Bardet-Biedl syndrome (BBS)

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Areas that research this condition

Doctors who treat this condition

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Displaying 1-10 out of 11 doctors available

  1. Bridget K. Biggs, Ph.D., L.P.

    Bridget K. Biggs, Ph.D., L.P.

    1. Psychologist
    1. Rochester, MN
    Areas of focus:

    Psychological assessment, Chronic pain, Anxiety disorder, Generalized anxiety disorder, Weight, Bardet-Biedl syndrome

  2. Carl H. Cramer, II, M.D.

    Carl H. Cramer, II, M.D.

    1. Pediatrician
    2. Transplant Nephrologist
    3. Pediatric Nephrologist
    1. Rochester, MN
    Areas of focus:

    Kidney transplant, Hemodialysis, Dialysis, Peritoneal dialysis, Tuberous sclerosis, Chronic kidney disease, End-stage r...enal disease, Urinary tract infection, Hydronephrosis, Kidney angiomyolipoma, High blood pressure, Polycystic kidney disease, Acute kidney inury, Glomerulonephritis, Kidney infection, IgA nephropathy, Focal segmental glomerulosclerosis, Renal artery stenosis, High blood pressure in children, Secondary high blood pressure, Glomerular disease, Nail disease, Blood in urine, Kidney cyst, Kidney failure, Post-transplant hypertension, Kidney injury, Lupus nephritis, Renal tubular acidosis, Renovascular disease, Minimal change disease, Membranoproliferative glomerulonephritis, Medullary sponge kidney, Nephrotic syndrome, Protein in urine, Congenital kidney disorder, Childhood nephrotic syndrome, Single kidney, Horseshoe kidney, Shrinking kidney, Multicystic kidney dysplasia, Postural proteinuria, Nephritis, Malignant hypertension, Hereditary nephritis, Thin basement membrane disease, Renovascular hypertension, Interstitial nephritis, Bardet-Biedl syndrome

  3. Raymond Iezzi, Jr., M.D.

    Raymond Iezzi, Jr., M.D.

    1. Ophthalmologist
    1. Rochester, MN
    Areas of focus:

    Retinal disease, Vitreous detachment, Bardet-Biedl syndrome

  4. Afton Koball, Ph.D., L.P.

    Afton Koball, Ph.D., L.P.

    1. Psychologist
    1. Rochester, MN
    Areas of focus:

    Bardet-Biedl syndrome

  5. Seema Kumar, M.D.

    Seema Kumar, M.D.

    1. Pediatrician
    2. Pediatric Endocrinologist
    1. Rochester, MN
    Areas of focus:

    Type 1 diabetes in children, Congenital adrenal hyperplasia, Type 2 diabetes in children, Childhood obesity, Bardet-Bie...dl syndrome

  6. Brendan C. Lanpher, M.D.

    Brendan C. Lanpher, M.D.

    1. Medical Geneticist
    1. Rochester, MN
    Areas of focus:

    Genetic disorder, Neurodevelopmental disorder, Metabolic disorders, Vascular malformation, Bardet-Biedl syndrome

  7. Kalpana Muthusamy, M.B.B.S., M.D.

    Kalpana Muthusamy, M.B.B.S., M.D.

    1. Endocrinologist
    1. Rochester, MN
    Areas of focus:

    Diabetes, Obesity, Prader-Willi syndrome, Bardet-Biedl syndrome

  8. Amy E. Rabatin, M.D.

    Amy E. Rabatin, M.D.

    1. Pediatric Physiatrist
    1. Rochester, MN
    Areas of focus:

    Botox injection, Spinal cord rehabilitation, Brain rehabilitation, Cancer rehabilitation, Spasticity therapy, Sport spe...cific rehabilitation, Amputation rehabilitation, Exercise therapy, Neurological rehabilitation, Ultrasound, Pediatric rehabilitation, Joint injection, Ultrasound-guided injection, Inpatient rehabilitation , Outpatient clinical consultation, Intramuscular injection, Joint examination, Ultrasound-guided musculoskeletal injection, Musculoskeletal exam, Physical examination, Injection, Cancer, Neuromuscular disorder, Concussion, Brain tumor, Sports injury, Back pain, Traumatic brain injury, Spinal muscular atrophy, Spinal cord injury, Muscular dystrophy, Plagiocephaly, Brachial plexus injury, Pediatric brain tumor, Spina bifida, Gait disturbance, Cerebral palsy, Spasticity, Joint hypermobility, Neurodevelopmental disorder, Arthritis, Dystonia, Charcot-Marie-Tooth disease, Angelman syndrome, Foot drop, Flatfeet, In-toeing, Neurologic muscle weakness, Neuropathy, Autoimmune neurological disorder, Inflammatory arthritis, Muscle weakness, Functional limitation, Sacral agenesis, Hemiparesis, Gait unsteadiness, Acquired brain disorder, Pediatric trauma, Juvenile arthritis, Contracture, Pediatric hip disorders, Brain cancer, Hemiplegia, Bardet-Biedl syndrome

  9. Lisa A. Schimmenti, M.D.

    Lisa A. Schimmenti, M.D.

    1. Pediatrician
    2. Medical Geneticist
    1. Rochester, MN
    Areas of focus:

    Genetic testing, Newborn screening, Genetic disorder, Retinitis pigmentosa, Hearing loss, Eye problem, Hearing loss in ...children, Bardet-Biedl syndrome

  10. Brittni A. Scruggs, M.D., Ph.D.

    Brittni A. Scruggs, M.D., Ph.D.

    1. Ophthalmologist
    1. Rochester, MN
    Areas of focus:

    Photodynamic therapy, Genetic counseling, Optical coherence tomography, Visual electrophysiology, Laser eye surgery, Ge...ne therapy, Retinal surgery, Retinal exam, Anti-VEGF injection therapy, Lens replacement surgery, Retinal angiogram, Vitrectomy, Eye injection, Scleral buckling, Pediatric trauma, Diabetic retinopathy, Retinal degeneration, Retinal detachment, Retinal disease, Retinitis pigmentosa, Retinal vein occlusion, Epiretinal membrane, Macular hole, Retinal artery occlusion, Genetic eye disease, Macular degeneration, Eye injury, Stickler syndrome, Eye floaters, Eye infection, Vitreous detachment, Retinopathy of prematurity, Stargardt's disease, Macular edema, Vitreous hemorrhage, Inherited retinal disorders, Best vitelliform macular dystrophy, Bardet-Biedl syndrome

Research

Scientists at Mayo Clinic do research, including clinical trials, to improve early diagnosis and treatment of genetic conditions, such as Bardet-Biedl syndrome. Mayo Clinic experts do research in ophthalmology, pediatric and adult endocrinology, clinical genomics, and pediatric nephrology.

Mayo Clinic is recognized for outstanding contributions to research in genetics and genomics. Patients may have opportunities to participate in genetic research studies to improve care. Mayo's Center for Individualized Medicine is involved in translating the latest scientific advances to clinical care.

Publications

See a list of publications about Bardet-Biedl syndrome by Mayo Clinic doctors on PubMed, a service of the National Library of Medicine.

Research Profiles

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By Mayo Clinic Staff

Bardet-Biedl syndrome (BBS) care at Mayo Clinic

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Diagnosis & treatmentCare at Mayo Clinic
July 25, 2025
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Bardet-Biedl syndrome (BBS)

Research: It's all about patients

[MUSIC PLAYING]

Joseph Sirven, M.D., Professor of Neurology, Mayo Clinic: Mayo's mission is about the patient. The patient comes first. So the mission and research here is to advance how we can best help the patient, how to make sure the patient comes first in care. So in many ways, it's a cycle. It can start with as simple as an idea worked on in a laboratory, brought to the patient bedside, and if everything goes right — and let's say it's helpful or beneficial — then brought on as a standard approach. And I think that is one of the unique characteristics of Mayo's approach to research — that patient-centeredness — that really helps to put it in its own spotlight.