Genetics and Metabolism (Pediatric & Adult)

The Division of Genetics consists of physicians, nurse practitioners, nutritionists, genetic counselors, and researchers, who specialize in human genetics and genomics. We evaluate a variety of patients and their families for the diagnosis and management of genetic and metabolic conditions.  Many of these conditions are rare disorders. Our healthcare providers collaborate with other specialists and disciplines to provide a multidisciplinary approach. All physicians are certified with the American Board of Medical Genetics and Genomics, and all counselors are certified with the American Board of Genetic Counselors. 

As genetics is a rapidly changing field, our team works to integrate new technologies, research and treatments in the clinical care of patients. The genetic and genomic tools for diagnosing genetic conditions have improved tremendously in recent years. Genetics and Genomics Medicine is a medical discipline that uses information about an individual’s genetic make-up (DNA) to help diagnose disease and facilitate personalized treatment and clinical care. Just like a spelling error can change the meaning of a sentence, a change in the DNA can miscommunicate instructions to the body. By uncovering genetic differences in an individual, healthcare professionals aim to improve patient outcomes and quality of life.  Combining these technologies with our highly skilled physicians and team members, we provide quality care for patients and families impacted by genetic disease. If you wish to book an appointment in our Genetics clinic, please call 716.323.0040. Please fax supporting documentation for all referrals to 716.323.0292.

Dysmorphology Clinic: Many genetic disorders and syndromes are characterized by specific patterns of physical and developmental differences. The dysmorphologist aims to diagnose genetic conditions clinically, confirm diagnoses with genetic testing when necessary, and coordinate care of affected patients. We evaluate patients with birth defects, intellectual disability, autism, chromosomal disorders, neurocutaneous disorders, connective tissue disorders, skeletal dysplasias, teratogenic exposures, and other hereditary conditions. Our dysmorphologist, Dr. Laurie Sadler, has particular expertise in craniofacial disorders and Williams syndrome.

Metabolic Clinic: Our group works closely with individuals diagnosed or at risk for an inborn error of metabolism. We are a regional center of the New York State Newborn Screen Program. We evaluate patients who are identified on the New York State Newborn Screen and provide risk assessment, confirmatory testing and management. Once established, our team provides long-term care and case management for this patient population. Our registered dietitian provides nutrition counseling and dietary guidance. Our metabolic geneticists have decades of experience in the management and care of this patient population. Our Division is also a site for New York State Newborn Screening Long-Term Follow-up Study.

Pediatric Genetics: We work with children who are suspected, or have been diagnosed, with a genetic condition. Our patients may be referred for congenital differences, abnormal chromosome tests, developmental delays, failure to thrive, autism, or other findings etc.

Adult Genetics: While many genetic conditions manifest in childhood, multiple genetic conditions do not present until adulthood and/or are not recognized until later in life. We see a variety of adult patients diagnosed with or at risk for genetic disease.

Inpatient Consults: Our physicians provide inpatient consults for newborns and children admitted to Oishei Children’s Hospital who are suspected to have, or be at risk for, a genetic or metabolic condition. We work collaboratively with hospital physicians and healthcare providers to expedite diagnosis and facilitate management for this patient population.

Mitochondrial Disease Clinic: Mitochondria are tiny organelles inside a cell, present in almost every cell in our body. They are the “powerhouses” and provide the energy required by a cell. When mitochondria are not working properly, the cell does not have enough energy and may become injured. As a result, people may become sick and have different signs and symptoms. Individuals with mitochondrial disease may have difficulties with their brain, vision, hearing, heart or muscles.

Taosheng Huang, MD, PhD, is a world expert and a highly experienced physician-scientist in mitochondrial medicine. The focus of the UBMD Pediatrics Mitochondrial Program will be to integrate clinical service and research to improve the care of patients. Our team works closely with non-profit groups such as the Hadley Jo Foundation and parent advocates to forward the research into the treatment of mitochondrial disease.

Cardiovascular Genetics: Multiple forms of cardiac disease can be caused by inherited genetic changes. These diseases include hypertrophic cardiomyopathy, dilated cardiomyopathy, aortopathy, and arrythmias. Identification of the underlying genetic cause aids to identify at-risk individuals who would benefit from cardiology surveillance and/or intervention. We work with both affected individuals and unaffected individuals at-risk who have a family history of cardiac disease to help identify a potential genetic cause.

Hereditary Cancer Program: The majority of cancer are not hereditary.  However, a subset of cancer are inheritable. These genetic changes place individuals and their families at an increased lifetime risk of developing cancer. The Hereditary Cancer Program provides services for individuals diagnosed with cancer in addition to unaffected individuals with a family history of cancer. Molecular genetic diagnosis may allow for the implementation of preventive measures for at-risk individuals, and personalized treatment for those diagnosed with certain types of cancer.

Huntington’s Disease Clinic: Huntington’s Disease (HD) is a rare, inherited condition that causes progressive breakdown of nerve cells in the brain. Symptoms of HD, which are typically first noticed between ages 30 and 50 years, include uncontrolled movements, emotional problems, and loss of cognitive abilities. In conjunction with a movement disorder neurologist and a social worker from UBMD Neurology, our genetic counselors staff a Huntington’s Disease Clinic. This clinic offers neurologic care to individuals diagnosed with HD and predictive genetic testing for individuals with a family history of HD. If you wish to make an appointment with the Huntington’s Disease Clinic, please call 716.859.7499.

Preconception Genetic Counseling: Deciding to start a family can be an exciting time. For those who have a family history of a genetic condition or are personally affected with a genetic condition, the excitement may be impacted by concerns surrounding health outcomes. Our genetic counselors provide risk assessment and counseling to individuals and couples, providing them with the information that allows for making informed decisions about future family planning.

Research: In addition to his clinical service for UBMD Pediatrics, Dr. Huang also works with Dr. Jesse Slone, in a highly productive research group studying the underlying causes of genetic diseases. His group places a special emphasis on mitochondrial diseases, which are a common source of metabolic disorders in children. The ultimate goal of this research is to develop treatments for these rare mitochondrial conditions, while also translating these discoveries to more common conditions (for more details, please visit Dr. Huang’s faculty page). Dr. Huang’s research group has published over 120 papers on a variety of subjects, with several of his recent papers ranked in the top 10 science stories in 2016 and 2019 by the journals Nature and Science.

Conventus
1001 Main Street
4th Floor
Buffalo, NY 14203

Office: 716.323.0040
Fax: 716.323.0292