patient overview for genetic medicine clinic

Help for undiagnosed disease in Huntsville, Alabama and around the world

 

Why might I or a family member want to be a patient at the The Smith Family Clinic for Genomic Medicine?

You or your family member may have a medical condition that has eluded diagnosis despite considerable effort, and your physician believes that your condition may have an underlying genetic cause. In some cases whole genome sequencing may be a useful tool to find the answer to the most puzzling questions. Using this new technology to achieve a diagnosis is the focus of The Smith Family Clinic for Genomic Medicine on the campus of HudsonAlpha Institute for Biotechnology

 

How does an individual get accepted as a patient at The Smith Family Clinic for Genomic Medicine?

Patients can be referred by their physician or contact the clinic directly to start the process. The clinic can be reached by calling 256.327.9640 or emailing info@smithfamilyclinic.org. Before an appointment can be scheduled, we will need to gather some important information from the patient and their previous medical record. This information will be reviewed by the clinic team, and potential patients will be notified about appointment status.

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If you are seeking help for a rare disease, below is the list of organizations that are members of the National Organization for Rare Disorders (NORD). If the disease or advocacy group you are interested in is not on the list provided, feel free to contact us cshaw@hudsonalpha.org to ask if we are familiar with the disease/organization of interest to you.

Achalasia

Martin Mueller IV Achalasia Awareness Foundation

Acid Maltese Deficiency

Acid Maltase Deficiency Association (AMDA)

Acromegaly

Acromegaly Community, Inc.

Adult Polyglucosan Body Disease

Adult Polyglucosan Body Disease Research Foundation

APBD Research Foundation

AKU

AKU Society of North America

Adrenal Diseases

National Adrenal Diseases Foundation

Alagille Syndrome

Alagille Syndrome Alliance

Albinism

National Organization for Albinism and Hypopigmentation, NOAH

Alopecia Areata

National Alopecia Areata Foundation

Alpha 1

Alpha 1 Association

Alport Syndrome

Alport Syndrome Foundation

Alternating Hemiplegia of Childhood

Alternating Hemiplegia of Childhood Foundation

Cure AHC

Amyloid Lateral Sclerosis

ALS Association-Greater Philadelphia Chapter

Les Turner ALS Foundation, Ltd.

ALS Association

Amyloidosis

Amyloidosis Support Groups, Inc

Aplastic Anemia

Aplastic Anemia & MDS International Foundation, Inc.

Julia’s Wings Foundation, Inc

Ataxia-Telangiectasia

A-T Children’s Project

National Ataxia Foundation

Autoimmune Diseases

American Autoimmune Related Diseases Association, Inc.

Autoinflammatory Diseases

NOMID Alliance

B 

Basal Cell Carcinoma Nevus Syndrome

Basal Cell Carcinoma Nevus Syndrome Life Support Network

Batten Disease

Batten Disease Support and Research Association 

Behcet’s Disease

American Behcet’s Disease Association 

Benign Essential Blepharospasm

Benign Essential Blepharospasm Research Foundation, Inc. 

Bile Acid Deficiency

Council for Bile Acid Deficiency Diseases 

Blindness (rare forms)

Foundation Fighting Blindness 

Brain Tumor

American Brain Tumor Association

National Brain Tumor Society

C

CC4C Champions for Children

cc4c.org

Cadasil

CADASIL Association, Inc. 

Cancer (pediatric)

Caleb’s Crusade

Children’s Tumor Foundation

Smashing Walnuts Foundation

Cancer (rare forms)

Rare Cancer Research Foundation

Carcinoid Cancer

Caring for Carcinoid Foundation 

Cardiofaciocutaneous Syndrome

Cardio-Facio-Cutaneous International

Cardiomyopathy (pediatric)

Children’s Cardiomyopathy Foundation

CDKL5

International Foundation for CDKL5 Research

Charlot-Marie-Tooth Disease

Charcot-Marie-Tooth Association 

Cholangiocarcinoma

Cholangiocarcinoma Foundation

Chronic Fatigue Syndrome

Wisconsin ME/CFS Association

Clostridium Septicum

Gut Check Foundation

Craniofacial Disorders

American Cleft Palate-Craniofacial Association

Children’s Craniofacial Association

Cleft Palate Foundation

Chromosome Disorders

Chromosome 18 Registry & Research Society

Chromosome Disorder Outreach, Inc.

Chronic Granulomatous Disease

Chronic Granulomatous Disease Association 

Cicatricial Alopecia

Cicatricial Alopecia Research Foundation

CLOVES Syndrome

CLOVES Syndrome Community 

Coats Disease

Jack McGovern Coats Disease Foundation 

Congenital Central Hypoventilation Syndrome

CCHS Family Network

Congenital Diaphragmatic Hernia

Breath of Hope, Inc.

Congenital Hyperinsulinism

Congenital Hyperinsulinism International

Cornelia de Lange Syndrome

Cornelia de Lange Syndrome Foundation, Inc. 

Corticobasal Degeneration

CurePSP Foundation for PSP/CBD & Related Brain Diseases

Creatine Deficiencies

Association for Creatine Deficiencies 

Cushing’s Disease

Cushing Support & Research Foundation 

Cutaneous Lymphoma

Cutaneous Lymphoma Foundation

Cutis Laxa

Cutis Laxa Internationale 

Cutis Marmorata Telangiectatica Congenita

Cutis Marmorata Telangiectatica Congenita

CMTC-OVM Association, US

Cystic Fibrosis

Cystic Fibrosis Foundation

Cystinosis

Cystinosis Foundation

Cystinosis Research Network

 D

Dercum’s Disease

Fat Disorders Research Society, Inc

Desmoid Tumors

Desmoid Tumor Research Foundation 

Dravet Syndrome

Dravet Syndrome Foundation 

Duchenne Muscular Dystrophy

Cure Duchenne

Parent Project Muscular Dystrophy 

Dysautonomia

Dysautonomia Foundation, Inc.

Dystonia

Dystonia Medical Research Foundation

Dup15q

Dup15q Alliance

E

Ectodermal Dysplasia

National Foundation for Ectodermal Dysplasias 

Eosinophilia-Myalgia Syndrome

National Eosinophilia-Myalgia Syndrome Network 

Ehlers-Danlos Syndrome

Ehlers-Danlos National Foundation 

Ehlers-Danlos Syndrome Network C.A.R.E.S Inc.

Enterocolitis

International Association for Food Protein Enterocolitis 

Eosinophilic Disorders

American Partnership for Eosinophilic Disorders 

Epidermolysis Bullosa

Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA)

Erdheim-Chester Disease

ECD Global Alliance

Erthromelalgia

Erythromelalgia Association

 F

Fibrodysplasia Ossificans Progressiva

International Fibrodysplasia Ossificans Progressiva Association

Fibromuscular Dysplasia

Fibromuscular Dysplasia Society of America

FMD Chat

Fibrous Dysplasia

Fibrous Dysplasia Foundation, Inc. 

Fragile X Syndrome

National Fragile X Foundation 

Friedreich’s Ataxia

Friedreich’s Ataxia Research Alliance 

Freeman-Sheldon Syndrome

Freeman-Sheldon Research Group, Inc. 

Frontotemporal Degeneration

Association for Frontotemporal Degeneration 

G

Gastointestinal Motility Disorders (rare)

Association of Gastrointestinal Motility Disorders, Inc.

Gastrointestinal Stromal Tumors

Life Raft Group 

Glycogen Storage Disease

Association for Glycogen Storage Disease 

International Advocate for Glycoprotein Storage Diseases

Guillain-Barré syndrome

GBS/CIDP Foundation International

 H

Hemophilia

Hemophilia Federation of America

National Hemophilia Foundation

Hereditary Angioedema

US Hereditary Angioedema Association

Hereditary Hemorrhagic Telangiectasia

Cure HHT Foundation

Hereditary Hemorrhagic Telangiectasia Foundation International, Inc 

Hereditary Leiomyomatosis and Renal Cell Cancer

Hereditary Leiomyomatosis and Renal Cell Cancer Family Alliance 

Hereditary Neuropathy

Hereditary Neuropathy Foundation 

Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome Network Inc.

Histiocytosis

Histiocytosis Association of America 

Huntington’s Disease

Huntington’s Disease Society of America 

Huntington’s Disease Youth Organization

Hydrocephalus

Hydrocephalus Association 

Pediatric Hydrocephalus Foundation

Hypoparathyroidism

Hypoparathyroidism Association, Inc. 

Hypophosphatasia

Soft Bones Foundation 

XLH Network, Inc.

Hypothalamic Hamartoma

Hope for Hypothalamic Hamartomas

I

Ichthyosis

Foundation for Ichthyosis & Related Skin Types 

Incontinentia Pigmenti

Incontinentia Pigmenti International Foundation 

Intractable Childhood Epilepsy

Intractable Childhood Epilepsy Alliance 

Iron Disorders (rare)

Iron Disorders Institute

J

Juvenile Myelomonocytic Leukemia

JMML Foundation

Juvenile Myositis

Cure JM Foundation

K

Kennedy’s Disease

Kennedy’s Disease Association 

Kidney Disease (rare forms)

NephCure Foundation

Klippel-Trenaunay Syndrome

Klippel-Trenaunay Support Group

L

Leukodystrophy

United Leukodystrophy Foundation 

Lipedema

Fat Disorders Research Society, Inc

Lipomatosis (familial multiple)

Fat Disorders Research Society, Inc

Lowe Syndrome

Lowe Syndrome Association 

Lymphangiomatosis 

LAM Foundation

Lymphangiomatosis & Gorham’s Disease Alliance, Inc. 

Lymphatic Malformations

Liam’s Land 

Lymphedema

National Lymphedema Network 

Lysosomal Acid Lipase Deficiency

LAL Solace, Inc

M

Macrocephaly-Capillary Malformation

M-CM Network

 Madelung’s Disease

Fat Disorders Research Society, Inc

Marfan Syndrome

National Marfan Foundation 

Maple Syrup Urine Disease

MSUD Family Support

Mastocytosis

Mastocytosis Society 

Melorheostosis

Melorheostosis Association 

Mesothelioma

Mesothelioma Applied Research Foundation 

Metabolic Diseases

CLIMB: Children Living with Inherited Metabolic Diseases

Metachromatic Leukodystrophy

MLD Foundation 

Mitochondrial Disease

MitoAction

United Mitochondrial Disease Foundation 

Moebius Syndrome

Moebius Syndrome Foundation

Mucolipidosis Type IV

Mucolipidosis IV Foundation

MPS (Mucopolysaccharidoses)

National MPS Society 

Multiple Endocrine Neoplasia

American Multiple Endocrine Neoplasia Support Hageman Foundation 

Multiple Sclerosis

Consortium of Multiple Sclerosis Centers 

Myalgic Encephalomyelitis

Wisconsin Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Association, Inc 

Myasthenia Gravis

Myasthenia Gravis Foundation of America 

Myelofibrosis

MPN Research Foundation 

Multiple Myeloma

International Myeloma Foundation 

Myocarditis

Myocarditis Foundation 

Myositis

Myositis Association 

Myotonic Dystrophy

Myotonic Dystrophy Foundation

Myotubular Myopathy

Joshua Frase Foundation

N

Narcolepsy

Narcolepsy Network, Inc.

Necrotizing Enterocolitis

Morgan Leary Vaughan Fund

Neimann-Pick Disease

National Niemann-Pick Disease Foundation, Inc.

Neurodegeneration with Brain Iron Accumulation

NBIA Disorders Association

Neurofibromatosis

Neurofibromatosis, Inc.

Neuromyelitis Optica

Guthy-Jackson Charitable Foundation

NGLY1 Deficient

Grace Wilsey Foundation

O

Ocular Melanoma

A Cure in Sight

Ocular Melanoma Foundation

Organic Acidemia Metabolic Disorder

Organic Acidemia Association

Osteogenesis Imperfecta

Osteogenesis Imperfecta Foundation

Oxalosis

Oxalosis and Hyperoxaluria Foundation

P

Paget’s Disease

Paget Foundation for Paget’s Disease of Bone and Related Disorders

Pancreatic Cancer

Pancreatic Cancer Action Network

Parkinson Disease (rare forms)

Parkinson Disease Foundation

Pemphigus/Pemphigoid

International Pemphigus Pemphigoid Foundation

Peroxisomal Disorders

Global Foundation for Peroxisomal Disorders

Phelan-McDermid Syndrome

Phelan-McDermid Syndrome Foundation

Phenylketonuria

Children’s PKU Network

National PKU Alliance

National PKU News

Polycystic Kidney Disease

PKD Foundation

Platelet Disorders

Platelet Disorder Support Association

Porphyria

American Porphyria Foundation

Prader-Willi Syndrome

Prader-Willi Syndrome Association (USA)

Primary Ciliary Dyskinesia

PCD/Ks Foundation

Primary Immunodeficiency Diseases

Immune Deficiency Foundation

Primary Sclerosing Cholangitis

PSC Partners Seeking a Cure

Progressive Supranuclear Palsy/Corticobasal Degeneration

CurePSP Foundation for PSP/CBD & Related Brain Diseases

Pseudomyxoma Peritonei

PMP Research Foundation

Pulmonary Fibrosis

Pulmonary Fibrosis Foundation

Coalition for Pulmonary Fibrosis

Pulmonary Hypertension

Pulmonary Hypertension Association

Pulmonary Nontuberculous Myobacterial Disease

NTM Information & Research

R

RASopathies

RASopathies Network

Rare Disease Advocacy Organizations

Ben’s Friends

EMD Serono

Global Genes

Recurrent Respiratory Papillomatosis

Recurrent Respiratory Papillomatosis Foundation

Reflex Sympathetic Dystrophy Syndrome

Reflex Sympathetic Dystrophy Association of America

Rett Syndrome

International Rett Syndrome Foundation

Rett Syndrome Research Trust

Rhambomyosarcoma

Jarod’s Juggernaut

Rothmund-Thomson Syndrome

Rothmund-Thomson Syndrome Foundation  

S

Sanfilippo Syndrome

Jonah’s Just Begun

Red Sanfilippo AC

Sarcoidosis

Sarcoid Networking Association

Sarcoma

Sarcoma Foundation of America

Scleroderma

Scleroderma Foundation

Scleroderma Research Foundation

Short Bowel Syndrome

Oley Foundation

SBS Cure Project

Short Bowel Syndrome Foundation, Inc.

Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome Foundation

SLC13AS Deficiency

Tess Foundation

Smith-Magenis Syndrome

Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS)

Snyder-Robinson Syndrome

Snyder-Robinson Foundation

Sotos Syndrome

Sotos Syndrome Support Association

Spasmodic Dysphonia

National Spasmodic Dysphonia Association

Spasmodic Torticollis

National Spasmodic Torticollis Association

Spastic Paraplegia

Spastic Paraplegia Foundation

Spinal Muscular Atrophy

Children with Spinal Muscular Atrophy Ukraine

Cure SMA

Families of Spinal Muscular Atrophy

Succinic Semialdehyde Dehydrogenase Deficiency

SSADH Association

Sudden Unexplained Death in Childhood

SUDC Foundation

Stevens Johnson Syndrome

Stevens Johnson Syndrome Foundation and Support Group

Sturge-Weber Syndrome

Sturge-Weber Foundation

Syncope (rare forms)

Syncope Trust and Reflex Anoxic Seizures (STARS)

Syringomyelia

American Syringomyelia & Chiari Alliance Project

Worldwide Syringomyelia & Chiari Task Force

 T

Tarlov Cyst Disease

Tarlov Cyst Disease Foundation

Tay-Sachs Disease

National Tay-Sachs and Allied Diseases Association

Tourette Syndrome (pediatric)

Tourette Syndrome Association, Inc.

Trimethylaminuria

MEBO Research, Inc.

Trigeminal Autonomic Cephalgia and Migraine

Cluster Headache Support Group Inc

Trigeminal Neuralgia

TNA – The Facial Pain Association

Tuberous Sclerosis

Tuberous Sclerosis Alliance

Turner Syndrome

Turner Syndrome Society of the United States

U

Urea Cycle Disorders

National Urea Cycle Disorders Foundation

V

Vasculitis

Vasculitis Foundation

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