Genetics and Metabolism (Pediatric & Adult)

The Division of Genetics is comprised of physicians, genetic counselors and other professionals who specialize in human genetics and genomics. We provide clinical genetics services for children and adults.  We also educate medical students, residents, fellows and other learners through the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo.

Our team evaluates patients with a broad range of genetic conditions, many of which are rare disorders. Our healthcare providers collaborate with other specialists and disciplines to provide a multidisciplinary approach.

Our team also supports specialty clinics at Oishei Children’s Hospital (OCH) and other UBMD departments, including:

• Craniofacial Center of Western New York
• Leukodystrophy Care Network Certified Center at OCH
• OCH Maternal Fetal Medicine Center 
• Huntington Disease Center of Excellence
• Cystic Fibrosis Center of Western New York 

We provide diagnostic genetic evaluations for infants and children with known or suspected genetic conditions. We work closely with other pediatric subspecialty groups including: cardiology, pulmonology, nephrology, developmental pediatrics, neonatology and neurology. Common indications for a pediatric genetic evaluation include:

• Birth defects/dysmorphic features
• Hypotonia
• Developmental delay/intellectual disability
• Seizures
• Autism spectrum disorder
• Hearing loss or deafness
• Abnormal growth (e.g. overgrowth, short stature, failure to thrive)
• Teratogenic exposures

Our providers also support pediatric inpatient genetic consultations for infants and children admitted to Oishei Children’s Hospital.

Examples of referrals to our adult program include:

• Hereditary kidney disorders 
• Hereditary ocular disorders
• Intellectual and developmental disabilities
• Connective tissue disorders* (e.g., Marfan syndrome, Ehlers-Danlos syndrome)
• Adult-onset neurological conditions (e.g., CADASIL, ALS, frontotemporal dementia)

• Periodic fever syndromes

*If scheduling an appointment for a hypermobile Ehlers-Danlos syndrome (hEDS) evaluation, we require a copy of a recent echocardiogram.

We provide genetic consultations to individuals who have or may be at risk for an inherited predisposition to cancer. Common indications for referral include:

• Known pathogenic variant in the family (e.g., BRCA2, MSH6)
• Cancer at a younger than average age
• Personal history of or a close relative with pancreatic or ovarian cancer 
• Family history of multiple cancers (e.g., prostate, colon, breast, uterine)

Our genetic counselors also support the Great Lakes Cancer Care Collaborative, providing genetic counseling services related to hereditary cancer risk.

We offer genetic evaluations to individuals who have or may be at risk for a hereditary cardiovascular condition. Common indications for referral include:

• Cardiomyopathies (e.g., hypertrophic, dilated, arrhythmogenic)
• Arrhythmias (e.g., long QT syndrome, Brugada syndrome)
• Familial aortic aneurysms/dissections
• History of unexplained cardiac arrest 
• Familial hypercholesterolemia

Please note: our clinic is currently unable to provide services for the management of genetic metabolic and mitochondrial disorders. We understand the importance of these services and are actively recruiting a qualified specialist in this area. We are committed to resuming these vital services as soon as possible and appreciate your understanding during this period.

Conventus
1001 Main Street
4th Floor
Buffalo, NY 14203

University Commons
1404 Sweet Home Road
Suite 5
Amherst, NY 14228

Office: 716.323.0040
Fax: 716.323.0292