Congenital and Genetic Conditions

Jan 17, 2022| Posted in: Congenital And Genetic Conditions, Drug Development, Lung Diseases, News

MT1621: A Possible Treatment for Thymidine Kinase 2 Deficiency

Dr. Bradley Galer, MD, Chief Medical Officer  at…
Jan 14, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Drug Development, Metabolic Disorders, Treatment

Current and Emerging Therapies for PKU (Including SYNB1618)

Dr. Jerry Vockley of UPMC Children’s Hospital of…
Jan 12, 2022| Posted in: Congenital And Genetic Conditions, Drug Development, Neurology/Nervous System Diseases, News

Positive Safety and Efficacy Results in Rett Syndrome Study

Dr. Jeffrey Neul of Vanderbilt University Medical Center…
Jan 11, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Gastrointestinal Diseases, Neurology/Nervous System Diseases, Treatment

Diagnosis and Treatment of Wilson Disease

Dr. Sihoun Hahn, of the Seattle Children’s Research…
Jan 10, 2022| Posted in: Congenital And Genetic Conditions, Drug Development, Hematologic Disorders, News

Gene Editing Therapy Shows Promise for Sickle Cell Anemia 

Philippe Duchateau, PhD of Cellectis discusses the company’s…
Jan 4, 2022| Posted in: Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

2022 Orphan Drugs: PDUFA Dates and FDA Approvals

Almost half of all novel medications approved by…
Jan 3, 2022| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Congenital And Genetic Conditions, Diagnosis

Company Offers At-Home Genetic Testing for Rare Disease Patients

Lukas Lange, PhD, CEO of Probably Genetic, discusses…
Dec 28, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Drug Development, Metabolic Disorders, Neurology/Nervous System Diseases

What Is Arginase 1 Deficiency?

Dr Anthony Quinn, CEO of Aeglea BioTherapeutics, gives…
Dec 27, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Diagnosis, Gastrointestinal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

KAT6A Syndrome Parents Talk About Their Son’s Diagnostic Journey

Kevin and Amy Young talk about their son’s…
Dec 23, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Gastrointestinal Diseases, Kidney And Urinary Diseases

How Is Alagille Syndrome Diagnosed?

Chris Peetz discusses how patients with Alagille syndrome…

WHIM Syndrome Learning Center

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Learning Center

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.

Current and Emerging Therapies for Lysosomal Storage Disease

Drs. Goker-Alpan and Zimran provide an overview of current and emerging therapies for lysosomal storage diseases in this CME program.

Clinical Diversity and Genetic Variation in Lysosomal Disorders

In this CME activity, Drs. Ozlem Goker-Alpan, Gregory Grabowski, and Soumeya Bekri discuss clinical diversity and genetic variation in lysosomal disorders.

Novel Technologies and Emerging Therapies for Precision Medicine

In this CME program, Drs. Shoshana Revel-Vilk and Neil Joseph Weinreb discuss novel technologies and mmerging therapies for precision medicine.

Preclinical Studies and Clinical Trials Towards Individualized Therapies

In this CME program, Drs. Ari Zimran, Gustavo Maegawa, and Nina Raben, MD discuss preclinical studies and clinical trials regarding individualized therapies.

Gaucher Disease Research Highlights

Derralynn Hughes, MD discusses Gaucher disease data presented at American Society of Hematology Annual Meeting (ASH 2020).

Acromegaly Highlights from ENDO 2021

Maria Fleseriu, MD, FACE highlights the latest research about Acromegaly that was presented at ENDO 2021.

Congenital and Genetic Conditions

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