Consortium for Rare Disease Research

Rare diseases are often complex, and patients require multidisciplinary care teams that address their physical, and psychosocial needs. Patients with rare diseases also deserve access to timely diagnosis and treatment.

That’s where the McGill University Health Centre’s (MUHC) Consortium for Rare Disease Research can help. The MUHC has diverse clinical and scientific expertise in pediatric and adult rare diseases, and can follow patients from very early diagnosis in infancy well into adulthood. Together, dedicated health care professionals work together to provide patient-oriented, collaborative care for people with rare diseases, uniting specialties to better the care of patients.

At this time, the Rare Disease Consortium only accepts internal referrals. However, our members are working together to accept external referrals shortly.

In the meantime, please refer to the MCH and MUHC Appointment Referral Centre should you require access to a specialist.

Our team is made up of over 75 physicians across the McGill University Health Centre, with specialty training and expertise.

We help with the treatment and management of several very rare and complex diseases, including the following:

Neurology: amyotrophic lateral sclerosis, ataxia, brain malformations, developmental neurogenetics, epilepsy, hereditary spastic paraplegia, leukodystrophies, movement disorders, myasthenia Gravis, neuropsychiatric genomics, oculopharyngeal muscular dystrophy, spinal muscular atrophy.

Ophthalmology: Leber congenital amaurosis, retinitis pigmentosa, retinopatihes.

Respirology: alpha1-anti-trypsin deficiency, bronchiectasis, cystic fibrosis, Duchenne Muscular Dystrophy, lymphangioleiomyomatosis (LAM), primary ciliary dyskinesia, pulmonary fibrosis.

Cardiology: aortopathy, familial hypercholesterolemia and dyslipidemia, arrhythmia/channelopathies, congenital cardiac malformations.

Genetics and metabolic: B12 metabolism, lysosomal storage disorders, mitochondrial disorders, peroxisome disorders.

Hematology: hemoglobinopathies, hemophilias, inherited bone marrow failure syndromes, thrombosis.

Immunologic: primary immunodeficiencies, autoinflammatory syndromes.

Musculoskeletal and rheumatologic: bone tumors, osteogenesis imperfect, sarcoma.

Dermatologic: ectodermal dysplasia.

Oncology: brain tumors, familial/hereditary cancers, neuroendocrine tumors, tuberous sclerosis.

Nephrology: focal segmental glomerulosclerosis, glomerulonephritis, polycystic kidney disease.