endothelial growth factor-D prospectively distinguishes lymphangioleiomyomatosis from other diseases. Chest. 2010 Sep;138(3):674-81. doi: 10.1378/chest.10-0573.
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.